2917 lines
194 KiB
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2917 lines
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- #166350 - OSSEOUS HETEROPLASIA, PROGRESSIVE; POH
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- OMIM
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<p>
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<span class="h4">#166350</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/166350"><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="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</a>
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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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<a href="#creationDate"><strong>Creation Date</strong></a>
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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 style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=OSSEOUS HETEROPLASIA, PROGRESSIVE" 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=2516&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/NBK459117/" 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/5985" 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/progressive-osseous-heteroplasia" 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=166350[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=2762" 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/dd13c3a6-c6be-44c5-8517-3f82af1e9789/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 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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</a>
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</span>
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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:0111535" 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/166350" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0111535" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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> 404074003, 71304002, 719271000<br />
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<strong>ORPHA:</strong> 2762<br />
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<strong>DO:</strong> 0111535<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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166350
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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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OSSEOUS HETEROPLASIA, PROGRESSIVE; POH
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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">
|
|
ECTOPIC OSSIFICATION, FAMILIAL<br />
|
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OSTEOMA CUTIS
|
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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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<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
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Osseous heteroplasia, progressive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/166350"> 166350 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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GNAS
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<span class="mim-font">
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<a href="/entry/139320"> 139320 </a>
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<a href="/clinicalSynopsis/166350" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="sr-only">Toggle Dropdown</span>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/166350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/166350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Heterotopic bone formation in dermis and subcutaneous fat <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674698</a>]</span><br /> -
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Joint ankylosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36504009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36504009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111227009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111227009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003090&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003090</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031013</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<em> Limbs </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Growth retardation of affected limbs due to heterotopic bone formation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674699</a>]</span><br />
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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<span class="h5 mim-font">
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<em> Skin </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Dermal ossification (osteoma cutis) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674700</a>]</span><br /> -
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Subcutaneous papules in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674701&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674701</a>]</span><br />
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</span>
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</div>
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</div>
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<span class="h5 mim-font">
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<strong> MUSCLE, SOFT TISSUES </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Heterotopic bone formation in subcutaneous fat <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674697</a>]</span><br />
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</span>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Onset in infancy or childhood<br /> -
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
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Variable severity and progression<br /> -
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Caused by paternally-inherited inactivating GNAS1 mutations<br />
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</span>
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</div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (GNAS1, <a href="/entry/139320#0011">139320.0011</a>)<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<br />
