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Entry
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- #174800 - MCCUNE-ALBRIGHT SYNDROME; MAS
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- OMIM
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<p>
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<span class="h4">#174800</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/174800"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=MCCUNE-ALBRIGHT SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=279&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK274564/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4524" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=174800[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=562" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/e15cae95-056c-44a3-8005-c6aee07c0e5c/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:1858" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/174800" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 36517007, 726029005<br />
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<strong>ICD10CM:</strong> Q78.1<br />
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<strong>ICD9CM:</strong> 756.54<br />
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<strong>ORPHA:</strong> 562<br />
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<strong>DO:</strong> 1858<br />
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">ICD+</a>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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174800
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MCCUNE-ALBRIGHT SYNDROME; MAS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ALBRIGHT SYNDROME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
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POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/20/426?start=-3&limit=10&highlight=426">
|
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20q13.32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
McCune-Albright syndrome, somatic mosaic
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/174800"> 174800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GNAS
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139320"> 139320 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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<div>
|
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|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/174800" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
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|
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|
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|
|
|
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|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/174800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/174800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Somatic mosaicism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848753&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848753</a>, <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cranial foramen impingement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868084</a>]</span><br /> -
|
|
Craniofacial hyperostosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004493" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004493</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004493" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004493</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial asymmetry <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13851000119109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13851000119109</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15253005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15253005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1306710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306710</a>, <a href="https://bioportal.bioontology.org/search?q=C0546952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gastrointestinal polyps <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0744333&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0744333</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200008</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Polyostotic fibrous dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36517007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36517007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q78.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q78.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.54</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016065</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010735" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010735</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010735" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010735</a>]</span><br /> -
|
|
Pathologic fracture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22640007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22640007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268029009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268029009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M84.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M84.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V13.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V13.51</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016663&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016663</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large cafe au lait spots with irregular margins <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277408</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Hyperthyroidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34486009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34486009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E05.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E05.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000836" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000836</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000836" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000836</a>]</span><br /> -
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Hyperparathyroidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66999008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66999008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E21.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E21.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/252.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">252.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/252.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">252.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020502&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020502</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000843</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000843</a>]</span><br /> -
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Cushing syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237735008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237735008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47270006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47270006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E24</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/255.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">255.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342443</a>, <a href="https://bioportal.bioontology.org/search?q=C0010481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003118" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003118</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003118" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003118</a>]</span><br /> -
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Precocious puberty <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400179000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400179000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E30.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E30.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034013</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000826</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000826</a>]</span><br /> -
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Acromegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74107003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74107003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001206</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033794</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033794</a>]</span><br /> -
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Hyperprolactinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237662005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237662005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E22.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E22.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020514</a>, <a href="https://bioportal.bioontology.org/search?q=C5200994&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5200994</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000870" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000870</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000870" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000870</a>]</span><br />
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<strong> NEOPLASIA </strong>
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- Pituitary adenoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254956000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254956000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032000&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032000</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002893" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002893</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002893" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002893</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by somatic mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1 gene (GNAS1, <a href="/entry/139320#0008">139320.0008</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because McCune-Albright syndrome (MAS) is associated with early embryonic postzygotic somatic activating mutations in the GNAS1 gene (<a href="/entry/139320">139320</a>) on chromosome 20q13.</p>
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<strong>Description</strong>
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<p>Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome (MAS) are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (<a href="/entry/219080">219080</a>) (<a href="#42" class="mim-tip-reference" title="Lumbroso, S., Paris, F., Sultan, C. <strong>Activating Gs-alpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European collaborative study.</strong> J. Clin. Endocr. Metab. 89: 2107-2113, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15126527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15126527</a>] [<a href="https://doi.org/10.1210/jc.2003-031225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15126527">Lumbroso et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15126527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p>McCune-Albright syndrome (MAS), also referred to simply as Albright syndrome, should not be confused with pseudohypoparathyroidism (PHP1A; <a href="/entry/103580">103580</a>), which includes a constellation of features termed Albright hereditary osteodystrophy (AHO). The predominant features of MAS occur in 3 areas: the bony skeleton, the skin, and the endocrine system. In all 3 systems, the extent of the abnormality and, in the case of the endocrine system, the nature of the abnormality, are highly variable from case to case, depending on the specific tissues involved in the mosaicism and the extent of involvement.</p><p><strong><em>Skeletal</em></strong></p><p>
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No bone is spared. There is a strong tendency to asymmetry. Involvement of the skull and facial bones can be striking, and in the case of these bones also, asymmetry is the rule. Pathologic fracture or bone deformity may be presenting manifestations and pseudarthrosis occurs frequently. Deafness and blindness can result from impingement of the bony process on the cranial foramina. Shepherd's crook deformity of the proximal femur is particularly characteristic of the bony involvement. (The bone lesions of neurofibromatosis are usually less extensive than are those in polyostotic fibrous dysplasia, but may be difficult to distinguish on radiologic grounds alone.)</p><p>Hypophosphatemic osteomalacia ('rickets') has been observed in some cases of polyostotic fibrous dysplasia. <a href="#20" class="mim-tip-reference" title="Dent, C. E., Gertner, J. M. <strong>Hypophosphataemic osteomalacia in fibrous dysplasia.</strong> Quart. J. Med. 45: 411-420, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/948543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">948543</a>]" pmid="948543">Dent and Gertner (1976)</a> suggested that this may represent a situation comparable to 'tumor rickets' which is associated with mesenchymal tumors and regresses when the tumor is removed. <a href="#46" class="mim-tip-reference" title="McArthur, R. G., Hayles, A. B., Lambert, P. W. <strong>Albright's syndrome with rickets.</strong> Mayo Clin. Proc. 54: 313-320, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/431133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">431133</a>]" pmid="431133">McArthur et al. (1979)</a> described 4 patients with Albright syndrome, hypophosphatemia, and inappropriately low renal tubular reabsorption of phosphate. Three of the patients had radiologic evidence of rickets. They postulated that a substance elaborated by the dysplastic bone interfered with phosphate reabsorption in the renal tubule. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=431133+948543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Kaplan, F. S., Fallon, M. D., Boden, S. D., Schmidt, R., Senior, M., Haddad, J. G. <strong>Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome).</strong> New Eng. J. Med. 319: 421-425, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3398893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3398893</a>] [<a href="https://doi.org/10.1056/NEJM198808183190707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3398893">Kaplan et al. (1988)</a> reported the case of a 31-year-old woman with this disorder in whom bone lesions progressed rapidly during pregnancy. A study of these lesions showed the presence of estrogen and progesterone receptors in osteogenic cells. Whether estrogen receptors are unique to the McCune-Albright syndrome or, alternatively, a property of any activated, dedifferentiated, or neoplastic bone cells is unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3398893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#64" class="mim-tip-reference" title="Viljoen, D. L., Versfeld, G. A., Losken, W., Beighton, P. <strong>Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?</strong> Am. J. Med. Genet. 29: 661-667, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3377009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3377009</a>] [<a href="https://doi.org/10.1002/ajmg.1320290325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3377009">Viljoen et al. (1988)</a> described a severely affected man, aged about 30, with massive craniofacial hyperostosis. They raised the question of whether this represents the severe end of the scale for polyostotic fibrous dysplasia, or whether it is a distinct entity. It seems likely that this was a severe expression of polyostotic fibrous dysplasia (McCune-Albright syndrome). <a href="#48" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1988."None>McKusick (1988)</a> studied a patient with severe craniofacial hyperostosis who had other, more characteristic features of polyostotic fibrous dysplasia, including cafe-au-lait pigmentation, which was absent in the case of <a href="#64" class="mim-tip-reference" title="Viljoen, D. L., Versfeld, G. A., Losken, W., Beighton, P. <strong>Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?</strong> Am. J. Med. Genet. 29: 661-667, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3377009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3377009</a>] [<a href="https://doi.org/10.1002/ajmg.1320290325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3377009">Viljoen et al. (1988)</a>; this patient was later found by <a href="#60" class="mim-tip-reference" title="Schwindinger, W. F., Francomano, C. A., Levine, M. A. <strong>Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome.</strong> Proc. Nat. Acad. Sci. 89: 5152-5156, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1594625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1594625</a>] [<a href="https://doi.org/10.1073/pnas.89.11.5152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1594625">Schwindinger et al. (1992)</a> to have a mutation in the GNAS1 gene (<a href="/entry/139320#0009">139320.0009</a>). There are other definite cases of patients with severe craniofacial involvement (<a href="#51" class="mim-tip-reference" title="Nager, G. T., Kennedy, D. W., Kopstein, E. <strong>Fibrous dysplasia: a review of the disease and its manifestations in the temporal bone.</strong> Ann. Otol. Rhinol. Laryng. Suppl. 91: 1-52, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6807182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6807182</a>]" pmid="6807182">Nager et al., 1982</a>; <a href="#50" class="mim-tip-reference" title="Nager, G. T., Holliday, M. J. <strong>Fibrous dysplasia of the temporal bone: update with case reports.</strong> Ann. Otol. Rhinol. Laryng. 93: 630-633, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6508135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6508135</a>] [<a href="https://doi.org/10.1177/000348948409300617" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6508135">Nager and Holliday, 1984</a>). Such is also evident from inspection of the descriptions in the classic monograph of <a href="#4" class="mim-tip-reference" title="Albright, F., Reifenstein, E. C., Jr. <strong>The Parathyroid Glands and Metabolic Bone Disease: Selected Studies.</strong> Baltimore: Williams and Wilkins (pub.) 1948."None>Albright and Reifenstein (1948)</a>. For example, they produced a picture (their Figure 145) of a skeleton thought by <a href="#65" class="mim-tip-reference" title="von Recklinghausen, F. D. <strong>Die Fibrose oder deformirende Ostitis, die Osteomalacie und die Osteoplastische Carcinose in ihren gegenseitigen Beziehungen. Festschrift f. Rudolf Virchow.</strong> Berlin: Reimer 1891."None>von Recklinghausen (1891)</a> to represent hyperparathyroidism (osteitis fibrosa generalisata of von Recklinghausen). That this was severe Albright polyostotic fibrous dysplasia was suggested by the shepherd's crook deformity of the femora and the asymmetric bulge of the occipital area of the skull. <a href="#62" class="mim-tip-reference" title="Taconis, W. K. <strong>Osteosarcoma in fibrous dysplasia.</strong> Skeletal Radiol. 17: 163-170, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3163851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3163851</a>] [<a href="https://doi.org/10.1007/BF00351001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3163851">Taconis (1988)</a> reported 2 cases of osteosarcomatous transformation, 1 in the skull of a 25-year-old man and 1 in the iliac bone of a 38-year-old man. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6508135+6807182+3377009+3163851+1594625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#62" class="mim-tip-reference" title="Taconis, W. K. <strong>Osteosarcoma in fibrous dysplasia.</strong> Skeletal Radiol. 17: 163-170, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3163851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3163851</a>] [<a href="https://doi.org/10.1007/BF00351001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3163851">Taconis (1988)</a> stated that the incidence of malignancy of the bone lesions may be lower than previously suggested. Malignant transformation occurs in both monostotic and polyostotic disease but is more common in the latter form. Although radiation therapy is often an inciting cause, this was not the case in either of these patients, who had received no radiation therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3163851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Candeliere, G. A., Glorieux, F. H., Prud'Homme, J., St.-Arnaud, R. <strong>Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia.</strong> New Eng. J. Med. 332: 1546-1551, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7739708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7739708</a>] [<a href="https://doi.org/10.1056/NEJM199506083322304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7739708">Candeliere et al. (1995)</a> reported a 7-year-old boy with McCune-Albright syndrome in whom they identified high levels of expression of the FOS (<a href="/entry/164810">164810</a>) oncogene in bone lesions. Increased expression of the FOS oncogene was presumably a consequence of increased adenylate cyclase activity and may have been important in the pathogenesis of the bone lesions. Genetic analysis identified the R201H mutation in the GNAS1 gene (<a href="/entry/139320#0013">139320.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7739708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Skin</em></strong></p><p>
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The involvement of the skin consists predominantly of large cafe-au-lait spots with irregular margins, giving them a 'coast of Maine' configuration as opposed to the more regularly outlined 'coast of California' cafe-au-lait spots of neurofibromatosis (<a href="/entry/162200">162200</a>). Like the bony lesions, the pigmentary lesions of the skin may be limited predominantly to one side and stop sharply at the midline. The nape of the neck is a commonly involved site. (The cafe-au-lait spots of neurofibromatosis are for the most part smaller, more regular, and more uniformly distributed, and are accompanied by axillary freckling and usually by skin tumors.)</p><p><strong><em>Endocrine</em></strong></p><p>
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The leading endocrinologic feature is precocious puberty, which occurs in over half of female cases. Menstruation may occur in the first months of life. Precocious puberty has been reported also in males with this syndrome; testicular biopsy has revealed the full process of spermatogenesis with mature sperm in patients as young as 6 years (<a href="#8" class="mim-tip-reference" title="Benedict, P. H. <strong>Sex precocity and polyostotic fibrous dysplasia: report of a case in a boy with testicular biopsy.</strong> Am. J. Dis. Child. 111: 426-429, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5906056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5906056</a>] [<a href="https://doi.org/10.1001/archpedi.1966.02090070124020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5906056">Benedict, 1966</a>; <a href="#29" class="mim-tip-reference" title="Giovannelli, G., Bernasconi, S., Banchini, G. <strong>McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma.</strong> J. Pediat. 92: 220-226, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/340627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">340627</a>] [<a href="https://doi.org/10.1016/s0022-3476(78)80008-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="340627">Giovannelli et al., 1978</a>). Probably the second most common endocrinopathy is hyperthyroidism (<a href="#40" class="mim-tip-reference" title="Lichtenstein, L., Jaffe, H. L. <strong>Fibrous dysplasia of the bone: a condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities.</strong> Arch. Path. 33: 777-816, 1942."None>Lichtenstein and Jaffe, 1942</a>; <a href="#31" class="mim-tip-reference" title="Hamilton, C. R., Jr., Maloof, F. <strong>Unusual types of hyperthyroidism.</strong> Medicine 52: 195-213, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20407411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20407411</a>] [<a href="https://doi.org/10.1097/00005792-197305000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20407411">Hamilton and Maloof, 1973</a>). Excessive secretion of growth hormone (GH1; <a href="/entry/139250">139250</a>) with gigantism, hyperadrenocorticism with Cushing syndrome, and gynecomastia have been observed. In specific instances, it has been demonstrated that the Cushing syndrome is due to multinodular change in the adrenals and the hyperthyroidism to multinodular toxic goiter (<a href="#31" class="mim-tip-reference" title="Hamilton, C. R., Jr., Maloof, F. <strong>Unusual types of hyperthyroidism.</strong> Medicine 52: 195-213, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20407411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20407411</a>] [<a href="https://doi.org/10.1097/00005792-197305000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20407411">Hamilton and Maloof, 1973</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20407411+5906056+340627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Falconer, M. A., Cope, C. L., Robb-Smith, A. H. T. <strong>Fibrous dysplasia of bone with endocrine disorders and cutaneous pigmentation (Albright's disease).</strong> Quart. J. Med. 11: 121-154, 1942."None>Falconer et al. (1942)</a> reported pituitary gigantism in association with McCune-Albright syndrome. <a href="#68" class="mim-tip-reference" title="Wrong, O. <strong>Tegernsee giant. (Letter)</strong> Lancet 339: 194 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346061</a>] [<a href="https://doi.org/10.1016/0140-6736(92)90275-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1346061">Wrong (1992)</a> stated that he saw this patient, a boy born in Nottingham in 1930, in 1954; the patient was still alive, though severely disabled by bone disease, in the late 1960s at the age of almost 40. <a href="#57" class="mim-tip-reference" title="Premawardhana, L. D. K. E., Vora, J. P., Mills, R., Scanlon, M. F. <strong>Acromegaly and its treatment in the McCune-Albright syndrome.</strong> Clin. Endocr. 36: 605-608, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1424186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1424186</a>] [<a href="https://doi.org/10.1111/j.1365-2265.1992.tb02272.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1424186">Premawardhana et al. (1992)</a> described a 26-year-old woman with acromegaly due to a pituitary adenoma who developed secondary hypothyroidism and hypoadrenalism, in a setting of McCune-Albright syndrome. <a href="#18" class="mim-tip-reference" title="Cremonini, N., Graziano, E., Chiarini, V., Sforza, A., Zampa, G. A. <strong>Atypical McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma: natural history, long-term follow-up, and SMS 201-995--bromocriptine combined treatment results.</strong> J. Clin. Endocr. Metab. 75: 1166-1169, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1400888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1400888</a>] [<a href="https://doi.org/10.1210/jcem.75.4.1400888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1400888">Cremonini et al. (1992)</a> described acromegaly and hyperprolactinemia due to pituitary adenoma in a 35-year-old woman with McCune-Albright syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1400888+1346061+1424186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Malchoff, C. D., Reardon, G., MacGillivray, D. C., Yamase, H., Rogol, A. D., Malchoff, D. M. <strong>An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion.</strong> J. Clin. Endocr. Metab. 78: 803-806, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8126161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8126161</a>] [<a href="https://doi.org/10.1210/jcem.78.3.8126161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8126161">Malchoff et al. (1994)</a> reported a 27-year-old woman with McCune-Albright syndrome who had an unusual clinical course. She presented at the age of 3 years with vaginal bleeding, had breast development at age 4 years, and had a second episode of vaginal bleeding at age 5 years 7 months. She had no pigmentary skin lesions, and 2 sets of radiographs of the chest, pelvis, skull, and long bones were normal. She was treated for 24 months with medroxyprogesterone acetate, and precocity resolved. She progressed normally through puberty, starting at age 10 years, and had normal menses, starting at age 12 years. At age 25 years, she delivered a normal daughter. A chest x-ray at age 27 years after minor trauma identified a single lesion of fibrous dysplasia in the left seventh rib. Radiographs of other bones were normal. Studies of the GNAS1 gene showed an R201H mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8126161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#63" class="mim-tip-reference" title="Tinschert, S., Gerl, H., Gewies, A., Jung, H.-P., Nurnberg, P. <strong>McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.</strong> Am. J. Med. Genet. 83: 100-108, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10190480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10190480</a>]" pmid="10190480">Tinschert et al. (1999)</a> reported a 37-year-old man with McCune-Albright syndrome causing gigantism and fibrous dysplasia with hypersecretion of growth hormone and prolactin (<a href="/entry/176760">176760</a>), with no evidence of pituitary tumor. The patient had an R201H mutation which ranged from 0% in buccal mucosa, blood, and skin melanocytes to 45% in a frozen section of the middle nasal concha. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10190480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Coutant, R., Lumbroso, S., Rey, R., Lahlou, N., Venara, M., Rouleau, S., Sultan, C., Limal, J.-M. <strong>Macroorchidism due to autonomous hyperfunction of Sertoli cells and GS-alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy.</strong> J. Clin. Endocr. Metab. 86: 1778-1781, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11297617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11297617</a>] [<a href="https://doi.org/10.1210/jcem.86.4.7391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11297617">Coutant et al. (2001)</a> reported a 3.8-year-old boy with McCune-Albright syndrome associated with abnormal prepubertal testis enlargement and no sexual precocity. Other endocrine tests showed excessive GH secretion and moderate adrenal androgen hypersecretion. These findings were consistent with the occurrence of an activating mutation of the GNAS1 gene mainly expressed in Sertoli cells and weakly expressed or absent in Leydig cells. Abnormal prepubertal testicular enlargement extends the clinical spectrum of MAS, suggesting that determination of serum inhibin B (see <a href="/entry/147290">147290</a>) and anti-mullerian hormone (<a href="/entry/600957">600957</a>) should be considered in boys with this syndrome. DNA sequence analysis from bone and testis tissues detected the R201H mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11297617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Akintoye, S. O., Chebli, C., Booher, S., Feuillan, P., Kushner, H., Leroith, D., Cherman, N., Bianco, P., Wientroub, S., Robey, P. G., Collins, M. T. <strong>Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome.</strong> J. Clin. Endocr. Metab. 87: 5104-5112, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414879</a>] [<a href="https://doi.org/10.1210/jc.2001-012022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414879">Akintoye et al. (2002)</a> estimated the prevalence of GH excess in MAS, characterized the clinical and endocrine manifestations, and described the response to treatment. Twelve patients (21%) had GH excess, based on failure to suppress serum GH on oral glucose tolerance test. Vision and hearing deficits were more common in patients with GH excess (33%) than in those without (4%). Patients with a history of precocious puberty and GH excess who had reached skeletal maturity achieved normal adult height despite a history of early epiphyseal fusion. All 9 patients tested had an increase in serum GH after TRH (<a href="/entry/613879">613879</a>), 11 of 12 (92%) had hyperprolactinemia, and all 8 tested had detectable or elevated nighttime GH levels. Pituitary adenoma was detected in 4 of 12 (33%) patients. GH excess is common in MAS and results in a distinct clinical phenotype characterized by inappropriately normal stature, TRH responsiveness, prolactin (<a href="/entry/176760">176760</a>) cosecretion, small or absent pituitary tumors, a consistent but inadequate response to treatment with cabergoline, and an intermediate response to long-acting octreotide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Laven, J. S. E., Lumbroso, S., Sultan, C., Fauser, B. C. J. M. <strong>Dynamics of ovarian function in an adult woman with McCune-Albright syndrome.</strong> J. Clin. Endocr. Metab. 86: 2625-2630, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11397863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11397863</a>] [<a href="https://doi.org/10.1210/jcem.86.6.7595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11397863">Laven et al. (2001)</a> presented the first longitudinal assessment of ovarian dysfunction in an adult patient with McCune-Albright syndrome. Their report provided evidence for persistent autonomous unilateral ovarian dysfunction during early adulthood in McCune-Albright syndrome not compatible with normal fertility. <a href="#38" class="mim-tip-reference" title="Laven, J. S. E., Lumbroso, S., Sultan, C., Fauser, B. C. J. M. <strong>Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome.</strong> J. Clin. Endocr. Metab. 89: 1076-1078, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15001590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15001590</a>] [<a href="https://doi.org/10.1210/jc.2003-031245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15001590">Laven et al. (2004)</a> presented a case of an adult MAS patient with persistent unilateral autonomous ovarian activity whose ovarian and endometrial function was restored by removal of the affected ovary. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15001590+11397863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#54" class="mim-tip-reference" title="Obuobie, K., Mullik, V., Jones, C., John, R., Rees, A. E., Davies, J. S., Scanlon, M. F., Lazarus, J. H. <strong>McCune-Albright syndrome: growth hormone dynamics in pregnancy.</strong> J. Clin. Endocr. Metab. 86: 2456-2458, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11397839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11397839</a>] [<a href="https://doi.org/10.1210/jcem.86.6.7609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11397839">Obuobie et al. (2001)</a> studied the GH and insulin-like growth hormone I (IGF1; <a href="/entry/147440">147440</a>) profiles in a patient with confirmed McCune-Albright syndrome and GH hypersecretion throughout a successful pregnancy and postpartum period. Prepregnancy, the IGF I level was 60.6 nmol/L (normal, 18.0-43.1) and the daytime GH profile measured using assay A was 9.6-14.0 mU/L. At 13 weeks' gestation there was a decline of IGF I to 33.9 nmol/L and in the daytime GH profile (assay A) to 5.4-6.8 mU/L. At 24 weeks, IGF I had risen to 51.6 nmol/L. At 36 weeks, IGF I was still elevated at 56.6 nmol/L, with a daytime GH profile of 16.6-17.7 mU/L using assay A. At 12 weeks postpartum, the daytime GH profile with assay B was 5.6-8.6 mU/L. The authors concluded that GH suppression during pregnancy in acromegaly associated with McCune-Albright syndrome is best shown with assay B, which discriminates between GH and human placental lactogen (HPL; <a href="/entry/150200">150200</a>). They also stated that GH secretion in a pregnant acromegalic with the McCune-Albright syndrome may not be entirely autonomous, as seen in classic acromegaly, but may be associated with a degree of negative feedback control that could be exerted by a circulating factor of placental origin, probably HPL or placental GH (GH2; <a href="/entry/139240">139240</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11397839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Di George, A. M. <strong>Albright syndrome: is it coming of age? (Editorial)</strong> J. Pediat. 87: 1018-1020, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1185384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1185384</a>] [<a href="https://doi.org/10.1016/s0022-3476(75)80952-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1185384">Di George (1975)</a> reviewed unusual features of the syndrome and the evidence that the endocrinopathy represents autonomous function of the endocrine glands. Two main hypotheses had been stated: (1) excessive secretion of the hypothalamic releasing hormones is involved in the endocrinopathy of this disorder (<a href="#30" class="mim-tip-reference" title="Hall, R., Warrick, C. <strong>Hypersecretion of hypothalamic releasing hormones: a possible explanation of the endocrine manifestations of polyostotic fibrous dysplasia (Albright's syndrome).</strong> Lancet 299: 1313-1316, 1972. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4113403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4113403</a>] [<a href="https://doi.org/10.1016/s0140-6736(72)91038-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4113403">Hall and Warrick, 1972</a>); and (2) this disorder represents multiple, circumscribed embryonic alterations in a variety of tissues resulting from clones of cells characterized by autonomous behavior, and perhaps aberrant behavior, toward otherwise normal stimuli. The latter hypothesis appeared to be the more compatible with the skeletal, cutaneous, and endocrinologic features and with the mosaic hypothesis of <a href="#32" class="mim-tip-reference" title="Happle, R. <strong>The McCune-Albright syndrome: a lethal gene surviving by mosaicism.</strong> Clin. Genet. 29: 321-324, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3720010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3720010</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01261.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3720010">Happle (1986)</a>; its validity was proved by demonstration of mosaicism for mutations in the GNAS1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4113403+1185384+3720010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Majzoub, J. A., Scully, R. E. <strong>A six-year-old boy with multiple bone lesions, repeated fractures, and sexual precocity.</strong> New Eng. J. Med. 328: 496-502, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8421479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8421479</a>] [<a href="https://doi.org/10.1056/NEJM199302183280709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8421479">Majzoub and Scully (1993)</a> described a 6-year-old boy who had apocrine sweat, facial acne, Tanner stage 2 pubic hair, and midpubertal-sized testes and penis, all indicative of precocious puberty, in association with osseous changes of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8421479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>A patient, aged 50 years, with McCune-Albright syndrome had a large syrinx (syringomyelia) causing neurologic manifestations in the arms and legs (<a href="#48" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1988."None>McKusick, 1988</a>). Because of a linear midline pigmentation in the high cervical area posteriorly, in the same area of the syrinx, the possibility can be raised that the syrinx, which extended from C2 to T11, was a primary manifestation of the syndrome. The patient also had extensive involvement of the base of the skull with Arnold-Chiari syndrome (i.e., extension of cerebellar tissue through the foramen magnum). He had had hyperthyroidism, as reported by <a href="#31" class="mim-tip-reference" title="Hamilton, C. R., Jr., Maloof, F. <strong>Unusual types of hyperthyroidism.</strong> Medicine 52: 195-213, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20407411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20407411</a>] [<a href="https://doi.org/10.1097/00005792-197305000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20407411">Hamilton and Maloof (1973)</a>. (The same patient had severe craniofacial hyperostosis and was demonstrably mosaic for a specific GNAS1 mutation, i.e., arg201-to-his (<a href="/entry/139320#0009">139320.0009</a>).) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20407411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Abs, R., Beckers, A., Van de Vyver, F. L., De Schepper, A., Stevenaert, A., Hennen, G. <strong>Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia: a variant of the McCune-Albright syndrome.</strong> J. Endocr. Invest. 13: 671-675, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2273209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2273209</a>] [<a href="https://doi.org/10.1007/BF03349592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2273209">Abs et al. (1990)</a> described a case of atypical McCune-Albright syndrome; a 36-year-old woman had acromegaly due to a pituitary adenoma, a toxic multinodular goiter that was associated with spontaneous normalization of thyroid function, and asymptomatic polyostotic fibrous dysplasia. There was no skin pigmentation and no sexual precocity. See <a href="/entry/139320#0009">139320.0009</a> for discussion of the molecular basis of the association of pituitary tumor with McCune-Albright syndrome. <a href="#12" class="mim-tip-reference" title="Chanson, P., Dib, A., Visot, A., Derome, P. J. <strong>McCune-Albright syndrome and acromegaly: clinical studies and responses to treatment in five cases.</strong> Europ. J. Endocr. 131: 229-234, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7921205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7921205</a>] [<a href="https://doi.org/10.1530/eje.0.1310229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7921205">Chanson et al. (1994)</a> reported 5 patients with McCune-Albright syndrome and acromegaly. In all, acromegaly began before the age of 20 years and was recognized after the diagnosis of fibrous dysplasia, which was polyostotic in 3 and monostotic in 2. Bone fibrous dysplasia always involved the base of the skull and in 4 patients prevented surgical removal of the pituitary adenoma, which was visualized easily by MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2273209+7921205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#70" class="mim-tip-reference" title="Yoshimoto, M., Nakayama, M., Baba, T., Uehara, Y., Niikawa, N., Ito, M., Tsuji, Y. <strong>A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism.</strong> Acta Paediat. Scand. 80: 984-987, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1755313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1755313</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1991.tb11769.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1755313">Yoshimoto et al. (1991)</a> described the extraordinary case of a female infant who at birth had cutaneous pigmentation, hyperthyroidism, and Cushing syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1755313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Mastorakos, G., Mitsiades, N. S., Doufas, A. G., Koutras, D. A. <strong>Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report.</strong> Thyroid 7: 433-439, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9226216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9226216</a>] [<a href="https://doi.org/10.1089/thy.1997.7.433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9226216">Mastorakos et al. (1997)</a> described a 6-year-old girl with MAS and hyperthyroidism and reviewed the previously reported 63 patients with MAS and thyroid disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9226216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Kirk, J. M. W., Brain, C. E., Carson, D. J., Hyde, J. C., Grant, D. B. <strong>Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.</strong> J. Pediat. 134: 789-792, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10356155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10356155</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70302-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10356155">Kirk et al. (1999)</a> presented 5 children (4 girls) with features of McCune-Albright syndrome who had Cushing syndrome in the infantile period (under 6 months of age). In 2 children, spontaneous resolution occurred, but the remaining 3 required bilateral adrenalectomy. In addition, all 4 girls experienced precocious puberty, and 3 children demonstrated radiologic evidence of nephrocalcinosis. In 1 patient, laparotomy, performed at 7 weeks of age because of vomiting and abdominal distention, revealed multiloculated ovarian cysts. Bilateral adrenalectomy was performed at 3 months for nodular hyperplasia. Irregular vaginal bleeding in association with breast development occurred by 11 months of age. Thyrotoxicosis subsequently developed, and the patient had a number of pathologic fractures of both femurs through polyostotic lesions and had marked spinal deformity. <a href="#35" class="mim-tip-reference" title="Kirk, J. M. W., Brain, C. E., Carson, D. J., Hyde, J. C., Grant, D. B. <strong>Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.</strong> J. Pediat. 134: 789-792, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10356155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10356155</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70302-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10356155">Kirk et al. (1999)</a> postulated that the hypercalcemia and hypercalciuria leading to renal stones are secondary to the effects of cortisol on bone turnover. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10356155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#69" class="mim-tip-reference" title="Yang, G. C. H., Yao, J. L., Feiner, H. D., Roses, D. F., Kumar, A., Mulder, J. E. <strong>Lipid-rich follicular carcinoma of the thyroid in a patient with McCune-Albright syndrome.</strong> Mod. Path. 12: 969-973, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10530562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10530562</a>]" pmid="10530562">Yang et al. (1999)</a> reported a case of thyroid cancer in McCune-Albright syndrome. <a href="#15" class="mim-tip-reference" title="Collins, M. T., Sarlis, N. J., Merino, M. J., Monroe, J., Crawford, S. E., Krakoff, J. A., Guthrie, L. C., Bonat, S., Robey, P. G., Shenker, A. <strong>Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating G(s)-alpha mutations.</strong> J. Clin. Endocr. Metab. 88: 4413-4417, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12970318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12970318</a>] [<a href="https://doi.org/10.1210/jc.2002-021642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12970318">Collins et al. (2003)</a> reported a second case and reviewed both cases, extending the phenotypic spectrum of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12970318+10530562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Phenotypic Variation</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Cole, D. E. C., Fraser, F. C., Glorieux, F. H., Jequier, S., Marie, P. J., Reade, T. M., Scriver, C. R. <strong>Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia.</strong> Am. J. Med. Genet. 14: 725-735, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6846403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6846403</a>] [<a href="https://doi.org/10.1002/ajmg.1320140414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6846403">Cole et al. (1983)</a> reported the case of a French-Canadian boy, of nonconsanguineous parents, who had unusual facial appearance (depressed nasal bridge, synophrys, and forehead hirsutism), 'coast of Maine' pigmented patches, myelofibrosis, recurrent femoral fractures and widespread fibrous dysplasia of bone leading to the suggested designation 'panostotic fibrous dysplasia.' Biochemical findings included elevated serum alkaline phosphatase (bone isozyme) and 1,25-(OH)2 vitamin D and low serum phosphorus levels. Increased turnover of bone was indicated by urinary excretion rates of hydroxyproline, glycylproline, and gamma-carboxyglutamic acid. Progressive cortical thinning and loss of bony trabeculae were demonstrated by serial x-rays and supported by bone biopsy. No precisely similar case was known. <a href="#11" class="mim-tip-reference" title="Candeliere, G. A., Glorieux, F. H., Prud'Homme, J., St.-Arnaud, R. <strong>Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia.</strong> New Eng. J. Med. 332: 1546-1551, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7739708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7739708</a>] [<a href="https://doi.org/10.1056/NEJM199506083322304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7739708">Candeliere et al. (1995)</a> demonstrated that this patient, then a 14-year-old boy, had an arg201-to-cys mutation in the GNAS1 gene (<a href="/entry/139320#0008">139320.0008</a>). Thus, this was an unusually severe form of McCune-Albright syndrome not fundamentally different from that disorder or perhaps from monostotic fibrous dysplasia. <a href="#14" class="mim-tip-reference" title="Cole, D. E. C. <strong>Personal Communication.</strong> Toronto, Canada 2/17/1996."None>Cole (1996)</a> pointed out that the patient with 'idiopathic hyperphosphatasia with dermal pigmentation' reported by <a href="#22" class="mim-tip-reference" title="Dohler, J. R., Souter, W. A., Beggs, I., Smith, G. D. <strong>Idiopathic hyperphosphatasia with dermal pigmentation: a twenty-year follow-up.</strong> J. Bone Joint Surg. Br. 68: 305-310, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3007527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3007527</a>] [<a href="https://doi.org/10.1302/0301-620X.68B2.3007527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3007527">Dohler et al. (1986)</a> appears to have had the same disorder as the patient reported by <a href="#13" class="mim-tip-reference" title="Cole, D. E. C., Fraser, F. C., Glorieux, F. H., Jequier, S., Marie, P. J., Reade, T. M., Scriver, C. R. <strong>Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia.</strong> Am. J. Med. Genet. 14: 725-735, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6846403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6846403</a>] [<a href="https://doi.org/10.1002/ajmg.1320140414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6846403">Cole et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6846403+7739708+3007527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="de Sanctis, C., Lala, R., Matarazzo, P., Balsamo, A., Bergamaschi, R., Cappa, M., Cisternino, M., de Sanctis, V., Lucci, M., Franzese, A., Ghizzoni, L., Pasquino, A. M., Segni, M., Rigon, F., Saggese, G., Bertelloni, S., Buzi, F. <strong>McCune-Albright syndrome: a longitudinal clinical study of 32 patients.</strong> J. Pediat. Endocr. Metab. 12: 817-826, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10614538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10614538</a>] [<a href="https://doi.org/10.1515/jpem.1999.12.6.817" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10614538">De Sanctis et al. (1999)</a> reported the diagnostic clinical features and their long-term evolution in 32 patients with McCune-Albright syndrome. Almost all patients had skin changes at birth. There was a 50% probability of bone dysplasia at 8 years of age and a 50% probability of precocious puberty in females at 4 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10614538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Coutant, R., Lumbroso, S., Rey, R., Lahlou, N., Venara, M., Rouleau, S., Sultan, C., Limal, J.-M. <strong>Macroorchidism due to autonomous hyperfunction of Sertoli cells and GS-alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy.</strong> J. Clin. Endocr. Metab. 86: 1778-1781, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11297617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11297617</a>] [<a href="https://doi.org/10.1210/jcem.86.4.7391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11297617">Coutant et al. (2001)</a> reported a 3.8-year-old boy with McCune-Albright syndrome associated with abnormal prepubertal testis enlargement and no sexual precocity. Physical examination showed cafe-au-lait skin lesions, enlarged testes, prepubertal sized penis, and no pubic or axillary hair. Skeletal radiography disclosed fibrous dysplasia. The serum testosterone level was 0.58 nmol/L and remained below 1.4 nmol/L during the 4-year follow-up. By contrast, serum inhibin B (see <a href="/entry/147290">147290</a>) and anti-mullerian hormone (<a href="/entry/600957">600957</a>) concentrations were abnormally increased up to 255 pg/mL (childhood range, 35-180) and 792 pmol/L (childhood range, 309-566), respectively. The luteinizing hormone (LH; <a href="/entry/152780">152780</a>) response to a gonadotropin-releasing hormone (GnRH; <a href="/entry/152760">152760</a>) test was in the prepubertal range, whereas the follicle-stimulating hormone (FSH; <a href="/entry/136530">136530</a>) response was blunted. This abnormal hormone concentration profile indicated autonomous hyperfunction of Sertoli cells, with no evidence of Leydig cell activation. Testicular histology showed tubules with marked Sertoli cell hyperplasia and very rare germinal cells, and interstitial tissue containing mesenchymal cells but no mature Leydig cells. DNA sequence analysis from bone and testis tissues detected the known activating mutation in MAS that results in the arg201-to-his mutation in the GNAS1 protein (<a href="/entry/139320#0009">139320.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11297617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#71" class="mim-tip-reference" title="Zacharin, M., Bajpai, A., Chow, C. W., Catto-Smith, A., Stratakis, C., Wong, M. W., Scott, R. <strong>Gastrointestinal polyps in McCune Albright syndrome.</strong> J. Med. Genet. 48: 458-461, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21357941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21357941</a>] [<a href="https://doi.org/10.1136/jmg.2010.086330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21357941">Zacharin et al. (2011)</a> reported 4 unrelated patients with MAS who had multiple hamartomatous gastrointestinal polyps in the stomach and/or duodenum. Two of the patients were noted to have perioral freckling in their early teens, reminiscent of Peutz-Jeghers syndrome (PJS; <a href="/entry/175200">175200</a>) and were thus examined endoscopically. The polyps showed a branching pattern with prominent cores of smooth muscle covered by well-differentiated epithelium. Molecular analysis of peripheral blood identified activating mutations in the GNAS gene in 3 of the 4 patients; none of the patients had STK11 (<a href="/entry/602216">602216</a>) mutations. Molecular analysis of the gastrointestinal polyps showed no GNAS mutation in 1 patient, LOH of the GNAS locus in 1 patient, the same GNAS mutation as found in peripheral blood in 1 patient, and heterozygosity for a GNAS activating mutation only in the polyp in the patient without a mutation in peripheral blood. <a href="#71" class="mim-tip-reference" title="Zacharin, M., Bajpai, A., Chow, C. W., Catto-Smith, A., Stratakis, C., Wong, M. W., Scott, R. <strong>Gastrointestinal polyps in McCune Albright syndrome.</strong> J. Med. Genet. 48: 458-461, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21357941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21357941</a>] [<a href="https://doi.org/10.1136/jmg.2010.086330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21357941">Zacharin et al. (2011)</a> concluded that patients with MAS should undergo routine endoscopy, as gastrointestinal polyps may be a common manifestation of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21357941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Few convincing instances of familial occurrence of POFD have been reported. <a href="#33" class="mim-tip-reference" title="Hibbs, R. E., Rush, H. P. <strong>Albright's syndrome.</strong> Ann. Intern. Med. 37: 587-593, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12976957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12976957</a>] [<a href="https://doi.org/10.7326/0003-4819-37-3-587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12976957">Hibbs and Rush (1952)</a> reported the case of a 50-year-old woman with typical skin pigmentation and involvement of multiple bones. The daughter had no skin pigmentation (which is absent in some cases) but had a pathologic fracture of the left radius and radiologic and histologic changes interpreted as those of fibrous dysplasia. <a href="#28" class="mim-tip-reference" title="Firat, D., Stutzman, L. <strong>Fibrous dysplasia of the bone: review of twenty-four cases.</strong> Am. J. Med. 44: 421-429, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5644094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5644094</a>] [<a href="https://doi.org/10.1016/0002-9343(68)90112-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5644094">Firat and Stutzman (1968)</a> described hyperthyroidism in 1 patient who also had pituitary gigantism and hyperparathyroidism in 2 others. The last 2 cases were mother and daughter. The fibrous dysplasia was limited to the jaw. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5644094+12976957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="Reitzik, M., Lownie, J. F. <strong>Familial polyostotic fibrous dysplasia.</strong> Oral Surg. 40: 769-774, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1060033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1060033</a>] [<a href="https://doi.org/10.1016/0030-4220(75)90446-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1060033">Reitzik and Lownie (1975)</a> described a family in which many members had craniofacial POFD in an autosomal dominant pedigree pattern. This may have represented, however, an entity distinct from MAS. <a href="#6" class="mim-tip-reference" title="Alvarez-Arratia, M. C., Rivas, F., Avila-Abundis, A., Hernandez, A., Nazara, Z., Lopez, C., Castillo, A., Cantu, J. M. <strong>A probable monogenic form of polyostotic fibrous dysplasia.</strong> Clin. Genet. 24: 132-139, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6577994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6577994</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1983.tb02224.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6577994">Alvarez-Arratia et al. (1983)</a> presented a family that had several members in at least 3 generations with the bony and cutaneous lesions of polyostotic fibrous dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1060033+6577994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Happle, R. <strong>The McCune-Albright syndrome: a lethal gene surviving by mosaicism.</strong> Clin. Genet. 29: 321-324, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3720010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3720010</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01261.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3720010">Happle (1986)</a> made the intriguing suggestion that this disorder is caused by an autosomal dominant lethal gene that is compatible with viability of the conceptus only when it occurs in the mosaic state, having arisen by somatic mutation. <a href="#23" class="mim-tip-reference" title="Endo, M., Yamada, Y., Matsuura, N., Niikawa, N. <strong>Monozygotic twins discordant for the major signs of McCune-Albright syndrome.</strong> Am. J. Med. Genet. 41: 216-220, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1838461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1838461</a>] [<a href="https://doi.org/10.1002/ajmg.1320410217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1838461">Endo et al. (1991)</a> described monozygotic twin girls of whom one showed major signs of MAS: precocious puberty, cafe-au-lait nevi, and polyostotic fibrous dysplasia. The lack of fully convincing familial cases, except for the occurrence in monozygotic twins (<a href="#39" class="mim-tip-reference" title="Lemli, L. <strong>Fibrous dysplasia of bone: report of female monozygotic twins with and without the McCune-Albright syndrome.</strong> J. Pediat. 91: 947-949, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/200724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">200724</a>] [<a href="https://doi.org/10.1016/s0022-3476(77)80898-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="200724">Lemli, 1977</a>), is consistent with the Happle hypothesis. (In the twins reported by <a href="#39" class="mim-tip-reference" title="Lemli, L. <strong>Fibrous dysplasia of bone: report of female monozygotic twins with and without the McCune-Albright syndrome.</strong> J. Pediat. 91: 947-949, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/200724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">200724</a>] [<a href="https://doi.org/10.1016/s0022-3476(77)80898-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="200724">Lemli (1977)</a>, one had classic signs of McCune-Albright syndrome and the other had only radiologic signs of bone disease and elevated serum alkaline phosphatase.) The frequency of the disorder is about equal in males and females. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1838461+200724+3720010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Feuillan, P. P., Jones, J., Oerter, K. E., Manasco, P. K., Cutler, G. B., Jr. <strong>Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome.</strong> J. Clin. Endocr. Metab. 73: 1370-1373, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1955519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1955519</a>] [<a href="https://doi.org/10.1210/jcem-73-6-1370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1955519">Feuillan et al. (1991)</a> reported the cases of 2 girls with precocious puberty initially diagnosed at the ages of 1 and 4 years. Both were unresponsive to treatment with the LHRH (luteinizing hormone-releasing hormone; <a href="/entry/152760">152760</a>) agonist deslorelin for 5 years. In this respect they resembled patients with the McCune-Albright syndrome, but they had none of the other manifestations of MAS. <a href="#27" class="mim-tip-reference" title="Feuillan, P. P., Jones, J., Oerter, K. E., Manasco, P. K., Cutler, G. B., Jr. <strong>Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome.</strong> J. Clin. Endocr. Metab. 73: 1370-1373, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1955519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1955519</a>] [<a href="https://doi.org/10.1210/jcem-73-6-1370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1955519">Feuillan et al. (1991)</a> suggested that although the underlying defect was absent in bone and skin, it was expressed in the ovaries of the 2 girls. This suggestion is consistent with the view that the McCune-Albright syndrome is a somatic mutation disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1955519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#56" class="mim-tip-reference" title="Plotkin, H., Rauch, F., Zeitlin, L., Munns, C., Travers, R., Glorieux, F. H. <strong>Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone.</strong> J. Clin. Endocr. Metab. 88: 4569-4575, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557424</a>] [<a href="https://doi.org/10.1210/jc.2003-030050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557424">Plotkin et al. (2003)</a> investigated the effects of intravenous pamidronate treatment in 18 children and adolescents with polyostotic fibrous dysplasia who were treated for 1.2 to 9.1 years. Although not quantitatively examined, pamidronate appeared to be effective in reducing bone pain. However, there was no radiographic evidence of filling of lytic lesions or thickening of the bone cortex surrounding the lesions in any patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Feuillan, P., Calis, K., Hill, S., Shawker, T., Robey, P. G., Collins, M. T. <strong>Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study.</strong> J. Clin. Endocr. Metab. 92: 2100-2106, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17405850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17405850</a>] [<a href="https://doi.org/10.1210/jc.2006-2350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17405850">Feuillan et al. (2007)</a> studied the effectiveness of the aromatase inhibitor letrozole in decreasing pubertal progression in girls with MAS and assessed the response of indices of bone turnover associated with the patients' polyostotic fibrous dysplasia. Girls had decreased rates of growth (p less than 0.01) and bone age advance (p less than 0.004) and cessation or slowing in their rates of bleeding over 12 to 36 months of therapy. Mean ovarian volume, estradiol, and indices of bone metabolism fell after 6 months (p less than 0.05) but tended to rise by 24 to 36 months. <a href="#25" class="mim-tip-reference" title="Feuillan, P., Calis, K., Hill, S., Shawker, T., Robey, P. G., Collins, M. T. <strong>Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study.</strong> J. Clin. Endocr. Metab. 92: 2100-2106, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17405850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17405850</a>] [<a href="https://doi.org/10.1210/jc.2006-2350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17405850">Feuillan et al. (2007)</a> concluded that letrozole may be effective therapy in some girls with MAS and/or gonadotropin-independent precocious puberty. Possible adverse effects include ovarian enlargement and cyst formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17405850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#49" class="mim-tip-reference" title="Mieszczak, J., Lowe, E. S., Plourde, P., Eugster, E. A. <strong>The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome.</strong> J. Clin. Endocr. Metab. 93: 2751-2754, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18397987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18397987</a>] [<a href="https://doi.org/10.1210/jc.2007-2090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18397987">Mieszczak et al. (2008)</a> determined the safety and efficacy of the aromatase inhibitor anastrozole for the treatment of precocious puberty in girls with McCune-Albright syndrome. Although it appeared safe, anastrozole for 1 year was ineffective in halting vaginal bleeding and attenuating rates of skeletal maturation and linear growth in girls with McCune-Albright syndrome. The authors concluded that pharmacologic strategies other than anastrozole should be pursued for the treatment of precocious puberty in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18397987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The mystery of the etiology and pathogenesis of polyostotic fibrous dysplasia appears to have been solved by the identification of activating mutations in the GNAS1 gene (<a href="/entry/139320">139320</a>) which render the gene functionally constitutive (<a href="#66" class="mim-tip-reference" title="Weinstein, L. S., Shenker, A., Gejman, P. V., Merino, M. J., Friedman, E., Spiegel, A. M. <strong>Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.</strong> New Eng. J. Med. 325: 1688-1695, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1944469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1944469</a>] [<a href="https://doi.org/10.1056/NEJM199112123252403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1944469">Weinstein et al., 1991</a>; <a href="#60" class="mim-tip-reference" title="Schwindinger, W. F., Francomano, C. A., Levine, M. A. <strong>Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome.</strong> Proc. Nat. Acad. Sci. 89: 5152-5156, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1594625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1594625</a>] [<a href="https://doi.org/10.1073/pnas.89.11.5152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1594625">Schwindinger et al., 1992</a>). Similar mutations leading to constitutive activation of this gene had been identified in some human growth hormone secreting pituitary tumors and human thyroid tumors. Furthermore, the demonstration of the mutation in peripheral blood leukocytes but not in DNA from biopsies of clinically normal skin supports the proposal of <a href="#32" class="mim-tip-reference" title="Happle, R. <strong>The McCune-Albright syndrome: a lethal gene surviving by mosaicism.</strong> Clin. Genet. 29: 321-324, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3720010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3720010</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01261.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3720010">Happle (1986)</a> that this is a disorder of mosaicism resulting from postzygotic somatic cell mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1594625+1944469+3720010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Kitoh, H., Yamada, Y., Nogami, H. <strong>Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia.</strong> J. Med. Genet. 36: 724-725, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507737</a>]" pmid="10507737">Kitoh et al. (1999)</a> found a mutation in GNAS1 in endosteal, but not in periosteal, cells taken from a cystic lesion of the humerus of an 11-year-old boy with polyostotic fibrous dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Bianco, P., Kuznetsov, S. A., Riminucci, M., Fisher, L. W., Spiegel, A. M., Robey, P. G. <strong>Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gs-alpha-mutated skeletal progenitor cells.</strong> J. Clin. Invest. 101: 1737-1744, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9541505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9541505</a>] [<a href="https://doi.org/10.1172/JCI2361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9541505">Bianco et al. (1998)</a> isolated progenitor cells from the stromal system of the bone marrow involved in fibrous dysplasia in patients with McCune-Albright syndrome and analyzed these cells in culture. Analysis of the GNAS1 gene from individual colonies provided direct evidence for the presence of 2 different genotypes within single fibrous dysplastic lesions: marrow stromal cells containing 2 normal GNAS1 alleles, and those containing a normal allele and an allele with an activating mutation. Transplantation of clonal populations of normal cells into the subcutis of immunocompromised mice resulted in normal ossicle formation. In contrast, transplantation of clonal populations of mutant cells always led to the loss of transplanted cells from the transplantation site and no ossicle formation. However, transplantation of a mixture of normal and mutant cells reproduced an abnormal ectopic ossicle recapitulating human fibrous dysplasia and providing an in vivo cellular model of this disease. The results provided experimental evidence for the need of both normal and mutant cells in the development of McCune-Albright syndrome fibrous dysplastic lesions in bone. This study confirmed the hypothesis of <a href="#32" class="mim-tip-reference" title="Happle, R. <strong>The McCune-Albright syndrome: a lethal gene surviving by mosaicism.