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 progressive osseous heteroplasia (POH) is caused by a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene (<a href="/entry/139320">139320</a>) on the paternal allele.</p><p>See also pseudopseudohypoparathyroidism (PPHP; <a href="/entry/612463">612463</a>), a similar disorder that is also caused by loss-of-function mutations in the GNAS gene on the paternal allele.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Progressive osseous heteroplasia is a rare autosomal dominant disorder characterized by dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia (<a href="#11" class="mim-tip-reference" title="Kaplan, F. S., Craver, R., MacEwen, G. D., Gannon, F. H., Finkel, G., Hahn, G., Tabas, J., Gardner, R. J. M., Zasloff, M. A. <strong>Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification: two new case reports and follow-up of three previously reported cases.</strong> J. Bone Joint Surg. Am. 76: 425-436, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8126048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8126048</a>]" pmid="8126048">Kaplan et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8126048" 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>The molecular defect causing POH is the same as that causing PPHP: an inactivating GNAS mutation caused only by paternal inheritance of the mutant allele. However, patients with PPHP have a constellation of physical findings referred to as Albright hereditary osteodystrophy (AHO; see <a href="/entry/103580">103580</a>) that is often not seen in patients with POH. <a href="#3" class="mim-tip-reference" title="Bastepe, M., Juppner, H. <strong>GNAS locus and pseudohypoparathyroidism.</strong> Horm. Res. 63: 65-74, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15711092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15711092</a>] [<a href="https://doi.org/10.1159/000083895" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15711092">Bastepe and Juppner (2005)</a> suggested that POH may be an extreme end of the spectrum of the AHO features seen in PPHP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15711092" 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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<br />
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<strong>Clinical Features</strong>
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<p><a href="#7" class="mim-tip-reference" title="Fawcett, H. A., Marsden, R. A. <strong>Hereditary osteoma cutis.</strong> J. Roy. Soc. Med. 76: 697-699, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6887189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6887189</a>]" pmid="6887189">Fawcett and Marsden (1983)</a> reported osteoma cutis in 3 generations of a family. The 3-year-old proposita developed hard nodules in the skin at age 6 months. Skin biopsies showed multiple spicules of bone in the skin, which showed normal membranous bone structures. The surrounding dermis showed no scarring or inflammatory changes. She was diagnosed with celiac disease at age 3 years. Her 6-year-old sister had skin lesions of the legs and trunk starting about the same age but at age 2 years she had a painful, swollen right ankle. Soft tissue calcifications were visualized in both the hands and feet. The father of the girls had several cutaneous osteomas on the arms. His father, deceased, was known to have had similar lesions on his shoulders for many years. <a href="#7" class="mim-tip-reference" title="Fawcett, H. A., Marsden, R. A. <strong>Hereditary osteoma cutis.</strong> J. Roy. Soc. Med. 76: 697-699, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6887189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6887189</a>]" pmid="6887189">Fawcett and Marsden (1983)</a> noted that <a href="#14" class="mim-tip-reference" title="Peterson, W. C., Jr., Mandel, S. L. <strong>Primary osteomas of skin.</strong> Arch. Derm. 87: 626-632, 1963."None>Peterson and Mandel (1963)</a> had described an affected mother and son. The mother also had multiple pigmented nevi; the son died at 15 months of alveolar sarcoma of the cerebellum. Although <a href="#4" class="mim-tip-reference" title="Brook, C. G. D., Valman, H. B. <strong>Osteoma cutis and Albright's hereditary osteodystrophy.</strong> Brit. J. Derm. 85: 471-475, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5002319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5002319</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1971.tb14056.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5002319">Brook and Valman (1971)</a> noted that early cases may have represented AHO, <a href="#7" class="mim-tip-reference" title="Fawcett, H. A., Marsden, R. A. <strong>Hereditary osteoma cutis.</strong> J. Roy. Soc. Med. 76: 697-699, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6887189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6887189</a>]" pmid="6887189">Fawcett and Marsden (1983)</a> thought that AHO was unlikely in their family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5002319+6887189" 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="#8" class="mim-tip-reference" title="Gardner, R. J. M., Yun, K., Craw, S. M. <strong>Familial ectopic ossification.</strong> J. Med. Genet. 25: 113-117, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3126297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3126297</a>] [<a href="https://doi.org/10.1136/jmg.25.2.113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3126297">Gardner et al. (1988)</a> described a family in which members in 2 generations and 3 sibships had ectopic ossification. Inheritance was autosomal dominant. Most members had childhood onset of multifocal subcutaneous ossifications, or primary osteoma cutis, which were of trivial clinical significance. One family member had extensive ectopic ossification involving the right leg, first noted at the age of 3 weeks and severely interfering with growth of the limb by age 8 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3126297" 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="#13" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1989."None>McKusick (1989)</a> observed osteoma cutis in a 38-year-old man who also had unerupted teeth, severe bilateral carpal tunnel syndrome, and unusual changes in the bones of the forearms and legs that were quite different from those of pseudohypoparathyroidism.</p><p><a href="#9" class="mim-tip-reference" title="Izraeli, S., Metzker, A., Horev, G., Karmi, D., Merlob, P., Farfel, Z. <strong>Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.</strong> Am. J. Med. Genet. 43: 764-767, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1621772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1621772</a>] [<a href="https://doi.org/10.1002/ajmg.1320430424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1621772">Izraeli et al. (1992)</a> described congenital osteoma cutis in members of 3 generations with convincing clinical and laboratory evidence of Albright hereditary osteodystrophy and with one instance of male-to-male transmission. In the propositus, small, flat, and hard subcutaneous plaques were noted on the back at birth, and biopsy at the age of 3 days confirmed the diagnosis of osteoma cutis. In a sister similar nodules were noted in the first month of life, and the mother had had a hard subcutaneous nodule on the hand from birth. No deficiency of Gs activity was detected by the assay used. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1621772" 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="Kaplan, F. S., Craver, R., MacEwen, G. D., Gannon, F. H., Finkel, G., Hahn, G., Tabas, J., Gardner, R. J. M., Zasloff, M. A. <strong>Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification: two new case reports and follow-up of three previously reported cases.</strong> J. Bone Joint Surg. Am. 76: 425-436, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8126048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8126048</a>]" pmid="8126048">Kaplan et al. (1994)</a> reported 2 new cases and follow-up on 3 previously reported cases, 1 of which was that reported by <a href="#8" class="mim-tip-reference" title="Gardner, R. J. M., Yun, K., Craw, S. M. <strong>Familial ectopic ossification.</strong> J. Med. Genet. 25: 113-117, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3126297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3126297</a>] [<a href="https://doi.org/10.1136/jmg.25.2.113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3126297">Gardner et al. (1988)</a>. At follow-up examination of this family, the proband was 31 years old, was married, and had a daughter who was clinically normal. This patient's family was the only one in which relatives were affected; individuals in 4 sibships in 2 generations showed minor cutaneous ossification only. A maculopapular eruption was observed in the early stages of the disorder and all of the children had ossification of the skin in infancy. None of the children developed preosseous tumor-like swellings, a nearly universal finding in fibrodysplasia ossificans progressiva (FOP; <a href="/entry/135100">135100</a>). All developed progression of heterotopic ossification into deep connective tissues, including fascia and skeletal muscle, in a process of ossification that was primarily intramembranous rather than endochondral. The radiologic pattern of heterotopic ossification in POH was a cocoon-like web of heterotopic bone entangling the soft connective tissues from the dermis down through skeletal muscle without regard to tissue planes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8126048+3126297" 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="Athanasou, N. A., Benson, M. K. D'A., Brenton, D. P., Smith, R. <strong>Progressive osseous heteroplasia: a case report.</strong> Bone 15: 471-475, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980957</a>] [<a href="https://doi.org/10.1016/8756-3282(94)90269-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7980957">Athanasou et al. (1994)</a> reported a typical case in an 18-year-old girl. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7980957" 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="#16" class="mim-tip-reference" title="Schmidt, A. H., Vincent, K. A., Aiona, M. D. <strong>Hemimelic progressive osseous heteroplasia: a case report.</strong> J. Bone Joint Surg. Am. 76: 907-912, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8200899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8200899</a>] [<a href="https://doi.org/10.2106/00004623-199406000-00016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8200899">Schmidt et al. (1994)</a> reported a 9-year-old Hispanic girl who had progressive ossification of the soft tissues on the right side of the face and body. Histologic analysis of biopsy material showed intramembranous, subcutaneous ossification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8200899" 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="Rosenfeld, S. R., Kaplan, F. S. <strong>Progressive osseous heteroplasia in male patients: two new case reports.</strong> Clin. Orthop. Rel. Res. 317: 243-245, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7671486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7671486</a>]" pmid="7671486">Rosenfeld and Kaplan (1995)</a> found reports of 8 classic cases, all in female patients, and documented typical features of progressive osseous heteroplasia in 2 boys, 1 of whom showed left-sided hemimelic heterotopic ossification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7671486" 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="Urtizberea, J. A., Testart, H., Cartault, F., Boccon-Gibod, L., Le Merrer, M., Kaplan, F. S. <strong>Progressive osseous heteroplasia: report of a family.</strong> J. Bone Joint Surg. Br. 80: 768-771, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9768883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9768883</a>]" pmid="9768883">Urtizberea et al. (1998)</a> described male patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9768883" 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="#18" class="mim-tip-reference" title="Stoll, C., Javier, M.-R., Bellocq, J.-P. <strong>Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues.</strong> Ann. Genet. 43: 75-80, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10998448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10998448</a>] [<a href="https://doi.org/10.1016/s0003-3995(00)00020-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10998448">Stoll et al. (2000)</a> reported the clinical and radiologic features of a patient with POH who was 20 years old at presentation. In addition to abnormal ossifications, she had short metacarpals at the fourth and fifth rays and short metatarsals at the second rays. Her parents were unaffected. At the time of the patient's birth, her father and mother were 48 and 36 years old, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10998448" 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="Kaplan, F. S. <strong>Personal Communication.</strong> Philadelphia, Pa. 10/30/2000."None>Kaplan (2000)</a> noted that patients with POH do not have the characteristic malformation of the great toe seen in fibrodysplasia ossificans progressiva and that patients with FOP do not have ossification of the skin in infancy. POH is also distinct from tumoral calcinosis (<a href="/entry/211900">211900</a>).</p><p><a href="#5" class="mim-tip-reference" title="Eddy, M. C., Jan de Beur, S. M., Yandow, S. M., McAlister, W. H., Shore, E. M., Kaplan, F. S., Whyte, M. P., Levine, M. A. <strong>Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.