</strong> Clin. Genet. 29: 321-324, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3720010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3720010</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01261.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3720010">Happle (1986)</a>. It also confirmed the editorial comment of <a href="#21" class="mim-tip-reference" title="Di George, A. M. <strong>Albright syndrome: is it coming of age? (Editorial)</strong> J. Pediat. 87: 1018-1020, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1185384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1185384</a>] [<a href="https://doi.org/10.1016/s0022-3476(75)80952-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1185384">Di George (1975)</a> concluding with the remark that MAS is 'a rare disorder, yes; an unimportant one, never' (<a href="#55" class="mim-tip-reference" title="Olsen, B. R. <strong>A rare disorder, yes; an unimportant one, never. (Editorial)</strong> J. Clin. Invest. 101: 1545-1546, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9541481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9541481</a>] [<a href="https://doi.org/10.1172/JCI3441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9541481">Olsen, 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1185384+9541505+9541481+3720010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Bianco, P., Riminucci, M., Majolagbe, A., Kuznetsov, S. A., Collins, M. T., Mankani, M. H., Corsi, A., Bone, H. G., Wientroub, S., Spiegel, A. M., Fisher, L. W., Robey, P. G. <strong>Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.</strong> J. Bone Miner. Res. 15: 120-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10646121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10646121</a>] [<a href="https://doi.org/10.1359/jbmr.2000.15.1.120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10646121">Bianco et al. (2000)</a> analyzed a series of 8 consecutive cases of isolated fibrous dysplasia without the classic features of McCune-Albright syndrome and identified arg201 mutations in the GNAS1 gene in all of them. Histologic findings in these cases were not distinguishable from those observed in MAS-related fibrous dysplasia and included subtle changes in cell shape and collagen texture putatively ascribed to excess endogenous cAMP. Unmineralized osteoid changes characteristic of osteomalacia were prominent in lesional fibrous dysplasia. <a href="#10" class="mim-tip-reference" title="Bianco, P., Riminucci, M., Majolagbe, A., Kuznetsov, S. A., Collins, M. T., Mankani, M. H., Corsi, A., Bone, H. G., Wientroub, S., Spiegel, A. M., Fisher, L. W., Robey, P. G. <strong>Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.</strong> J. Bone Miner. Res. 15: 120-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10646121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10646121</a>] [<a href="https://doi.org/10.1359/jbmr.2000.15.1.120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10646121">Bianco et al. (2000)</a> concluded that the findings support the view that fibrous dysplasia, MAS, and nonskeletal isolated endocrine lesions associated with GNAS1 mutations represent a spectrum of phenotypic expressions, probably reflecting different patterns of somatic mosaicism, of the same basic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10646121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Akintoye, S. O., Chebli, C., Booher, S., Feuillan, P., Kushner, H., Leroith, D., Cherman, N., Bianco, P., Wientroub, S., Robey, P. G., Collins, M. T. <strong>Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome.</strong> J. Clin. Endocr. Metab. 87: 5104-5112, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414879</a>] [<a href="https://doi.org/10.1210/jc.2001-012022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414879">Akintoye et al. (2002)</a> noted that the molecular etiology of MAS is postzygotic activating mutations of the GNAS1 gene product, the alpha subunit of the Gs protein. The term 'GSP oncogene' has been assigned to these mutations due to their association with certain neoplasms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Collins, M. T., Sarlis, N. J., Merino, M. J., Monroe, J., Crawford, S. E., Krakoff, J. A., Guthrie, L. C., Bonat, S., Robey, P. G., Shenker, A. <strong>Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating G(s)-alpha mutations.</strong> J. Clin. Endocr. Metab. 88: 4413-4417, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12970318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12970318</a>] [<a href="https://doi.org/10.1210/jc.2002-021642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12970318">Collins et al. (2003)</a> performed molecular analysis of thyroid carcinomas from 2 McCune-Albright syndrome patients and demonstrated that foci of malignancy and adjacent areas of hyperplasia and, in 1 case, some areas of normal thyroid harbored an activating mutation of GNAS1 at the arg201 codon (<a href="/entry/139320#0008">139320.0008</a> and <a href="/entry/139320#0009">139320.0009</a>, respectively). The authors concluded that these 2 cases of thyroid carcinoma in MAS supported the hypothesis that activation of the G(s) signaling cascade alone is insufficient for malignant transformation of thyroid or other endocrine cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12970318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a PCR-based sensitive method, <a href="#42" class="mim-tip-reference" title="Lumbroso, S., Paris, F., Sultan, C. <strong>Activating Gs-alpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European collaborative study.</strong> J. Clin. Endocr. Metab. 89: 2107-2113, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15126527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15126527</a>] [<a href="https://doi.org/10.1210/jc.2003-031225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15126527">Lumbroso et al. (2004)</a> reported a systematic search for Gs-alpha arg201 mutations in patients presenting with at least 1 of the signs of MAS. They studied 113 patients (98 girls and 15 boys), 24% presenting the classic triad, 33% with 2 signs, and 40% with only 1 classic sign. Overall, mutation of the arg201 codon was identified in 43% of the patients. When an affected tissue was available, the mutation was found in more than 90% of the patients, whatever the number of signs. Skin was a noteworthy exception because only 3 of 11 skin samples were positive. The mutation was detected in 46% of blood samples in patients presenting the classic triad, whereas this figure fell to 21% and 8% in patients with 2 and 1 sign, respectively. The authors concluded that affections as clinically different as monostotic fibrous dysplasia, isolated peripheral precocious puberty, neonatal liver cholestasis, and the classic MAS all appear to be components of a wide spectrum of diseases based on the same molecular defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15126527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>This disorder was first described by <a href="#47" class="mim-tip-reference" title="McCune, D. J., Bruch, H. <strong>Progress in pediatrics: osteodystrophia fibrosa.</strong> Am. J. Dis. Child. 54: 806-848, 1937."None>McCune and Bruch (1937)</a> and Albright et al. (<a href="#3" class="mim-tip-reference" title="Albright, F., Butler, A. M., Hampton, A. O., Smith, P. <strong>Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases.</strong> New Eng. J. Med. 216: 727-746, 1937."None>1937</a>, <a href="#5" class="mim-tip-reference" title="Albright, F., Scoville, B., Sulkowitch, H. W. <strong>Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation, and a gonadal dysfunction: further observations including the report of two more cases.</strong> Endocrinology 22: 411-421, 1938."None>1938</a>). Affected persons came to the attention of Fuller Albright because of the similarity of the skeletal changes to those of osteitis fibrosa cystica resulting from hyperparathyroidism (<a href="#7" class="mim-tip-reference" title="Axelrod, L. <strong>Bones, stones and hormones: the contributions of Fuller Albright.</strong> New Eng. J. Med. 283: 964-970, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4919084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4919084</a>] [<a href="https://doi.org/10.1056/NEJM197010292831805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4919084">Axelrod, 1970</a>). <a href="#41" class="mim-tip-reference" title="Lichtenstein, L. <strong>Polyostotic fibrous dysplasia.</strong> Arch. Surg. 36: 874-898, 1938."None>Lichtenstein (1938)</a> introduced the designation 'polyostotic fibrous dysplasia' for the skeletal aspect of the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4919084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#53" class="mim-tip-reference" title="Nerlich, A., Peschel, O., Lohrs, U., Parsche, F., Betz, P. <strong>Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant. (Letter)</strong> Lancet 338: 886-887, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1681239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1681239</a>] [<a href="https://doi.org/10.1016/0140-6736(91)91542-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1681239">Nerlich et al. (1991)</a> suggested that Thomas Hasler, the 'Tegernsee giant,' had a combination of juvenile gigantism and polyostotic fibrous dysplasia. It would not be surprising if the two occurred together in light of the fact that the same somatic mutation is found in PFD and in growth hormone-secreting tumors of the pituitary (see <a href="/entry/102200">102200</a>) (<a href="#59" class="mim-tip-reference" title="Schwindinger, W. F., Francomano, C. A., Levine, M. A., McKusick, V. A. <strong>DNA light on the Tegernsee giant. (Letter)</strong> Lancet 338: 1454-1455, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683435</a>] [<a href="https://doi.org/10.1016/0140-6736(91)92752-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1683435">Schwindinger et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1683435+1681239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Comite1984" class="mim-tip-reference" title="Comite, F., Shawker, T. H., Pescovitz, O. H., Loriaux, D. L., Cutler, G. B., Jr. <strong>Cyclical ovarian function resistant to treatment with an analogue of luteinizing hormone releasing hormone in McCune-Albright syndrome.</strong> New Eng. J. Med. 311: 1032-1036, 1984.">Comite et al. (1984)</a>; <a href="#Feuillan1986" class="mim-tip-reference" title="Feuillan, P. P., Foster, C. M., Pescovitz, O. H., Hench, K. D., Shawker, T., Dwyer, A., Malley, J. D., Barnes, K., Loriaux, D. L., Cutler, G. B., Jr. <strong>Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone.</strong> New Eng. J. Med. 315: 1115-1119, 1986.">Feuillan et al. (1986)</a>; <a href="#Nakagawa1985" class="mim-tip-reference" title="Nakagawa, H., Nagasaka, A., Sugiura, T., Nakagawa, K., Yabe, Y., Nihei, N., Hirooka, M., Itoh, M., Nakai, A., Ohyama, T., Aono, T., Gerich, J. E. <strong>Gigantism associated with McCune-Albright's syndrome.</strong> Horm. Metab. Res. 17: 522-527, 1985.">Nakagawa et al. (1985)</a>; <a href="#Shires1979" class="mim-tip-reference" title="Shires, R., Whyte, M. P., Avioli, L. V. <strong>Idiopathic hypothalamic hypogonadotropic hypogonadism with polyostotic fibrous dysplasia.</strong> Arch. Intern. Med. 139: 1187-1189, 1979.">Shires et al. (1979)</a>; <a href="#Wirth1971" class="mim-tip-reference" title="Wirth, W. A., Leavitt, D., Enzinger, F. M. <strong>Multiple intramuscular myxomas: another extraskeletal manifestation of fibrous dysplasia.</strong> Cancer 27: 1167-1173, 1971.">Wirth et al. (1971)</a>
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Abs, R., Beckers, A., Van de Vyver, F. L., De Schepper, A., Stevenaert, A., Hennen, G.
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<strong>Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia: a variant of the McCune-Albright syndrome.</strong>
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J. Endocr. Invest. 13: 671-675, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2273209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2273209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2273209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF03349592" target="_blank">Full Text</a>]
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Akintoye, S. O., Chebli, C., Booher, S., Feuillan, P., Kushner, H., Leroith, D., Cherman, N., Bianco, P., Wientroub, S., Robey, P. G., Collins, M. T.
|
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<strong>Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome.</strong>
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J. Clin. Endocr. Metab. 87: 5104-5112, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Albright, F., Butler, A. M., Hampton, A. O., Smith, P.
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<strong>Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases.</strong>
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New Eng. J. Med. 216: 727-746, 1937.
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Albright, F., Reifenstein, E. C., Jr.
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<strong>The Parathyroid Glands and Metabolic Bone Disease: Selected Studies.</strong>
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Baltimore: Williams and Wilkins (pub.) 1948.
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Albright, F., Scoville, B., Sulkowitch, H. W.
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<strong>Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation, and a gonadal dysfunction: further observations including the report of two more cases.</strong>
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Endocrinology 22: 411-421, 1938.
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Alvarez-Arratia, M. C., Rivas, F., Avila-Abundis, A., Hernandez, A., Nazara, Z., Lopez, C., Castillo, A., Cantu, J. M.
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<strong>A probable monogenic form of polyostotic fibrous dysplasia.</strong>
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Clin. Genet. 24: 132-139, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6577994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6577994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6577994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1983.tb02224.x" target="_blank">Full Text</a>]
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<strong>Bones, stones and hormones: the contributions of Fuller Albright.</strong>
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New Eng. J. Med. 283: 964-970, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4919084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4919084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4919084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM197010292831805" target="_blank">Full Text</a>]
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Benedict, P. H.
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<strong>Sex precocity and polyostotic fibrous dysplasia: report of a case in a boy with testicular biopsy.</strong>
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Am. J. Dis. Child. 111: 426-429, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5906056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5906056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5906056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archpedi.1966.02090070124020" target="_blank">Full Text</a>]
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Bianco, P., Kuznetsov, S. A., Riminucci, M., Fisher, L. W., Spiegel, A. M., Robey, P. G.
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<strong>Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gs-alpha-mutated skeletal progenitor cells.</strong>
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J. Clin. Invest. 101: 1737-1744, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9541505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9541505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9541505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI2361" target="_blank">Full Text</a>]
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Bianco, P., Riminucci, M., Majolagbe, A., Kuznetsov, S. A., Collins, M. T., Mankani, M. H., Corsi, A., Bone, H. G., Wientroub, S., Spiegel, A. M., Fisher, L. W., Robey, P. G.
|
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<strong>Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.</strong>
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J. Bone Miner. Res. 15: 120-128, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10646121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10646121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10646121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1359/jbmr.2000.15.1.120" target="_blank">Full Text</a>]
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Candeliere, G. A., Glorieux, F. H., Prud'Homme, J., St.-Arnaud, R.
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<strong>Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia.</strong>
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New Eng. J. Med. 332: 1546-1551, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7739708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7739708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7739708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199506083322304" target="_blank">Full Text</a>]
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Chanson, P., Dib, A., Visot, A., Derome, P. J.
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<strong>McCune-Albright syndrome and acromegaly: clinical studies and responses to treatment in five cases.</strong>
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Europ. J. Endocr. 131: 229-234, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7921205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7921205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7921205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1530/eje.0.1310229" target="_blank">Full Text</a>]
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Cole, D. E. C., Fraser, F. C., Glorieux, F. H., Jequier, S., Marie, P. J., Reade, T. M., Scriver, C. R.
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<strong>Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia.</strong>
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Am. J. Med. Genet. 14: 725-735, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6846403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6846403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6846403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320140414" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Cole1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cole, D. E. C.
|
|
<strong>Personal Communication.</strong>
|
|
Toronto, Canada 2/17/1996.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Collins2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Collins, M. T., Sarlis, N. J., Merino, M. J., Monroe, J., Crawford, S. E., Krakoff, J. A., Guthrie, L. C., Bonat, S., Robey, P. G., Shenker, A.
|
|
<strong>Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating G(s)-alpha mutations.</strong>
|
|
J. Clin. Endocr. Metab. 88: 4413-4417, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12970318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12970318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12970318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2002-021642" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Comite1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Comite, F., Shawker, T. H., Pescovitz, O. H., Loriaux, D. L., Cutler, G. B., Jr.
|
|
<strong>Cyclical ovarian function resistant to treatment with an analogue of luteinizing hormone releasing hormone in McCune-Albright syndrome.</strong>
|
|
New Eng. J. Med. 311: 1032-1036, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6434946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6434946</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6434946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198410183111607" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Coutant2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Coutant, R., Lumbroso, S., Rey, R., Lahlou, N., Venara, M., Rouleau, S., Sultan, C., Limal, J.-M.
|
|
<strong>Macroorchidism due to autonomous hyperfunction of Sertoli cells and GS-alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy.</strong>
|
|
J. Clin. Endocr. Metab. 86: 1778-1781, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11297617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11297617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11297617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.86.4.7391" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Cremonini1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cremonini, N., Graziano, E., Chiarini, V., Sforza, A., Zampa, G. A.
|
|
<strong>Atypical McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma: natural history, long-term follow-up, and SMS 201-995--bromocriptine combined treatment results.</strong>
|
|
J. Clin. Endocr. Metab. 75: 1166-1169, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1400888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1400888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1400888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.75.4.1400888" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="de Sanctis1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
de Sanctis, C., Lala, R., Matarazzo, P., Balsamo, A., Bergamaschi, R., Cappa, M., Cisternino, M., de Sanctis, V., Lucci, M., Franzese, A., Ghizzoni, L., Pasquino, A. M., Segni, M., Rigon, F., Saggese, G., Bertelloni, S., Buzi, F.
|
|
<strong>McCune-Albright syndrome: a longitudinal clinical study of 32 patients.</strong>
|
|
J. Pediat. Endocr. Metab. 12: 817-826, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10614538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10614538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10614538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1515/jpem.1999.12.6.817" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Dent1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dent, C. E., Gertner, J. M.
|
|
<strong>Hypophosphataemic osteomalacia in fibrous dysplasia.</strong>
|
|
Quart. J. Med. 45: 411-420, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/948543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">948543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=948543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Di George1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Di George, A. M.
|
|
<strong>Albright syndrome: is it coming of age? (Editorial)</strong>
|
|
J. Pediat. 87: 1018-1020, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1185384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1185384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1185384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(75)80952-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Dohler1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dohler, J. R., Souter, W. A., Beggs, I., Smith, G. D.
|
|
<strong>Idiopathic hyperphosphatasia with dermal pigmentation: a twenty-year follow-up.</strong>
|
|
J. Bone Joint Surg. Br. 68: 305-310, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3007527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3007527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3007527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1302/0301-620X.68B2.3007527" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Endo1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Endo, M., Yamada, Y., Matsuura, N., Niikawa, N.