</strong> J. Bone Miner. Res. 15: 2074-2083, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11092390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11092390</a>] [<a href="https://doi.org/10.1359/jbmr.2000.15.11.2074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11092390">Eddy et al. (2000)</a> reported 2 unrelated girls with typical clinical, radiographic, and histologic features of POH who also had findings of Albright hereditary osteodystrophy. One child had mild brachydactyly but no endocrinopathy, whereas the other manifested brachydactyly, obesity, and target tissue resistance to thyrotropin and parathyroid hormone. Erythrocyte membranes from both girls showed decreased levels of the Gs-alpha, suggesting that the 2 conditions share a similar molecular basis and pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11092390" 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="#6" class="mim-tip-reference" title="Faust, R. A., Shore, E. M., Stevens, C. E., Xu, M., Shah, S., Phillips, C. D., Kaplan, F. S. <strong>Progressive osseous heteroplasia in the face of a child.</strong> Am. J. Med. Genet. 118A: 71-75, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12605446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12605446</a>] [<a href="https://doi.org/10.1002/ajmg.a.10170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12605446">Faust et al. (2003)</a> described an 8-year-old Albanian girl with POH of the face. Biopsy showed osteoma cutis superficially with ectopic bone formation in the deeper tissues, including skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12605446" 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="Adegbite, N. S., Xu, M., Kaplan, F. S., Shore, E. M., Pignolo, R. J. <strong>Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.</strong> Am. J. Med. Genet. 146A: 1788-1796, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18553568[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18553568">Adegbite et al. (2008)</a> reviewed the charts of 111 individuals with cutaneous and subcutaneous ossification. All patients were assessed for 8 characteristics: age of onset of heterotopic ossification (HO), presence and location of HO, depth of HO, progression of HO, features of Albright hereditary osteodystrophy, parathyroid hormone resistance, and GNAS mutation analysis. Based on clinical criteria, they concluded that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of GNAS-inactivating conditions associated with extraskeletal ossification and that they can be distinguished from other GNAS-based disorders by a single clinical parameter, i.e., the extension of HO from superficial to deep tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553568" 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="#19" class="mim-tip-reference" title="Urtizberea, J. A., Testart, H., Cartault, F., Boccon-Gibod, L., Le Merrer, M., Kaplan, F. S. <strong>Progressive osseous heteroplasia: report of a family.</strong> J. Bone Joint Surg. Br. 80: 768-771, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9768883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9768883</a>]" pmid="9768883">Urtizberea et al. (1998)</a> noted that POH has been observed in sporadic cases and in an autosomal dominant pedigree pattern with widely variable expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9768883" 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="#17" class="mim-tip-reference" title="Shore, E. M., Ahn, J., Jan de Beur, S., Li, M., Xu, M., Gardiner, R. J. M., Zasloff, M. A., Whyte, M. P., Levine, M. A., Kaplan, F. S. <strong>Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.</strong> New Eng. J. Med. 346: 99-106, 2002. Note: Erratum: New Eng. J. Med. 346: 1678 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11784876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11784876</a>] [<a href="https://doi.org/10.1056/NEJMoa011262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11784876">Shore et al. (2002)</a> identified heterozygous inactivating mutations in the GNAS1 gene (e.g., <a href="/entry/139320#0024">139320.0024</a>) in 13 of 18 probands with POH. The defective allele in POH was inherited exclusively from fathers, a result consistent with a model of imprinting for GNAS1. Direct evidence that the same mutation can cause either POH or AHO features was observed in a single family, in which the phenotype correlated with the parental origin of the mutant allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11784876" 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>In an Albanian girl with POH of the face, <a href="#6" class="mim-tip-reference" title="Faust, R. A., Shore, E. M., Stevens, C. E., Xu, M., Shah, S., Phillips, C. D., Kaplan, F. S. <strong>Progressive osseous heteroplasia in the face of a child.</strong> Am. J. Med. Genet. 118A: 71-75, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12605446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12605446</a>] [<a href="https://doi.org/10.1002/ajmg.a.10170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12605446">Faust et al. (2003)</a> identified a heterozygous germline mutation in the GNAS1 gene (<a href="/entry/139320#0027">139320.0027</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12605446" 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="#1" class="mim-tip-reference" title="Adegbite, N. S., Xu, M., Kaplan, F. S., Shore, E. M., Pignolo, R. J. <strong>Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.</strong> Am. J. Med. Genet. 146A: 1788-1796, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18553568[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18553568">Adegbite et al. (2008)</a> reviewed the charts of 111 individuals with cutaneous and subcutaneous ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms, such as POH, from the nonprogressive forms, such as PPHP and pseudohypoparathyroidism types Ia (<a href="/entry/103580">103580</a>) and Ic (<a href="/entry/612462">612462</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553568" 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="#12" class="mim-tip-reference" title="Maclean, G. D., Main, R. A., Anderson, T. E., Best, P. V. <strong>Connective tissue ossification presenting in the skin.</strong> Arch. Derm. 94: 168-174, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5911503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5911503</a>]" pmid="5911503">Maclean et al. (1966)</a> described a mother and daughter with multifocal connective tissue ossification. The daughter was a 7-year-old mentally retarded girl of normal stature. These cases may have represented pseudopseudohypoparathyroidism (PPHP; <a href="/entry/612463">612463</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5911503" 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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Adegbite, N. S., Xu, M., Kaplan, F. S., Shore, E. M., Pignolo, R. J.
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<strong>Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.</strong>
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Am. J. Med. Genet. 146A: 1788-1796, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18553568[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553568" 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.a.32346" target="_blank">Full Text</a>]
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Athanasou, N. A., Benson, M. K. D'A., Brenton, D. P., Smith, R.
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<strong>Progressive osseous heteroplasia: a case report.</strong>
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Bone 15: 471-475, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7980957" 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/10.1016/8756-3282(94)90269-0" target="_blank">Full Text</a>]
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Bastepe, M., Juppner, H.
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Horm. Res. 63: 65-74, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15711092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15711092</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15711092" 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/10.1159/000083895" target="_blank">Full Text</a>]
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Brook, C. G. D., Valman, H. B.
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<strong>Osteoma cutis and Albright's hereditary osteodystrophy.</strong>
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Brit. J. Derm. 85: 471-475, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5002319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5002319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5002319" 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.1365-2133.1971.tb14056.x" target="_blank">Full Text</a>]
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Eddy, M. C., Jan de Beur, S. M., Yandow, S. M., McAlister, W. H., Shore, E. M., Kaplan, F. S., Whyte, M. P., Levine, M. A.
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<strong>Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.</strong>
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J. Bone Miner. Res. 15: 2074-2083, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11092390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11092390</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11092390" 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.2000.15.11.2074" target="_blank">Full Text</a>]
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Faust, R. A., Shore, E. M., Stevens, C. E., Xu, M., Shah, S., Phillips, C. D., Kaplan, F. S.
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<strong>Progressive osseous heteroplasia in the face of a child.</strong>
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Am. J. Med. Genet. 118A: 71-75, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12605446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12605446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12605446" 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.a.10170" target="_blank">Full Text</a>]
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Fawcett, H. A., Marsden, R. A.
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<strong>Hereditary osteoma cutis.</strong>
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J. Roy. Soc. Med. 76: 697-699, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6887189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6887189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6887189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gardner, R. J. M., Yun, K., Craw, S. M.
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<strong>Familial ectopic ossification.</strong>
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J. Med. Genet. 25: 113-117, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3126297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3126297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3126297" 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.25.2.113" target="_blank">Full Text</a>]
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Izraeli, S., Metzker, A., Horev, G., Karmi, D., Merlob, P., Farfel, Z.
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<strong>Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.</strong>
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Am. J. Med. Genet. 43: 764-767, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1621772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1621772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1621772" 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.1320430424" target="_blank">Full Text</a>]
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Kaplan, F. S.
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<strong>Personal Communication.</strong>
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Philadelphia, Pa. 10/30/2000.
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Kaplan, F. S., Craver, R., MacEwen, G. D., Gannon, F. H., Finkel, G., Hahn, G., Tabas, J., Gardner, R. J. M., Zasloff, M. A.
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<strong>Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification: two new case reports and follow-up of three previously reported cases.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8126048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8126048</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8126048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Maclean, G. D., Main, R. A., Anderson, T. E., Best, P. V.
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<strong>Connective tissue ossification presenting in the skin.</strong>
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Arch. Derm. 94: 168-174, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5911503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5911503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5911503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="McKusick1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1989.
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Peterson1963" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Peterson, W. C., Jr., Mandel, S. L.
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<strong>Primary osteomas of skin.</strong>
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Arch. Derm. 87: 626-632, 1963.
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Rosenfeld1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rosenfeld, S. R., Kaplan, F. S.
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<strong>Progressive osseous heteroplasia in male patients: two new case reports.</strong>
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Clin. Orthop. Rel. Res. 317: 243-245, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7671486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7671486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7671486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Schmidt1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schmidt, A. H., Vincent, K. A., Aiona, M. D.
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<strong>Hemimelic progressive osseous heteroplasia: a case report.</strong>
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J. Bone Joint Surg. Am. 76: 907-912, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8200899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8200899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8200899" 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/10.2106/00004623-199406000-00016" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Shore2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shore, E. M., Ahn, J., Jan de Beur, S., Li, M., Xu, M., Gardiner, R. J. M., Zasloff, M. A., Whyte, M. P., Levine, M. A., Kaplan, F. S.
|
|
<strong>Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.</strong>
|
|
New Eng. J. Med. 346: 99-106, 2002. Note: Erratum: New Eng. J. Med. 346: 1678 only, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11784876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11784876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11784876" 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/NEJMoa011262" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Stoll2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stoll, C., Javier, M.-R., Bellocq, J.-P.