|
|
<strong>Monozygotic twins discordant for the major signs of McCune-Albright syndrome.</strong>
|
|
Am. J. Med. Genet. 41: 216-220, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1838461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1838461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1838461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320410217" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Falconer1942" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Falconer, M. A., Cope, C. L., Robb-Smith, A. H. T.
|
|
<strong>Fibrous dysplasia of bone with endocrine disorders and cutaneous pigmentation (Albright's disease).</strong>
|
|
Quart. J. Med. 11: 121-154, 1942.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Feuillan2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Feuillan, P., Calis, K., Hill, S., Shawker, T., Robey, P. G., Collins, M. T.
|
|
<strong>Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study.</strong>
|
|
J. Clin. Endocr. Metab. 92: 2100-2106, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17405850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17405850</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17405850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2006-2350" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Feuillan1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Feuillan, P. P., Foster, C. M., Pescovitz, O. H., Hench, K. D., Shawker, T., Dwyer, A., Malley, J. D., Barnes, K., Loriaux, D. L., Cutler, G. B., Jr.
|
|
<strong>Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone.</strong>
|
|
New Eng. J. Med. 315: 1115-1119, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3093862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3093862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3093862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198610303151802" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Feuillan1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Feuillan, P. P., Jones, J., Oerter, K. E., Manasco, P. K., Cutler, G. B., Jr.
|
|
<strong>Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome.</strong>
|
|
J. Clin. Endocr. Metab. 73: 1370-1373, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1955519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1955519</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1955519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem-73-6-1370" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Firat1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Firat, D., Stutzman, L.
|
|
<strong>Fibrous dysplasia of the bone: review of twenty-four cases.</strong>
|
|
Am. J. Med. 44: 421-429, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5644094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5644094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5644094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9343(68)90112-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Giovannelli1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Giovannelli, G., Bernasconi, S., Banchini, G.
|
|
<strong>McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma.</strong>
|
|
J. Pediat. 92: 220-226, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/340627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">340627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=340627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(78)80008-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Hall1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hall, R., Warrick, C.
|
|
<strong>Hypersecretion of hypothalamic releasing hormones: a possible explanation of the endocrine manifestations of polyostotic fibrous dysplasia (Albright's syndrome).</strong>
|
|
Lancet 299: 1313-1316, 1972. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4113403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4113403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4113403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(72)91038-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Hamilton1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamilton, C. R., Jr., Maloof, F.
|
|
<strong>Unusual types of hyperthyroidism.</strong>
|
|
Medicine 52: 195-213, 1973.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20407411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20407411</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20407411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00005792-197305000-00002" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Happle1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Happle, R.
|
|
<strong>The McCune-Albright syndrome: a lethal gene surviving by mosaicism.</strong>
|
|
Clin. Genet. 29: 321-324, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3720010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3720010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3720010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01261.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Hibbs1952" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hibbs, R. E., Rush, H. P.
|
|
<strong>Albright's syndrome.</strong>
|
|
Ann. Intern. Med. 37: 587-593, 1952.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12976957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12976957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12976957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.7326/0003-4819-37-3-587" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Kaplan1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaplan, F. S., Fallon, M. D., Boden, S. D., Schmidt, R., Senior, M., Haddad, J. G.
|
|
<strong>Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome).</strong>
|
|
New Eng. J. Med. 319: 421-425, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3398893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3398893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3398893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198808183190707" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Kirk1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kirk, J. M. W., Brain, C. E., Carson, D. J., Hyde, J. C., Grant, D. B.
|
|
<strong>Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.</strong>
|
|
J. Pediat. 134: 789-792, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10356155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10356155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10356155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(99)70302-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Kitoh1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kitoh, H., Yamada, Y., Nogami, H.
|
|
<strong>Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia.</strong>
|
|
J. Med. Genet. 36: 724-725, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Laven2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Laven, J. S. E., Lumbroso, S., Sultan, C., Fauser, B. C. J. M.
|
|
<strong>Dynamics of ovarian function in an adult woman with McCune-Albright syndrome.</strong>
|
|
J. Clin. Endocr. Metab. 86: 2625-2630, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11397863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11397863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11397863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.86.6.7595" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Laven2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Laven, J. S. E., Lumbroso, S., Sultan, C., Fauser, B. C. J. M.
|
|
<strong>Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome.</strong>
|
|
J. Clin. Endocr. Metab. 89: 1076-1078, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15001590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15001590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15001590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2003-031245" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Lemli1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lemli, L.
|
|
<strong>Fibrous dysplasia of bone: report of female monozygotic twins with and without the McCune-Albright syndrome.</strong>
|
|
J. Pediat. 91: 947-949, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/200724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">200724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=200724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(77)80898-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Lichtenstein1942" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lichtenstein, L., Jaffe, H. L.
|
|
<strong>Fibrous dysplasia of the bone: a condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities.</strong>
|
|
Arch. Path. 33: 777-816, 1942.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Lichtenstein1938" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lichtenstein, L.
|
|
<strong>Polyostotic fibrous dysplasia.</strong>
|
|
Arch. Surg. 36: 874-898, 1938.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Lumbroso2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lumbroso, S., Paris, F., Sultan, C.
|
|
<strong>Activating Gs-alpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European collaborative study.</strong>
|
|
J. Clin. Endocr. Metab. 89: 2107-2113, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15126527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15126527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15126527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2003-031225" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Majzoub1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Majzoub, J. A., Scully, R. E.
|
|
<strong>A six-year-old boy with multiple bone lesions, repeated fractures, and sexual precocity.</strong>
|
|
New Eng. J. Med. 328: 496-502, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8421479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8421479</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8421479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199302183280709" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Malchoff1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Malchoff, C. D., Reardon, G., MacGillivray, D. C., Yamase, H., Rogol, A. D., Malchoff, D. M.
|
|
<strong>An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion.</strong>
|
|
J. Clin. Endocr. Metab. 78: 803-806, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8126161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8126161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8126161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.78.3.8126161" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Mastorakos1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mastorakos, G., Mitsiades, N. S., Doufas, A. G., Koutras, D. A.
|
|
<strong>Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report.</strong>
|
|
Thyroid 7: 433-439, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9226216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9226216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9226216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1089/thy.1997.7.433" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="McArthur1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McArthur, R. G., Hayles, A. B., Lambert, P. W.
|
|
<strong>Albright's syndrome with rickets.</strong>
|
|
Mayo Clin. Proc. 54: 313-320, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/431133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">431133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=431133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="McCune1937" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McCune, D. J., Bruch, H.
|
|
<strong>Progress in pediatrics: osteodystrophia fibrosa.</strong>
|
|
Am. J. Dis. Child. 54: 806-848, 1937.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="McKusick1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1988.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Mieszczak2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mieszczak, J., Lowe, E. S., Plourde, P., Eugster, E. A.
|
|
<strong>The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome.</strong>
|
|
J. Clin. Endocr. Metab. 93: 2751-2754, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18397987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18397987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18397987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2007-2090" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Nager1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nager, G. T., Holliday, M. J.
|
|
<strong>Fibrous dysplasia of the temporal bone: update with case reports.</strong>
|
|
Ann. Otol. Rhinol. Laryng. 93: 630-633, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6508135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6508135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6508135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1177/000348948409300617" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Nager1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nager, G. T., Kennedy, D. W., Kopstein, E.
|
|
<strong>Fibrous dysplasia: a review of the disease and its manifestations in the temporal bone.</strong>
|
|
Ann. Otol. Rhinol. Laryng. Suppl. 91: 1-52, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6807182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6807182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6807182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Nakagawa1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nakagawa, H., Nagasaka, A., Sugiura, T., Nakagawa, K., Yabe, Y., Nihei, N., Hirooka, M., Itoh, M., Nakai, A., Ohyama, T., Aono, T., Gerich, J. E.
|
|
<strong>Gigantism associated with McCune-Albright's syndrome.</strong>
|
|
Horm. Metab. Res. 17: 522-527, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3934058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3934058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3934058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1055/s-2007-1013594" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Nerlich1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nerlich, A., Peschel, O., Lohrs, U., Parsche, F., Betz, P.
|
|
<strong>Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant. (Letter)</strong>
|
|
Lancet 338: 886-887, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1681239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1681239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1681239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0140-6736(91)91542-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Obuobie2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Obuobie, K., Mullik, V., Jones, C., John, R., Rees, A. E., Davies, J. S., Scanlon, M. F., Lazarus, J. H.
|
|
<strong>McCune-Albright syndrome: growth hormone dynamics in pregnancy.</strong>
|
|
J. Clin. Endocr. Metab. 86: 2456-2458, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11397839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11397839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11397839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.86.6.7609" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Olsen1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Olsen, B. R.
|
|
<strong>A rare disorder, yes; an unimportant one, never. (Editorial)</strong>
|
|
J. Clin. Invest. 101: 1545-1546, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9541481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9541481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9541481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI3441" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Plotkin2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Plotkin, H., Rauch, F., Zeitlin, L., Munns, C., Travers, R., Glorieux, F. H.
|
|
<strong>Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone.</strong>
|
|
J. Clin. Endocr. Metab. 88: 4569-4575, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2003-030050" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Premawardhana1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Premawardhana, L. D. K. E., Vora, J. P., Mills, R., Scanlon, M. F.
|
|
<strong>Acromegaly and its treatment in the McCune-Albright syndrome.</strong>
|
|
Clin. Endocr. 36: 605-608, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1424186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1424186</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1424186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1365-2265.1992.tb02272.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Reitzik1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reitzik, M., Lownie, J. F.
|
|
<strong>Familial polyostotic fibrous dysplasia.</strong>
|
|
Oral Surg. 40: 769-774, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1060033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1060033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1060033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0030-4220(75)90446-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Schwindinger1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwindinger, W. F., Francomano, C. A., Levine, M. A., McKusick, V. A.
|
|
<strong>DNA light on the Tegernsee giant. (Letter)</strong>
|
|
Lancet 338: 1454-1455, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1683435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0140-6736(91)92752-n" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Schwindinger1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwindinger, W. F., Francomano, C. A., Levine, M. A.
|
|
<strong>Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 5152-5156, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1594625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1594625</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1594625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.89.11.5152" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Shires1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shires, R., Whyte, M. P., Avioli, L. V.
|
|
<strong>Idiopathic hypothalamic hypogonadotropic hypogonadism with polyostotic fibrous dysplasia.</strong>
|
|
Arch. Intern. Med. 139: 1187-1189, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/485758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">485758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=485758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Taconis1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taconis, W. K.
|
|
<strong>Osteosarcoma in fibrous dysplasia.</strong>
|
|
Skeletal Radiol. 17: 163-170, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3163851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3163851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3163851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00351001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Tinschert1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tinschert, S., Gerl, H., Gewies, A., Jung, H.-P., Nurnberg, P.
|
|
<strong>McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.</strong>
|
|
Am. J. Med. Genet. 83: 100-108, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10190480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10190480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10190480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Viljoen1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Viljoen, D. L., Versfeld, G. A., Losken, W., Beighton, P.
|
|
<strong>Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?</strong>
|
|
Am. J. Med. Genet. 29: 661-667, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3377009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3377009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3377009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320290325" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="von Recklinghausen1891" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
von Recklinghausen, F. D.
|
|
<strong>Die Fibrose oder deformirende Ostitis, die Osteomalacie und die Osteoplastische Carcinose in ihren gegenseitigen Beziehungen. Festschrift f. Rudolf Virchow.</strong>
|
|
Berlin: Reimer 1891.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Weinstein1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weinstein, L. S., Shenker, A., Gejman, P. V., Merino, M. J., Friedman, E., Spiegel, A. M.
|
|
<strong>Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.</strong>
|
|
New Eng. J. Med. 325: 1688-1695, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1944469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1944469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1944469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199112123252403" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Wirth1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wirth, W. A., Leavitt, D., Enzinger, F. M.
|
|
<strong>Multiple intramuscular myxomas: another extraskeletal manifestation of fibrous dysplasia.</strong>
|
|
Cancer 27: 1167-1173, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5581510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5581510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5581510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1097-0142(197105)27:5<1167::aid-cncr2820270523>3.0.co;2-z" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Wrong1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wrong, O.
|
|
<strong>Tegernsee giant. (Letter)</strong>
|
|
Lancet 339: 194 only, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1346061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0140-6736(92)90275-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Yang1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yang, G. C. H., Yao, J. L., Feiner, H. D., Roses, D. F., Kumar, A., Mulder, J. E.
|
|
<strong>Lipid-rich follicular carcinoma of the thyroid in a patient with McCune-Albright syndrome.</strong>
|
|
Mod. Path. 12: 969-973, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10530562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10530562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10530562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Yoshimoto1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
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Yoshimoto, M., Nakayama, M., Baba, T., Uehara, Y., Niikawa, N., Ito, M., Tsuji, Y.
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<strong>A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism.</strong>
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Acta Paediat. Scand. 80: 984-987, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1755313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1755313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1755313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1991.tb11769.x" target="_blank">Full Text</a>]
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Zacharin, M., Bajpai, A., Chow, C. W., Catto-Smith, A., Stratakis, C., Wong, M. W., Scott, R.
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<strong>Gastrointestinal polyps in McCune Albright syndrome.</strong>
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J. Med. Genet. 48: 458-461, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21357941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21357941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21357941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2010.086330" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 8/9/2011
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John A. Phillips, III - updated : 12/20/2010<br>John A. Phillips, III - updated : 3/24/2008<br>Cassandra L. Kniffin - updated : 2/19/2008<br>John A. Phillips, III - updated : 8/20/2006<br>Marla J. F. O'Neill - updated : 9/2/2005<br>John A. Phillips, III - updated : 7/26/2005<br>John A. Phillips, III - updated : 7/14/2005<br>John A. Phillips, III - updated : 3/31/2005<br>John A. Phillips, III - updated : 4/8/2003<br>John A. Phillips, III - updated : 8/17/2001<br>John A. Phillips, III - updated : 7/20/2001<br>John A. Phillips, III - updated : 7/16/2001<br>Victor A. McKusick - updated : 4/11/2000<br>Ada Hamosh - updated : 2/10/2000<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 8/5/1999<br>Victor A. McKusick - updated : 5/18/1998
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Victor A. McKusick : 6/2/1986
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carol : 09/21/2022
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carol : 09/20/2022<br>carol : 09/19/2022<br>carol : 06/04/2022<br>carol : 10/14/2016<br>alopez : 08/17/2011<br>ckniffin : 8/9/2011<br>carol : 4/20/2011<br>terry : 1/13/2011<br>alopez : 12/20/2010<br>terry : 2/6/2009<br>carol : 12/19/2008<br>terry : 9/26/2008<br>carol : 3/24/2008<br>carol : 2/28/2008<br>carol : 2/28/2008<br>ckniffin : 2/19/2008<br>alopez : 8/20/2006<br>terry : 12/14/2005<br>wwang : 9/2/2005<br>alopez : 7/26/2005<br>alopez : 7/14/2005<br>alopez : 3/31/2005<br>tkritzer : 4/14/2003<br>terry : 4/8/2003<br>carol : 2/27/2003<br>cwells : 8/22/2001<br>cwells : 8/17/2001<br>cwells : 8/14/2001<br>cwells : 7/20/2001<br>cwells : 7/20/2001<br>mcapotos : 7/18/2001<br>mcapotos : 7/18/2001<br>mcapotos : 7/16/2001<br>mcapotos : 5/2/2000<br>terry : 4/11/2000<br>mcapotos : 4/6/2000<br>terry : 2/10/2000<br>carol : 2/10/2000<br>alopez : 12/16/1999<br>alopez : 12/16/1999<br>carol : 8/19/1999<br>jlewis : 8/19/1999<br>terry : 8/5/1999<br>carol : 2/23/1999<br>carol : 2/8/1999<br>terry : 2/2/1999<br>carol : 6/9/1998<br>terry : 5/18/1998<br>mark : 10/19/1997<br>mark : 6/11/1995<br>carol : 1/30/1995<br>pfoster : 9/7/1994<br>davew : 8/1/1994<br>terry : 5/16/1994<br>mimadm : 4/18/1994
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<strong>#</strong> 174800
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MCCUNE-ALBRIGHT SYNDROME; MAS
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ALBRIGHT SYNDROME
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Other entities represented in this entry:
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POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, INCLUDED
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<strong>SNOMEDCT:</strong> 36517007, 726029005;
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<strong>ICD10CM:</strong> Q78.1;
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<strong>ICD9CM:</strong> 756.54;
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<strong>ORPHA:</strong> 562;
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20q13.32
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McCune-Albright syndrome, somatic mosaic
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174800
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GNAS
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139320
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<p>A number sign (#) is used with this entry because McCune-Albright syndrome (MAS) is associated with early embryonic postzygotic somatic activating mutations in the GNAS1 gene (139320) on chromosome 20q13.</p>
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<p>Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome (MAS) are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (219080) (Lumbroso et al., 2004). </p>
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<p>McCune-Albright syndrome (MAS), also referred to simply as Albright syndrome, should not be confused with pseudohypoparathyroidism (PHP1A; 103580), which includes a constellation of features termed Albright hereditary osteodystrophy (AHO). The predominant features of MAS occur in 3 areas: the bony skeleton, the skin, and the endocrine system. In all 3 systems, the extent of the abnormality and, in the case of the endocrine system, the nature of the abnormality, are highly variable from case to case, depending on the specific tissues involved in the mosaicism and the extent of involvement.</p><p><strong><em>Skeletal</em></strong></p><p>
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No bone is spared. There is a strong tendency to asymmetry. Involvement of the skull and facial bones can be striking, and in the case of these bones also, asymmetry is the rule. Pathologic fracture or bone deformity may be presenting manifestations and pseudarthrosis occurs frequently. Deafness and blindness can result from impingement of the bony process on the cranial foramina. Shepherd's crook deformity of the proximal femur is particularly characteristic of the bony involvement. (The bone lesions of neurofibromatosis are usually less extensive than are those in polyostotic fibrous dysplasia, but may be difficult to distinguish on radiologic grounds alone.)</p><p>Hypophosphatemic osteomalacia ('rickets') has been observed in some cases of polyostotic fibrous dysplasia. Dent and Gertner (1976) suggested that this may represent a situation comparable to 'tumor rickets' which is associated with mesenchymal tumors and regresses when the tumor is removed. McArthur et al. (1979) described 4 patients with Albright syndrome, hypophosphatemia, and inappropriately low renal tubular reabsorption of phosphate. Three of the patients had radiologic evidence of rickets. They postulated that a substance elaborated by the dysplastic bone interfered with phosphate reabsorption in the renal tubule. </p><p>Kaplan et al. (1988) reported the case of a 31-year-old woman with this disorder in whom bone lesions progressed rapidly during pregnancy. A study of these lesions showed the presence of estrogen and progesterone receptors in osteogenic cells. Whether estrogen receptors are unique to the McCune-Albright syndrome or, alternatively, a property of any activated, dedifferentiated, or neoplastic bone cells is unclear. </p><p>Viljoen et al. (1988) described a severely affected man, aged about 30, with massive craniofacial hyperostosis. They raised the question of whether this represents the severe end of the scale for polyostotic fibrous dysplasia, or whether it is a distinct entity. It seems likely that this was a severe expression of polyostotic fibrous dysplasia (McCune-Albright syndrome). McKusick (1988) studied a patient with severe craniofacial hyperostosis who had other, more characteristic features of polyostotic fibrous dysplasia, including cafe-au-lait pigmentation, which was absent in the case of Viljoen et al. (1988); this patient was later found by Schwindinger et al. (1992) to have a mutation in the GNAS1 gene (139320.0009). There are other definite cases of patients with severe craniofacial involvement (Nager et al., 1982; Nager and Holliday, 1984). Such is also evident from inspection of the descriptions in the classic monograph of Albright and Reifenstein (1948). For example, they produced a picture (their Figure 145) of a skeleton thought by von Recklinghausen (1891) to represent hyperparathyroidism (osteitis fibrosa generalisata of von Recklinghausen). That this was severe Albright polyostotic fibrous dysplasia was suggested by the shepherd's crook deformity of the femora and the asymmetric bulge of the occipital area of the skull. Taconis (1988) reported 2 cases of osteosarcomatous transformation, 1 in the skull of a 25-year-old man and 1 in the iliac bone of a 38-year-old man. </p><p>Taconis (1988) stated that the incidence of malignancy of the bone lesions may be lower than previously suggested. Malignant transformation occurs in both monostotic and polyostotic disease but is more common in the latter form. Although radiation therapy is often an inciting cause, this was not the case in either of these patients, who had received no radiation therapy. </p><p>Candeliere et al. (1995) reported a 7-year-old boy with McCune-Albright syndrome in whom they identified high levels of expression of the FOS (164810) oncogene in bone lesions. Increased expression of the FOS oncogene was presumably a consequence of increased adenylate cyclase activity and may have been important in the pathogenesis of the bone lesions. Genetic analysis identified the R201H mutation in the GNAS1 gene (139320.0013). </p><p><strong><em>Skin</em></strong></p><p>
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The involvement of the skin consists predominantly of large cafe-au-lait spots with irregular margins, giving them a 'coast of Maine' configuration as opposed to the more regularly outlined 'coast of California' cafe-au-lait spots of neurofibromatosis (162200). Like the bony lesions, the pigmentary lesions of the skin may be limited predominantly to one side and stop sharply at the midline. The nape of the neck is a commonly involved site. (The cafe-au-lait spots of neurofibromatosis are for the most part smaller, more regular, and more uniformly distributed, and are accompanied by axillary freckling and usually by skin tumors.)</p><p><strong><em>Endocrine</em></strong></p><p>
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The leading endocrinologic feature is precocious puberty, which occurs in over half of female cases. Menstruation may occur in the first months of life. Precocious puberty has been reported also in males with this syndrome; testicular biopsy has revealed the full process of spermatogenesis with mature sperm in patients as young as 6 years (Benedict, 1966; Giovannelli et al., 1978). Probably the second most common endocrinopathy is hyperthyroidism (Lichtenstein and Jaffe, 1942; Hamilton and Maloof, 1973). Excessive secretion of growth hormone (GH1; 139250) with gigantism, hyperadrenocorticism with Cushing syndrome, and gynecomastia have been observed. In specific instances, it has been demonstrated that the Cushing syndrome is due to multinodular change in the adrenals and the hyperthyroidism to multinodular toxic goiter (Hamilton and Maloof, 1973). </p><p>Falconer et al. (1942) reported pituitary gigantism in association with McCune-Albright syndrome. Wrong (1992) stated that he saw this patient, a boy born in Nottingham in 1930, in 1954; the patient was still alive, though severely disabled by bone disease, in the late 1960s at the age of almost 40. Premawardhana et al. (1992) described a 26-year-old woman with acromegaly due to a pituitary adenoma who developed secondary hypothyroidism and hypoadrenalism, in a setting of McCune-Albright syndrome. Cremonini et al. (1992) described acromegaly and hyperprolactinemia due to pituitary adenoma in a 35-year-old woman with McCune-Albright syndrome. </p><p>Malchoff et al. (1994) reported a 27-year-old woman with McCune-Albright syndrome who had an unusual clinical course. She presented at the age of 3 years with vaginal bleeding, had breast development at age 4 years, and had a second episode of vaginal bleeding at age 5 years 7 months. She had no pigmentary skin lesions, and 2 sets of radiographs of the chest, pelvis, skull, and long bones were normal. She was treated for 24 months with medroxyprogesterone acetate, and precocity resolved. She progressed normally through puberty, starting at age 10 years, and had normal menses, starting at age 12 years. At age 25 years, she delivered a normal daughter. A chest x-ray at age 27 years after minor trauma identified a single lesion of fibrous dysplasia in the left seventh rib. Radiographs of other bones were normal. Studies of the GNAS1 gene showed an R201H mutation. </p><p>Tinschert et al. (1999) reported a 37-year-old man with McCune-Albright syndrome causing gigantism and fibrous dysplasia with hypersecretion of growth hormone and prolactin (176760), with no evidence of pituitary tumor. The patient had an R201H mutation which ranged from 0% in buccal mucosa, blood, and skin melanocytes to 45% in a frozen section of the middle nasal concha. </p><p>Coutant et al. (2001) reported a 3.8-year-old boy with McCune-Albright syndrome associated with abnormal prepubertal testis enlargement and no sexual precocity. Other endocrine tests showed excessive GH secretion and moderate adrenal androgen hypersecretion. These findings were consistent with the occurrence of an activating mutation of the GNAS1 gene mainly expressed in Sertoli cells and weakly expressed or absent in Leydig cells. Abnormal prepubertal testicular enlargement extends the clinical spectrum of MAS, suggesting that determination of serum inhibin B (see 147290) and anti-mullerian hormone (600957) should be considered in boys with this syndrome. DNA sequence analysis from bone and testis tissues detected the R201H mutation. </p><p>Akintoye et al. (2002) estimated the prevalence of GH excess in MAS, characterized the clinical and endocrine manifestations, and described the response to treatment. Twelve patients (21%) had GH excess, based on failure to suppress serum GH on oral glucose tolerance test. Vision and hearing deficits were more common in patients with GH excess (33%) than in those without (4%). Patients with a history of precocious puberty and GH excess who had reached skeletal maturity achieved normal adult height despite a history of early epiphyseal fusion. All 9 patients tested had an increase in serum GH after TRH (613879), 11 of 12 (92%) had hyperprolactinemia, and all 8 tested had detectable or elevated nighttime GH levels. Pituitary adenoma was detected in 4 of 12 (33%) patients. GH excess is common in MAS and results in a distinct clinical phenotype characterized by inappropriately normal stature, TRH responsiveness, prolactin (176760) cosecretion, small or absent pituitary tumors, a consistent but inadequate response to treatment with cabergoline, and an intermediate response to long-acting octreotide. </p><p>Laven et al. (2001) presented the first longitudinal assessment of ovarian dysfunction in an adult patient with McCune-Albright syndrome. Their report provided evidence for persistent autonomous unilateral ovarian dysfunction during early adulthood in McCune-Albright syndrome not compatible with normal fertility. Laven et al. (2004) presented a case of an adult MAS patient with persistent unilateral autonomous ovarian activity whose ovarian and endometrial function was restored by removal of the affected ovary. </p><p>Obuobie et al. (2001) studied the GH and insulin-like growth hormone I (IGF1; 147440) profiles in a patient with confirmed McCune-Albright syndrome and GH hypersecretion throughout a successful pregnancy and postpartum period. Prepregnancy, the IGF I level was 60.6 nmol/L (normal, 18.0-43.1) and the daytime GH profile measured using assay A was 9.6-14.0 mU/L. At 13 weeks' gestation there was a decline of IGF I to 33.9 nmol/L and in the daytime GH profile (assay A) to 5.4-6.8 mU/L. At 24 weeks, IGF I had risen to 51.6 nmol/L. At 36 weeks, IGF I was still elevated at 56.6 nmol/L, with a daytime GH profile of 16.6-17.7 mU/L using assay A. At 12 weeks postpartum, the daytime GH profile with assay B was 5.6-8.6 mU/L. The authors concluded that GH suppression during pregnancy in acromegaly associated with McCune-Albright syndrome is best shown with assay B, which discriminates between GH and human placental lactogen (HPL; 150200). They also stated that GH secretion in a pregnant acromegalic with the McCune-Albright syndrome may not be entirely autonomous, as seen in classic acromegaly, but may be associated with a degree of negative feedback control that could be exerted by a circulating factor of placental origin, probably HPL or placental GH (GH2; 139240). </p><p>Di George (1975) reviewed unusual features of the syndrome and the evidence that the endocrinopathy represents autonomous function of the endocrine glands. Two main hypotheses had been stated: (1) excessive secretion of the hypothalamic releasing hormones is involved in the endocrinopathy of this disorder (Hall and Warrick, 1972); and (2) this disorder represents multiple, circumscribed embryonic alterations in a variety of tissues resulting from clones of cells characterized by autonomous behavior, and perhaps aberrant behavior, toward otherwise normal stimuli. The latter hypothesis appeared to be the more compatible with the skeletal, cutaneous, and endocrinologic features and with the mosaic hypothesis of Happle (1986); its validity was proved by demonstration of mosaicism for mutations in the GNAS1 gene. </p><p>Majzoub and Scully (1993) described a 6-year-old boy who had apocrine sweat, facial acne, Tanner stage 2 pubic hair, and midpubertal-sized testes and penis, all indicative of precocious puberty, in association with osseous changes of this disorder. </p><p>A patient, aged 50 years, with McCune-Albright syndrome had a large syrinx (syringomyelia) causing neurologic manifestations in the arms and legs (McKusick, 1988). Because of a linear midline pigmentation in the high cervical area posteriorly, in the same area of the syrinx, the possibility can be raised that the syrinx, which extended from C2 to T11, was a primary manifestation of the syndrome. The patient also had extensive involvement of the base of the skull with Arnold-Chiari syndrome (i.e., extension of cerebellar tissue through the foramen magnum). He had had hyperthyroidism, as reported by Hamilton and Maloof (1973). (The same patient had severe craniofacial hyperostosis and was demonstrably mosaic for a specific GNAS1 mutation, i.e., arg201-to-his (139320.0009).) </p><p>Abs et al. (1990) described a case of atypical McCune-Albright syndrome; a 36-year-old woman had acromegaly due to a pituitary adenoma, a toxic multinodular goiter that was associated with spontaneous normalization of thyroid function, and asymptomatic polyostotic fibrous dysplasia. There was no skin pigmentation and no sexual precocity. See 139320.0009 for discussion of the molecular basis of the association of pituitary tumor with McCune-Albright syndrome. Chanson et al. (1994) reported 5 patients with McCune-Albright syndrome and acromegaly. In all, acromegaly began before the age of 20 years and was recognized after the diagnosis of fibrous dysplasia, which was polyostotic in 3 and monostotic in 2. Bone fibrous dysplasia always involved the base of the skull and in 4 patients prevented surgical removal of the pituitary adenoma, which was visualized easily by MRI. </p><p>Yoshimoto et al. (1991) described the extraordinary case of a female infant who at birth had cutaneous pigmentation, hyperthyroidism, and Cushing syndrome. </p><p>Mastorakos et al. (1997) described a 6-year-old girl with MAS and hyperthyroidism and reviewed the previously reported 63 patients with MAS and thyroid disorders. </p><p>Kirk et al. (1999) presented 5 children (4 girls) with features of McCune-Albright syndrome who had Cushing syndrome in the infantile period (under 6 months of age). In 2 children, spontaneous resolution occurred, but the remaining 3 required bilateral adrenalectomy. In addition, all 4 girls experienced precocious puberty, and 3 children demonstrated radiologic evidence of nephrocalcinosis. In 1 patient, laparotomy, performed at 7 weeks of age because of vomiting and abdominal distention, revealed multiloculated ovarian cysts. Bilateral adrenalectomy was performed at 3 months for nodular hyperplasia. Irregular vaginal bleeding in association with breast development occurred by 11 months of age. Thyrotoxicosis subsequently developed, and the patient had a number of pathologic fractures of both femurs through polyostotic lesions and had marked spinal deformity. Kirk et al. (1999) postulated that the hypercalcemia and hypercalciuria leading to renal stones are secondary to the effects of cortisol on bone turnover. </p><p>Yang et al. (1999) reported a case of thyroid cancer in McCune-Albright syndrome. Collins et al. (2003) reported a second case and reviewed both cases, extending the phenotypic spectrum of the disorder. </p><p><strong><em>Phenotypic Variation</em></strong></p><p>