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<strong>Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues.</strong>
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Ann. Genet. 43: 75-80, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10998448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10998448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10998448" 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/10.1016/s0003-3995(00)00020-4" target="_blank">Full Text</a>]
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Urtizberea1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Urtizberea, J. A., Testart, H., Cartault, F., Boccon-Gibod, L., Le Merrer, M., Kaplan, F. S.
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<strong>Progressive osseous heteroplasia: report of a family.</strong>
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J. Bone Joint Surg. Br. 80: 768-771, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9768883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9768883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9768883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</ol>
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<br />
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</div>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Nara Sobreira - updated : 6/17/2009
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 12/15/2008<br>Cassandra L. Kniffin - reorganized : 2/28/2008<br>Victor A. McKusick - updated : 4/16/2003<br>Victor A. McKusick - updated : 1/15/2002<br>Victor A. McKusick - updated : 2/13/2001<br>Victor A. McKusick - updated : 10/30/2000
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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 : 10/01/2013
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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terry : 4/4/2013<br>terry : 1/13/2011<br>carol : 6/18/2009<br>terry : 6/17/2009<br>carol : 12/19/2008<br>ckniffin : 12/15/2008<br>carol : 3/26/2008<br>carol : 2/28/2008<br>ckniffin : 2/19/2008<br>ckniffin : 8/27/2003<br>tkritzer : 4/25/2003<br>terry : 4/16/2003<br>carol : 2/27/2003<br>terry : 4/4/2002<br>carol : 1/31/2002<br>mcapotos : 1/17/2002<br>terry : 1/15/2002<br>carol : 2/15/2001<br>cwells : 2/15/2001<br>cwells : 2/14/2001<br>terry : 2/13/2001<br>carol : 10/30/2000<br>terry : 10/24/1995<br>mimadm : 1/14/1995<br>davew : 7/1/1994<br>jason : 6/15/1994<br>carol : 7/16/1992<br>supermim : 3/16/1992
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<h3>
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<span class="mim-font">
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<strong>#</strong> 166350
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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OSSEOUS HETEROPLASIA, PROGRESSIVE; POH
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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ECTOPIC OSSIFICATION, FAMILIAL<br />
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OSTEOMA CUTIS
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</h4>
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<br />
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<div>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 404074003, 71304002, 719271000;
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<strong>ORPHA:</strong> 2762;
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<strong>DO:</strong> 0111535;
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</span>
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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 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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20q13.32
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</span>
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</td>
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<td>
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<span class="mim-font">
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Osseous heteroplasia, progressive
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</span>
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</td>
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<td>
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<span class="mim-font">
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166350
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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GNAS
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</span>
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</td>
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<td>
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<span class="mim-font">
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139320
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<h4>
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<span class="mim-font">
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<strong>TEXT</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>A number sign (#) is used with this entry because progressive osseous heteroplasia (POH) is caused by a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene (139320) on the paternal allele.</p><p>See also pseudopseudohypoparathyroidism (PPHP; 612463), a similar disorder that is also caused by loss-of-function mutations in the GNAS gene on the paternal allele.</p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Progressive osseous heteroplasia is a rare autosomal dominant disorder characterized by dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia (Kaplan et al., 1994). </p><p>The molecular defect causing POH is the same as that causing PPHP: an inactivating GNAS mutation caused only by paternal inheritance of the mutant allele. However, patients with PPHP have a constellation of physical findings referred to as Albright hereditary osteodystrophy (AHO; see 103580) that is often not seen in patients with POH. Bastepe and Juppner (2005) suggested that POH may be an extreme end of the spectrum of the AHO features seen in PPHP. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</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>Fawcett and Marsden (1983) reported osteoma cutis in 3 generations of a family. The 3-year-old proposita developed hard nodules in the skin at age 6 months. Skin biopsies showed multiple spicules of bone in the skin, which showed normal membranous bone structures. The surrounding dermis showed no scarring or inflammatory changes. She was diagnosed with celiac disease at age 3 years. Her 6-year-old sister had skin lesions of the legs and trunk starting about the same age but at age 2 years she had a painful, swollen right ankle. Soft tissue calcifications were visualized in both the hands and feet. The father of the girls had several cutaneous osteomas on the arms. His father, deceased, was known to have had similar lesions on his shoulders for many years. Fawcett and Marsden (1983) noted that Peterson and Mandel (1963) had described an affected mother and son. The mother also had multiple pigmented nevi; the son died at 15 months of alveolar sarcoma of the cerebellum. Although Brook and Valman (1971) noted that early cases may have represented AHO, Fawcett and Marsden (1983) thought that AHO was unlikely in their family. </p><p>Gardner et al. (1988) described a family in which members in 2 generations and 3 sibships had ectopic ossification. Inheritance was autosomal dominant. Most members had childhood onset of multifocal subcutaneous ossifications, or primary osteoma cutis, which were of trivial clinical significance. One family member had extensive ectopic ossification involving the right leg, first noted at the age of 3 weeks and severely interfering with growth of the limb by age 8 years. </p><p>McKusick (1989) observed osteoma cutis in a 38-year-old man who also had unerupted teeth, severe bilateral carpal tunnel syndrome, and unusual changes in the bones of the forearms and legs that were quite different from those of pseudohypoparathyroidism.</p><p>Izraeli et al. (1992) described congenital osteoma cutis in members of 3 generations with convincing clinical and laboratory evidence of Albright hereditary osteodystrophy and with one instance of male-to-male transmission. In the propositus, small, flat, and hard subcutaneous plaques were noted on the back at birth, and biopsy at the age of 3 days confirmed the diagnosis of osteoma cutis. In a sister similar nodules were noted in the first month of life, and the mother had had a hard subcutaneous nodule on the hand from birth. No deficiency of Gs activity was detected by the assay used. </p><p>Kaplan et al. (1994) reported 2 new cases and follow-up on 3 previously reported cases, 1 of which was that reported by Gardner et al. (1988). At follow-up examination of this family, the proband was 31 years old, was married, and had a daughter who was clinically normal. This patient's family was the only one in which relatives were affected; individuals in 4 sibships in 2 generations showed minor cutaneous ossification only. A maculopapular eruption was observed in the early stages of the disorder and all of the children had ossification of the skin in infancy. None of the children developed preosseous tumor-like swellings, a nearly universal finding in fibrodysplasia ossificans progressiva (FOP; 135100). All developed progression of heterotopic ossification into deep connective tissues, including fascia and skeletal muscle, in a process of ossification that was primarily intramembranous rather than endochondral. The radiologic pattern of heterotopic ossification in POH was a cocoon-like web of heterotopic bone entangling the soft connective tissues from the dermis down through skeletal muscle without regard to tissue planes. </p><p>Athanasou et al. (1994) reported a typical case in an 18-year-old girl. </p><p>Schmidt et al. (1994) reported a 9-year-old Hispanic girl who had progressive ossification of the soft tissues on the right side of the face and body. Histologic analysis of biopsy material showed intramembranous, subcutaneous ossification. </p><p>Rosenfeld and Kaplan (1995) found reports of 8 classic cases, all in female patients, and documented typical features of progressive osseous heteroplasia in 2 boys, 1 of whom showed left-sided hemimelic heterotopic ossification. </p><p>Urtizberea et al. (1998) described male patients. </p><p>Stoll et al. (2000) reported the clinical and radiologic features of a patient with POH who was 20 years old at presentation. In addition to abnormal ossifications, she had short metacarpals at the fourth and fifth rays and short metatarsals at the second rays. Her parents were unaffected. At the time of the patient's birth, her father and mother were 48 and 36 years old, respectively. </p><p>Kaplan (2000) noted that patients with POH do not have the characteristic malformation of the great toe seen in fibrodysplasia ossificans progressiva and that patients with FOP do not have ossification of the skin in infancy. POH is also distinct from tumoral calcinosis (211900).</p><p>Eddy et al. (2000) reported 2 unrelated girls with typical clinical, radiographic, and histologic features of POH who also had findings of Albright hereditary osteodystrophy. One child had mild brachydactyly but no endocrinopathy, whereas the other manifested brachydactyly, obesity, and target tissue resistance to thyrotropin and parathyroid hormone. Erythrocyte membranes from both girls showed decreased levels of the Gs-alpha, suggesting that the 2 conditions share a similar molecular basis and pathogenesis. </p><p>Faust et al. (2003) described an 8-year-old Albanian girl with POH of the face. Biopsy showed osteoma cutis superficially with ectopic bone formation in the deeper tissues, including skeletal muscle. </p><p>Adegbite et al. (2008) reviewed the charts of 111 individuals with cutaneous and subcutaneous ossification. All patients were assessed for 8 characteristics: age of onset of heterotopic ossification (HO), presence and location of HO, depth of HO, progression of HO, features of Albright hereditary osteodystrophy, parathyroid hormone resistance, and GNAS mutation analysis. Based on clinical criteria, they concluded that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of GNAS-inactivating conditions associated with extraskeletal ossification and that they can be distinguished from other GNAS-based disorders by a single clinical parameter, i.e., the extension of HO from superficial to deep tissue. </p>
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<strong>Inheritance</strong>
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<p>Urtizberea et al. (1998) noted that POH has been observed in sporadic cases and in an autosomal dominant pedigree pattern with widely variable expression. </p>
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<strong>Molecular Genetics</strong>
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<p>Shore et al. (2002) identified heterozygous inactivating mutations in the GNAS1 gene (e.g., 139320.0024) in 13 of 18 probands with POH. The defective allele in POH was inherited exclusively from fathers, a result consistent with a model of imprinting for GNAS1. Direct evidence that the same mutation can cause either POH or AHO features was observed in a single family, in which the phenotype correlated with the parental origin of the mutant allele. </p><p>In an Albanian girl with POH of the face, Faust et al. (2003) identified a heterozygous germline mutation in the GNAS1 gene (139320.0027). </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Adegbite et al. (2008) reviewed the charts of 111 individuals with cutaneous and subcutaneous ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms, such as POH, from the nonprogressive forms, such as PPHP and pseudohypoparathyroidism types Ia (103580) and Ic (612462). </p>