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Cole et al. (1983) reported the case of a French-Canadian boy, of nonconsanguineous parents, who had unusual facial appearance (depressed nasal bridge, synophrys, and forehead hirsutism), 'coast of Maine' pigmented patches, myelofibrosis, recurrent femoral fractures and widespread fibrous dysplasia of bone leading to the suggested designation 'panostotic fibrous dysplasia.' Biochemical findings included elevated serum alkaline phosphatase (bone isozyme) and 1,25-(OH)2 vitamin D and low serum phosphorus levels. Increased turnover of bone was indicated by urinary excretion rates of hydroxyproline, glycylproline, and gamma-carboxyglutamic acid. Progressive cortical thinning and loss of bony trabeculae were demonstrated by serial x-rays and supported by bone biopsy. No precisely similar case was known. Candeliere et al. (1995) demonstrated that this patient, then a 14-year-old boy, had an arg201-to-cys mutation in the GNAS1 gene (139320.0008). Thus, this was an unusually severe form of McCune-Albright syndrome not fundamentally different from that disorder or perhaps from monostotic fibrous dysplasia. Cole (1996) pointed out that the patient with 'idiopathic hyperphosphatasia with dermal pigmentation' reported by Dohler et al. (1986) appears to have had the same disorder as the patient reported by Cole et al. (1983). </p><p>De Sanctis et al. (1999) reported the diagnostic clinical features and their long-term evolution in 32 patients with McCune-Albright syndrome. Almost all patients had skin changes at birth. There was a 50% probability of bone dysplasia at 8 years of age and a 50% probability of precocious puberty in females at 4 years. </p><p>Coutant et al. (2001) reported a 3.8-year-old boy with McCune-Albright syndrome associated with abnormal prepubertal testis enlargement and no sexual precocity. Physical examination showed cafe-au-lait skin lesions, enlarged testes, prepubertal sized penis, and no pubic or axillary hair. Skeletal radiography disclosed fibrous dysplasia. The serum testosterone level was 0.58 nmol/L and remained below 1.4 nmol/L during the 4-year follow-up. By contrast, serum inhibin B (see 147290) and anti-mullerian hormone (600957) concentrations were abnormally increased up to 255 pg/mL (childhood range, 35-180) and 792 pmol/L (childhood range, 309-566), respectively. The luteinizing hormone (LH; 152780) response to a gonadotropin-releasing hormone (GnRH; 152760) test was in the prepubertal range, whereas the follicle-stimulating hormone (FSH; 136530) response was blunted. This abnormal hormone concentration profile indicated autonomous hyperfunction of Sertoli cells, with no evidence of Leydig cell activation. Testicular histology showed tubules with marked Sertoli cell hyperplasia and very rare germinal cells, and interstitial tissue containing mesenchymal cells but no mature Leydig cells. DNA sequence analysis from bone and testis tissues detected the known activating mutation in MAS that results in the arg201-to-his mutation in the GNAS1 protein (139320.0009). </p>
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<span class="mim-font">
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<strong>Other Features</strong>
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<p>Zacharin et al. (2011) reported 4 unrelated patients with MAS who had multiple hamartomatous gastrointestinal polyps in the stomach and/or duodenum. Two of the patients were noted to have perioral freckling in their early teens, reminiscent of Peutz-Jeghers syndrome (PJS; 175200) and were thus examined endoscopically. The polyps showed a branching pattern with prominent cores of smooth muscle covered by well-differentiated epithelium. Molecular analysis of peripheral blood identified activating mutations in the GNAS gene in 3 of the 4 patients; none of the patients had STK11 (602216) mutations. Molecular analysis of the gastrointestinal polyps showed no GNAS mutation in 1 patient, LOH of the GNAS locus in 1 patient, the same GNAS mutation as found in peripheral blood in 1 patient, and heterozygosity for a GNAS activating mutation only in the polyp in the patient without a mutation in peripheral blood. Zacharin et al. (2011) concluded that patients with MAS should undergo routine endoscopy, as gastrointestinal polyps may be a common manifestation of the disorder. </p>
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<strong>Inheritance</strong>
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<p>Few convincing instances of familial occurrence of POFD have been reported. Hibbs and Rush (1952) reported the case of a 50-year-old woman with typical skin pigmentation and involvement of multiple bones. The daughter had no skin pigmentation (which is absent in some cases) but had a pathologic fracture of the left radius and radiologic and histologic changes interpreted as those of fibrous dysplasia. Firat and Stutzman (1968) described hyperthyroidism in 1 patient who also had pituitary gigantism and hyperparathyroidism in 2 others. The last 2 cases were mother and daughter. The fibrous dysplasia was limited to the jaw. </p><p>Reitzik and Lownie (1975) described a family in which many members had craniofacial POFD in an autosomal dominant pedigree pattern. This may have represented, however, an entity distinct from MAS. Alvarez-Arratia et al. (1983) presented a family that had several members in at least 3 generations with the bony and cutaneous lesions of polyostotic fibrous dysplasia. </p><p>Happle (1986) made the intriguing suggestion that this disorder is caused by an autosomal dominant lethal gene that is compatible with viability of the conceptus only when it occurs in the mosaic state, having arisen by somatic mutation. Endo et al. (1991) described monozygotic twin girls of whom one showed major signs of MAS: precocious puberty, cafe-au-lait nevi, and polyostotic fibrous dysplasia. The lack of fully convincing familial cases, except for the occurrence in monozygotic twins (Lemli, 1977), is consistent with the Happle hypothesis. (In the twins reported by Lemli (1977), one had classic signs of McCune-Albright syndrome and the other had only radiologic signs of bone disease and elevated serum alkaline phosphatase.) The frequency of the disorder is about equal in males and females. </p><p>Feuillan et al. (1991) reported the cases of 2 girls with precocious puberty initially diagnosed at the ages of 1 and 4 years. Both were unresponsive to treatment with the LHRH (luteinizing hormone-releasing hormone; 152760) agonist deslorelin for 5 years. In this respect they resembled patients with the McCune-Albright syndrome, but they had none of the other manifestations of MAS. Feuillan et al. (1991) suggested that although the underlying defect was absent in bone and skin, it was expressed in the ovaries of the 2 girls. This suggestion is consistent with the view that the McCune-Albright syndrome is a somatic mutation disorder. </p>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<p>Plotkin et al. (2003) investigated the effects of intravenous pamidronate treatment in 18 children and adolescents with polyostotic fibrous dysplasia who were treated for 1.2 to 9.1 years. Although not quantitatively examined, pamidronate appeared to be effective in reducing bone pain. However, there was no radiographic evidence of filling of lytic lesions or thickening of the bone cortex surrounding the lesions in any patient. </p><p>Feuillan et al. (2007) studied the effectiveness of the aromatase inhibitor letrozole in decreasing pubertal progression in girls with MAS and assessed the response of indices of bone turnover associated with the patients' polyostotic fibrous dysplasia. Girls had decreased rates of growth (p less than 0.01) and bone age advance (p less than 0.004) and cessation or slowing in their rates of bleeding over 12 to 36 months of therapy. Mean ovarian volume, estradiol, and indices of bone metabolism fell after 6 months (p less than 0.05) but tended to rise by 24 to 36 months. Feuillan et al. (2007) concluded that letrozole may be effective therapy in some girls with MAS and/or gonadotropin-independent precocious puberty. Possible adverse effects include ovarian enlargement and cyst formation. </p><p>Mieszczak et al. (2008) determined the safety and efficacy of the aromatase inhibitor anastrozole for the treatment of precocious puberty in girls with McCune-Albright syndrome. Although it appeared safe, anastrozole for 1 year was ineffective in halting vaginal bleeding and attenuating rates of skeletal maturation and linear growth in girls with McCune-Albright syndrome. The authors concluded that pharmacologic strategies other than anastrozole should be pursued for the treatment of precocious puberty in this population. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>The mystery of the etiology and pathogenesis of polyostotic fibrous dysplasia appears to have been solved by the identification of activating mutations in the GNAS1 gene (139320) which render the gene functionally constitutive (Weinstein et al., 1991; Schwindinger et al., 1992). Similar mutations leading to constitutive activation of this gene had been identified in some human growth hormone secreting pituitary tumors and human thyroid tumors. Furthermore, the demonstration of the mutation in peripheral blood leukocytes but not in DNA from biopsies of clinically normal skin supports the proposal of Happle (1986) that this is a disorder of mosaicism resulting from postzygotic somatic cell mutation. </p><p>Kitoh et al. (1999) found a mutation in GNAS1 in endosteal, but not in periosteal, cells taken from a cystic lesion of the humerus of an 11-year-old boy with polyostotic fibrous dysplasia. </p><p>Bianco et al. (1998) isolated progenitor cells from the stromal system of the bone marrow involved in fibrous dysplasia in patients with McCune-Albright syndrome and analyzed these cells in culture. Analysis of the GNAS1 gene from individual colonies provided direct evidence for the presence of 2 different genotypes within single fibrous dysplastic lesions: marrow stromal cells containing 2 normal GNAS1 alleles, and those containing a normal allele and an allele with an activating mutation. Transplantation of clonal populations of normal cells into the subcutis of immunocompromised mice resulted in normal ossicle formation. In contrast, transplantation of clonal populations of mutant cells always led to the loss of transplanted cells from the transplantation site and no ossicle formation. However, transplantation of a mixture of normal and mutant cells reproduced an abnormal ectopic ossicle recapitulating human fibrous dysplasia and providing an in vivo cellular model of this disease. The results provided experimental evidence for the need of both normal and mutant cells in the development of McCune-Albright syndrome fibrous dysplastic lesions in bone. This study confirmed the hypothesis of Happle (1986). It also confirmed the editorial comment of Di George (1975) concluding with the remark that MAS is 'a rare disorder, yes; an unimportant one, never' (Olsen, 1998). </p><p>Bianco et al. (2000) analyzed a series of 8 consecutive cases of isolated fibrous dysplasia without the classic features of McCune-Albright syndrome and identified arg201 mutations in the GNAS1 gene in all of them. Histologic findings in these cases were not distinguishable from those observed in MAS-related fibrous dysplasia and included subtle changes in cell shape and collagen texture putatively ascribed to excess endogenous cAMP. Unmineralized osteoid changes characteristic of osteomalacia were prominent in lesional fibrous dysplasia. Bianco et al. (2000) concluded that the findings support the view that fibrous dysplasia, MAS, and nonskeletal isolated endocrine lesions associated with GNAS1 mutations represent a spectrum of phenotypic expressions, probably reflecting different patterns of somatic mosaicism, of the same basic disorder. </p><p>Akintoye et al. (2002) noted that the molecular etiology of MAS is postzygotic activating mutations of the GNAS1 gene product, the alpha subunit of the Gs protein. The term 'GSP oncogene' has been assigned to these mutations due to their association with certain neoplasms. </p><p>Collins et al. (2003) performed molecular analysis of thyroid carcinomas from 2 McCune-Albright syndrome patients and demonstrated that foci of malignancy and adjacent areas of hyperplasia and, in 1 case, some areas of normal thyroid harbored an activating mutation of GNAS1 at the arg201 codon (139320.0008 and 139320.0009, respectively). The authors concluded that these 2 cases of thyroid carcinoma in MAS supported the hypothesis that activation of the G(s) signaling cascade alone is insufficient for malignant transformation of thyroid or other endocrine cells. </p><p>Using a PCR-based sensitive method, Lumbroso et al. (2004) reported a systematic search for Gs-alpha arg201 mutations in patients presenting with at least 1 of the signs of MAS. They studied 113 patients (98 girls and 15 boys), 24% presenting the classic triad, 33% with 2 signs, and 40% with only 1 classic sign. Overall, mutation of the arg201 codon was identified in 43% of the patients. When an affected tissue was available, the mutation was found in more than 90% of the patients, whatever the number of signs. Skin was a noteworthy exception because only 3 of 11 skin samples were positive. The mutation was detected in 46% of blood samples in patients presenting the classic triad, whereas this figure fell to 21% and 8% in patients with 2 and 1 sign, respectively. The authors concluded that affections as clinically different as monostotic fibrous dysplasia, isolated peripheral precocious puberty, neonatal liver cholestasis, and the classic MAS all appear to be components of a wide spectrum of diseases based on the same molecular defect. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>This disorder was first described by McCune and Bruch (1937) and Albright et al. (1937, 1938). Affected persons came to the attention of Fuller Albright because of the similarity of the skeletal changes to those of osteitis fibrosa cystica resulting from hyperparathyroidism (Axelrod, 1970). Lichtenstein (1938) introduced the designation 'polyostotic fibrous dysplasia' for the skeletal aspect of the syndrome. </p><p>Nerlich et al. (1991) suggested that Thomas Hasler, the 'Tegernsee giant,' had a combination of juvenile gigantism and polyostotic fibrous dysplasia. It would not be surprising if the two occurred together in light of the fact that the same somatic mutation is found in PFD and in growth hormone-secreting tumors of the pituitary (see 102200) (Schwindinger et al., 1991). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Comite et al. (1984); Feuillan et al. (1986); Nakagawa et al. (1985);
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Shires et al. (1979); Wirth et al. (1971)
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Abs, R., Beckers, A., Van de Vyver, F. L., De Schepper, A., Stevenaert, A., Hennen, G.
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<strong>Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia: a variant of the McCune-Albright syndrome.</strong>
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J. Endocr. Invest. 13: 671-675, 1990.
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[PubMed: 2273209]
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[Full Text: https://doi.org/10.1007/BF03349592]
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</li>
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<li>
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<p class="mim-text-font">
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Akintoye, S. O., Chebli, C., Booher, S., Feuillan, P., Kushner, H., Leroith, D., Cherman, N., Bianco, P., Wientroub, S., Robey, P. G., Collins, M. T.
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<strong>Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome.</strong>
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J. Clin. Endocr. Metab. 87: 5104-5112, 2002.
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[PubMed: 12414879]
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[Full Text: https://doi.org/10.1210/jc.2001-012022]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Albright, F., Butler, A. M., Hampton, A. O., Smith, P.
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<strong>Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases.</strong>
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New Eng. J. Med. 216: 727-746, 1937.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Albright, F., Reifenstein, E. C., Jr.
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<strong>The Parathyroid Glands and Metabolic Bone Disease: Selected Studies.</strong>
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Baltimore: Williams and Wilkins (pub.) 1948.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Albright, F., Scoville, B., Sulkowitch, H. W.
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<strong>Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation, and a gonadal dysfunction: further observations including the report of two more cases.</strong>
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Endocrinology 22: 411-421, 1938.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Alvarez-Arratia, M. C., Rivas, F., Avila-Abundis, A., Hernandez, A., Nazara, Z., Lopez, C., Castillo, A., Cantu, J. M.
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<strong>A probable monogenic form of polyostotic fibrous dysplasia.</strong>
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Clin. Genet. 24: 132-139, 1983.
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[PubMed: 6577994]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb02224.x]
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|
|
<p class="mim-text-font">
|
|
Axelrod, L.
|
|
<strong>Bones, stones and hormones: the contributions of Fuller Albright.</strong>
|
|
New Eng. J. Med. 283: 964-970, 1970.
|
|
|
|
|
|
[PubMed: 4919084]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197010292831805]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benedict, P. H.
|
|
<strong>Sex precocity and polyostotic fibrous dysplasia: report of a case in a boy with testicular biopsy.</strong>
|
|
Am. J. Dis. Child. 111: 426-429, 1966.
|
|
|
|
|
|
[PubMed: 5906056]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archpedi.1966.02090070124020]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bianco, P., Kuznetsov, S. A., Riminucci, M., Fisher, L. W., Spiegel, A. M., Robey, P. G.
|
|
<strong>Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gs-alpha-mutated skeletal progenitor cells.</strong>
|
|
J. Clin. Invest. 101: 1737-1744, 1998.
|
|
|
|
|
|
[PubMed: 9541505]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI2361]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bianco, P., Riminucci, M., Majolagbe, A., Kuznetsov, S. A., Collins, M. T., Mankani, M. H., Corsi, A., Bone, H. G., Wientroub, S., Spiegel, A. M., Fisher, L. W., Robey, P. G.
|
|
<strong>Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.</strong>
|
|
J. Bone Miner. Res. 15: 120-128, 2000.
|
|
|
|
|
|
[PubMed: 10646121]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1359/jbmr.2000.15.1.120]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Candeliere, G. A., Glorieux, F. H., Prud'Homme, J., St.-Arnaud, R.
|
|
<strong>Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia.</strong>
|
|
New Eng. J. Med. 332: 1546-1551, 1995.
|
|
|
|
|
|
[PubMed: 7739708]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199506083322304]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chanson, P., Dib, A., Visot, A., Derome, P. J.
|
|
<strong>McCune-Albright syndrome and acromegaly: clinical studies and responses to treatment in five cases.</strong>
|
|
Europ. J. Endocr. 131: 229-234, 1994.
|
|
|
|
|
|
[PubMed: 7921205]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1530/eje.0.1310229]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cole, D. E. C., Fraser, F. C., Glorieux, F. H., Jequier, S., Marie, P. J., Reade, T. M., Scriver, C. R.
|
|
<strong>Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia.</strong>
|
|
Am. J. Med. Genet. 14: 725-735, 1983.
|
|
|
|
|
|
[PubMed: 6846403]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320140414]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cole, D. E. C.
|
|
<strong>Personal Communication.</strong>
|
|
Toronto, Canada 2/17/1996.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Collins, M. T., Sarlis, N. J., Merino, M. J., Monroe, J., Crawford, S. E., Krakoff, J. A., Guthrie, L. C., Bonat, S., Robey, P. G., Shenker, A.
|
|
<strong>Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating G(s)-alpha mutations.</strong>
|
|
J. Clin. Endocr. Metab. 88: 4413-4417, 2003.
|
|
|
|
|
|
[PubMed: 12970318]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2002-021642]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Comite, F., Shawker, T. H., Pescovitz, O. H., Loriaux, D. L., Cutler, G. B., Jr.
|
|
<strong>Cyclical ovarian function resistant to treatment with an analogue of luteinizing hormone releasing hormone in McCune-Albright syndrome.</strong>
|
|
New Eng. J. Med. 311: 1032-1036, 1984.
|
|
|
|
|
|
[PubMed: 6434946]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198410183111607]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Coutant, R., Lumbroso, S., Rey, R., Lahlou, N., Venara, M., Rouleau, S., Sultan, C., Limal, J.-M.
|
|
<strong>Macroorchidism due to autonomous hyperfunction of Sertoli cells and GS-alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy.</strong>
|
|
J. Clin. Endocr. Metab. 86: 1778-1781, 2001.
|
|
|
|
|
|
[PubMed: 11297617]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.86.4.7391]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cremonini, N., Graziano, E., Chiarini, V., Sforza, A., Zampa, G. A.
|
|
<strong>Atypical McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma: natural history, long-term follow-up, and SMS 201-995--bromocriptine combined treatment results.</strong>
|
|
J. Clin. Endocr. Metab. 75: 1166-1169, 1992.
|
|
|
|
|
|
[PubMed: 1400888]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.75.4.1400888]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Sanctis, C., Lala, R., Matarazzo, P., Balsamo, A., Bergamaschi, R., Cappa, M., Cisternino, M., de Sanctis, V., Lucci, M., Franzese, A., Ghizzoni, L., Pasquino, A. M., Segni, M., Rigon, F., Saggese, G., Bertelloni, S., Buzi, F.
|
|
<strong>McCune-Albright syndrome: a longitudinal clinical study of 32 patients.</strong>
|
|
J. Pediat. Endocr. Metab. 12: 817-826, 1999.
|
|
|
|
|
|
[PubMed: 10614538]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1515/jpem.1999.12.6.817]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dent, C. E., Gertner, J. M.
|
|
<strong>Hypophosphataemic osteomalacia in fibrous dysplasia.</strong>
|
|
Quart. J. Med. 45: 411-420, 1976.
|
|
|
|
|
|
[PubMed: 948543]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Di George, A. M.
|
|
<strong>Albright syndrome: is it coming of age? (Editorial)</strong>
|
|
J. Pediat. 87: 1018-1020, 1975.
|
|
|
|
|
|
[PubMed: 1185384]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(75)80952-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dohler, J. R., Souter, W. A., Beggs, I., Smith, G. D.
|
|
<strong>Idiopathic hyperphosphatasia with dermal pigmentation: a twenty-year follow-up.</strong>
|
|
J. Bone Joint Surg. Br. 68: 305-310, 1986.
|
|
|
|
|
|
[PubMed: 3007527]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1302/0301-620X.68B2.3007527]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Endo, M., Yamada, Y., Matsuura, N., Niikawa, N.
|
|
<strong>Monozygotic twins discordant for the major signs of McCune-Albright syndrome.</strong>
|
|
Am. J. Med. Genet. 41: 216-220, 1991.
|
|
|
|
|
|
[PubMed: 1838461]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320410217]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Falconer, M. A., Cope, C. L., Robb-Smith, A. H. T.
|
|
<strong>Fibrous dysplasia of bone with endocrine disorders and cutaneous pigmentation (Albright's disease).</strong>
|
|
Quart. J. Med. 11: 121-154, 1942.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Feuillan, P., Calis, K., Hill, S., Shawker, T., Robey, P. G., Collins, M. T.
|
|
<strong>Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study.</strong>
|
|
J. Clin. Endocr. Metab. 92: 2100-2106, 2007.
|
|
|
|
|
|
[PubMed: 17405850]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2006-2350]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Feuillan, P. P., Foster, C. M., Pescovitz, O. H., Hench, K. D., Shawker, T., Dwyer, A., Malley, J. D., Barnes, K., Loriaux, D. L., Cutler, G. B., Jr.
|
|
<strong>Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone.</strong>
|
|
New Eng. J. Med. 315: 1115-1119, 1986.
|
|
|
|
|
|
[PubMed: 3093862]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198610303151802]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Feuillan, P. P., Jones, J., Oerter, K. E., Manasco, P. K., Cutler, G. B., Jr.
|
|
<strong>Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome.</strong>
|
|
J. Clin. Endocr. Metab. 73: 1370-1373, 1991.
|
|
|
|
|
|
[PubMed: 1955519]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem-73-6-1370]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Firat, D., Stutzman, L.
|
|
<strong>Fibrous dysplasia of the bone: review of twenty-four cases.</strong>
|
|
Am. J. Med. 44: 421-429, 1968.
|
|
|
|
|
|
[PubMed: 5644094]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(68)90112-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Giovannelli, G., Bernasconi, S., Banchini, G.
|
|
<strong>McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma.</strong>
|
|
J. Pediat. 92: 220-226, 1978.
|
|
|
|
|
|
[PubMed: 340627]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(78)80008-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hall, R., Warrick, C.
|
|
<strong>Hypersecretion of hypothalamic releasing hormones: a possible explanation of the endocrine manifestations of polyostotic fibrous dysplasia (Albright's syndrome).</strong>
|
|
Lancet 299: 1313-1316, 1972. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 4113403]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(72)91038-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hamilton, C. R., Jr., Maloof, F.
|
|
<strong>Unusual types of hyperthyroidism.</strong>
|
|
Medicine 52: 195-213, 1973.
|
|
|
|
|
|
[PubMed: 20407411]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00005792-197305000-00002]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Happle, R.
|
|
<strong>The McCune-Albright syndrome: a lethal gene surviving by mosaicism.</strong>
|
|
Clin. Genet. 29: 321-324, 1986.
|
|
|
|
|
|
[PubMed: 3720010]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb01261.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hibbs, R. E., Rush, H. P.
|
|
<strong>Albright's syndrome.</strong>
|
|
Ann. Intern. Med. 37: 587-593, 1952.
|
|
|
|
|
|
[PubMed: 12976957]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-37-3-587]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaplan, F. S., Fallon, M. D., Boden, S. D., Schmidt, R., Senior, M., Haddad, J. G.
|
|
<strong>Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome).</strong>
|
|
New Eng. J. Med. 319: 421-425, 1988.
|
|
|
|
|
|
[PubMed: 3398893]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198808183190707]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kirk, J. M. W., Brain, C. E., Carson, D. J., Hyde, J. C., Grant, D. B.
|
|
<strong>Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.</strong>
|
|
J. Pediat. 134: 789-792, 1999.
|
|
|
|
|
|
[PubMed: 10356155]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(99)70302-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kitoh, H., Yamada, Y., Nogami, H.
|
|
<strong>Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia.</strong>
|
|
J. Med. Genet. 36: 724-725, 1999.
|
|
|
|
|
|
[PubMed: 10507737]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Laven, J. S. E., Lumbroso, S., Sultan, C., Fauser, B. C. J. M.
|
|
<strong>Dynamics of ovarian function in an adult woman with McCune-Albright syndrome.</strong>
|
|
J. Clin. Endocr. Metab. 86: 2625-2630, 2001.
|
|
|
|
|
|
[PubMed: 11397863]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.86.6.7595]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Laven, J. S. E., Lumbroso, S., Sultan, C., Fauser, B. C. J. M.
|
|
<strong>Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome.</strong>
|
|
J. Clin. Endocr. Metab. 89: 1076-1078, 2004.
|
|
|
|
|
|
[PubMed: 15001590]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2003-031245]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lemli, L.
|
|
<strong>Fibrous dysplasia of bone: report of female monozygotic twins with and without the McCune-Albright syndrome.</strong>
|
|
J. Pediat. 91: 947-949, 1977.
|
|
|
|
|
|
[PubMed: 200724]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(77)80898-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lichtenstein, L., Jaffe, H. L.
|
|
<strong>Fibrous dysplasia of the bone: a condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities.</strong>
|
|
Arch. Path. 33: 777-816, 1942.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lichtenstein, L.
|
|
<strong>Polyostotic fibrous dysplasia.</strong>
|
|
Arch. Surg. 36: 874-898, 1938.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lumbroso, S., Paris, F., Sultan, C.
|
|
<strong>Activating Gs-alpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European collaborative study.</strong>
|
|
J. Clin. Endocr. Metab. 89: 2107-2113, 2004.
|
|
|
|
|
|
[PubMed: 15126527]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2003-031225]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Majzoub, J. A., Scully, R. E.
|
|
<strong>A six-year-old boy with multiple bone lesions, repeated fractures, and sexual precocity.</strong>
|
|
New Eng. J. Med. 328: 496-502, 1993.
|
|
|
|
|
|
[PubMed: 8421479]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199302183280709]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Malchoff, C. D., Reardon, G., MacGillivray, D. C., Yamase, H., Rogol, A. D., Malchoff, D. M.
|
|
<strong>An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion.</strong>
|
|
J. Clin. Endocr. Metab. 78: 803-806, 1994.
|
|
|
|
|
|
[PubMed: 8126161]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.78.3.8126161]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mastorakos, G., Mitsiades, N. S., Doufas, A. G., Koutras, D. A.
|
|
<strong>Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report.</strong>
|
|
Thyroid 7: 433-439, 1997.
|
|
|
|
|
|
[PubMed: 9226216]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1089/thy.1997.7.433]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McArthur, R. G., Hayles, A. B., Lambert, P. W.
|
|
<strong>Albright's syndrome with rickets.</strong>
|
|
Mayo Clin. Proc. 54: 313-320, 1979.
|
|
|
|
|
|
[PubMed: 431133]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McCune, D. J., Bruch, H.
|
|
<strong>Progress in pediatrics: osteodystrophia fibrosa.</strong>
|
|
Am. J. Dis. Child. 54: 806-848, 1937.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1988.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mieszczak, J., Lowe, E. S., Plourde, P., Eugster, E. A.
|
|
<strong>The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome.</strong>
|
|
J. Clin. Endocr. Metab. 93: 2751-2754, 2008.
|
|
|
|
|
|
[PubMed: 18397987]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2007-2090]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nager, G. T., Holliday, M. J.
|
|
<strong>Fibrous dysplasia of the temporal bone: update with case reports.</strong>
|
|
Ann. Otol. Rhinol. Laryng. 93: 630-633, 1984.
|
|
|
|
|
|
[PubMed: 6508135]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1177/000348948409300617]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nager, G. T., Kennedy, D. W., Kopstein, E.
|
|
<strong>Fibrous dysplasia: a review of the disease and its manifestations in the temporal bone.</strong>
|
|
Ann. Otol. Rhinol. Laryng. Suppl. 91: 1-52, 1982.
|
|
|
|
|
|
[PubMed: 6807182]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nakagawa, H., Nagasaka, A., Sugiura, T., Nakagawa, K., Yabe, Y., Nihei, N., Hirooka, M., Itoh, M., Nakai, A., Ohyama, T., Aono, T., Gerich, J. E.
|
|
<strong>Gigantism associated with McCune-Albright's syndrome.</strong>
|
|
Horm. Metab. Res. 17: 522-527, 1985.
|
|
|
|
|
|
[PubMed: 3934058]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1055/s-2007-1013594]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nerlich, A., Peschel, O., Lohrs, U., Parsche, F., Betz, P.
|
|
<strong>Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant. (Letter)</strong>
|
|
Lancet 338: 886-887, 1991.
|
|
|
|
|
|
[PubMed: 1681239]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0140-6736(91)91542-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Obuobie, K., Mullik, V., Jones, C., John, R., Rees, A. E., Davies, J. S., Scanlon, M. F., Lazarus, J. H.
|
|
<strong>McCune-Albright syndrome: growth hormone dynamics in pregnancy.</strong>
|
|
J. Clin. Endocr. Metab. 86: 2456-2458, 2001.
|
|
|
|
|
|
[PubMed: 11397839]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.86.6.7609]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Olsen, B. R.
|
|
<strong>A rare disorder, yes; an unimportant one, never. (Editorial)</strong>
|
|
J. Clin. Invest. 101: 1545-1546, 1998.
|
|
|
|
|
|
[PubMed: 9541481]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI3441]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Plotkin, H., Rauch, F., Zeitlin, L., Munns, C., Travers, R., Glorieux, F. H.
|
|
<strong>Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone.</strong>
|
|
J. Clin. Endocr. Metab. 88: 4569-4575, 2003.
|
|
|
|
|
|
[PubMed: 14557424]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2003-030050]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Premawardhana, L. D. K. E., Vora, J. P., Mills, R., Scanlon, M. F.
|
|
<strong>Acromegaly and its treatment in the McCune-Albright syndrome.</strong>
|
|
Clin. Endocr. 36: 605-608, 1992.
|
|
|
|
|
|
[PubMed: 1424186]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2265.1992.tb02272.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reitzik, M., Lownie, J. F.
|
|
<strong>Familial polyostotic fibrous dysplasia.</strong>
|
|
Oral Surg. 40: 769-774, 1975.
|
|
|
|
|
|
[PubMed: 1060033]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0030-4220(75)90446-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwindinger, W. F., Francomano, C. A., Levine, M. A., McKusick, V. A.
|
|
<strong>DNA light on the Tegernsee giant. (Letter)</strong>
|
|
Lancet 338: 1454-1455, 1991.
|
|
|
|
|
|
[PubMed: 1683435]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0140-6736(91)92752-n]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwindinger, W. F., Francomano, C. A., Levine, M. A.
|
|
<strong>Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 5152-5156, 1992.
|
|
|
|
|
|
[PubMed: 1594625]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.89.11.5152]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shires, R., Whyte, M. P., Avioli, L. V.
|
|
<strong>Idiopathic hypothalamic hypogonadotropic hypogonadism with polyostotic fibrous dysplasia.</strong>
|
|
Arch. Intern. Med. 139: 1187-1189, 1979.
|
|
|
|
|
|
[PubMed: 485758]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taconis, W. K.
|
|
<strong>Osteosarcoma in fibrous dysplasia.</strong>
|
|
Skeletal Radiol. 17: 163-170, 1988.
|
|
|
|
|
|
[PubMed: 3163851]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00351001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tinschert, S., Gerl, H., Gewies, A., Jung, H.-P., Nurnberg, P.
|
|
<strong>McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.</strong>
|
|
Am. J. Med. Genet. 83: 100-108, 1999.
|
|
|
|
|
|
[PubMed: 10190480]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Viljoen, D. L., Versfeld, G. A., Losken, W., Beighton, P.
|
|
<strong>Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?</strong>
|
|
Am. J. Med. Genet. 29: 661-667, 1988.
|
|
|
|
|
|
[PubMed: 3377009]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320290325]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
von Recklinghausen, F. D.
|
|
<strong>Die Fibrose oder deformirende Ostitis, die Osteomalacie und die Osteoplastische Carcinose in ihren gegenseitigen Beziehungen. Festschrift f. Rudolf Virchow.</strong>
|
|
Berlin: Reimer 1891.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weinstein, L. S., Shenker, A., Gejman, P. V., Merino, M. J., Friedman, E., Spiegel, A. M.
|
|
<strong>Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.</strong>
|
|
New Eng. J. Med. 325: 1688-1695, 1991.
|
|
|
|
|
|
[PubMed: 1944469]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199112123252403]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wirth, W. A., Leavitt, D., Enzinger, F. M.
|
|
<strong>Multiple intramuscular myxomas: another extraskeletal manifestation of fibrous dysplasia.</strong>
|
|
Cancer 27: 1167-1173, 1971.
|
|
|
|
|
|
[PubMed: 5581510]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1097-0142(197105)27:5<1167::aid-cncr2820270523>3.0.co;2-z]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wrong, O.
|
|
<strong>Tegernsee giant. (Letter)</strong>
|
|
Lancet 339: 194 only, 1992.
|
|
|
|
|
|
[PubMed: 1346061]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0140-6736(92)90275-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yang, G. C. H., Yao, J. L., Feiner, H. D., Roses, D. F., Kumar, A., Mulder, J. E.
|
|
<strong>Lipid-rich follicular carcinoma of the thyroid in a patient with McCune-Albright syndrome.</strong>
|
|
Mod. Path. 12: 969-973, 1999.
|
|
|
|
|
|
[PubMed: 10530562]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yoshimoto, M., Nakayama, M., Baba, T., Uehara, Y., Niikawa, N., Ito, M., Tsuji, Y.
|
|
<strong>A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism.</strong>
|
|
Acta Paediat. Scand. 80: 984-987, 1991.
|
|
|
|
|
|
[PubMed: 1755313]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1651-2227.1991.tb11769.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zacharin, M., Bajpai, A., Chow, C. W., Catto-Smith, A., Stratakis, C., Wong, M. W., Scott, R.
|
|
<strong>Gastrointestinal polyps in McCune Albright syndrome.</strong>
|
|
J. Med. Genet. 48: 458-461, 2011.
|
|
|
|
|
|
[PubMed: 21357941]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2010.086330]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
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|
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/9/2011<br>John A. Phillips, III - updated : 12/20/2010<br>John A. Phillips, III - updated : 3/24/2008<br>Cassandra L. Kniffin - updated : 2/19/2008<br>John A. Phillips, III - updated : 8/20/2006<br>Marla J. F. O'Neill - updated : 9/2/2005<br>John A. Phillips, III - updated : 7/26/2005<br>John A. Phillips, III - updated : 7/14/2005<br>John A. Phillips, III - updated : 3/31/2005<br>John A. Phillips, III - updated : 4/8/2003<br>John A. Phillips, III - updated : 8/17/2001<br>John A. Phillips, III - updated : 7/20/2001<br>John A. Phillips, III - updated : 7/16/2001<br>Victor A. McKusick - updated : 4/11/2000<br>Ada Hamosh - updated : 2/10/2000<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 8/5/1999<br>Victor A. McKusick - updated : 5/18/1998
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/21/2022<br>carol : 09/20/2022<br>carol : 09/19/2022<br>carol : 06/04/2022<br>carol : 10/14/2016<br>alopez : 08/17/2011<br>ckniffin : 8/9/2011<br>carol : 4/20/2011<br>terry : 1/13/2011<br>alopez : 12/20/2010<br>terry : 2/6/2009<br>carol : 12/19/2008<br>terry : 9/26/2008<br>carol : 3/24/2008<br>carol : 2/28/2008<br>carol : 2/28/2008<br>ckniffin : 2/19/2008<br>alopez : 8/20/2006<br>terry : 12/14/2005<br>wwang : 9/2/2005<br>alopez : 7/26/2005<br>alopez : 7/14/2005<br>alopez : 3/31/2005<br>tkritzer : 4/14/2003<br>terry : 4/8/2003<br>carol : 2/27/2003<br>cwells : 8/22/2001<br>cwells : 8/17/2001<br>cwells : 8/14/2001<br>cwells : 7/20/2001<br>cwells : 7/20/2001<br>mcapotos : 7/18/2001<br>mcapotos : 7/18/2001<br>mcapotos : 7/16/2001<br>mcapotos : 5/2/2000<br>terry : 4/11/2000<br>mcapotos : 4/6/2000<br>terry : 2/10/2000<br>carol : 2/10/2000<br>alopez : 12/16/1999<br>alopez : 12/16/1999<br>carol : 8/19/1999<br>jlewis : 8/19/1999<br>terry : 8/5/1999<br>carol : 2/23/1999<br>carol : 2/8/1999<br>terry : 2/2/1999<br>carol : 6/9/1998<br>terry : 5/18/1998<br>mark : 10/19/1997<br>mark : 6/11/1995<br>carol : 1/30/1995<br>pfoster : 9/7/1994<br>davew : 8/1/1994<br>terry : 5/16/1994<br>mimadm : 4/18/1994
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