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<strong>History</strong>
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<span class="mim-text-font">
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<p>Maclean et al. (1966) described a mother and daughter with multifocal connective tissue ossification. The daughter was a 7-year-old mentally retarded girl of normal stature. These cases may have represented pseudopseudohypoparathyroidism (PPHP; 612463). </p>
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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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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Adegbite, N. S., Xu, M., Kaplan, F. S., Shore, E. M., Pignolo, R. J.
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<strong>Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.</strong>
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Am. J. Med. Genet. 146A: 1788-1796, 2008.
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[PubMed: 18553568]
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[Full Text: https://doi.org/10.1002/ajmg.a.32346]
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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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Athanasou, N. A., Benson, M. K. D'A., Brenton, D. P., Smith, R.
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<strong>Progressive osseous heteroplasia: a case report.</strong>
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Bone 15: 471-475, 1994.
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[PubMed: 7980957]
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[Full Text: https://doi.org/10.1016/8756-3282(94)90269-0]
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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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Bastepe, M., Juppner, H.
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<strong>GNAS locus and pseudohypoparathyroidism.</strong>
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Horm. Res. 63: 65-74, 2005.
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[PubMed: 15711092]
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[Full Text: https://doi.org/10.1159/000083895]
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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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Brook, C. G. D., Valman, H. B.
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<strong>Osteoma cutis and Albright's hereditary osteodystrophy.</strong>
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Brit. J. Derm. 85: 471-475, 1971.
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[PubMed: 5002319]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1971.tb14056.x]
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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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Eddy, M. C., Jan de Beur, S. M., Yandow, S. M., McAlister, W. H., Shore, E. M., Kaplan, F. S., Whyte, M. P., Levine, M. A.
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<strong>Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.</strong>
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J. Bone Miner. Res. 15: 2074-2083, 2000.
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[PubMed: 11092390]
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[Full Text: https://doi.org/10.1359/jbmr.2000.15.11.2074]
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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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Faust, R. A., Shore, E. M., Stevens, C. E., Xu, M., Shah, S., Phillips, C. D., Kaplan, F. S.
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<strong>Progressive osseous heteroplasia in the face of a child.</strong>
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Am. J. Med. Genet. 118A: 71-75, 2003.
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[PubMed: 12605446]
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[Full Text: https://doi.org/10.1002/ajmg.a.10170]
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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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Fawcett, H. A., Marsden, R. A.
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<strong>Hereditary osteoma cutis.</strong>
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J. Roy. Soc. Med. 76: 697-699, 1983.
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[PubMed: 6887189]
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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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Gardner, R. J. M., Yun, K., Craw, S. M.
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<strong>Familial ectopic ossification.</strong>
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J. Med. Genet. 25: 113-117, 1988.
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[PubMed: 3126297]
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[Full Text: https://doi.org/10.1136/jmg.25.2.113]
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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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Izraeli, S., Metzker, A., Horev, G., Karmi, D., Merlob, P., Farfel, Z.
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<strong>Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.</strong>
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Am. J. Med. Genet. 43: 764-767, 1992.
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[PubMed: 1621772]
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[Full Text: https://doi.org/10.1002/ajmg.1320430424]
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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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Kaplan, F. S.
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<strong>Personal Communication.</strong>
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Philadelphia, Pa. 10/30/2000.
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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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Kaplan, F. S., Craver, R., MacEwen, G. D., Gannon, F. H., Finkel, G., Hahn, G., Tabas, J., Gardner, R. J. M., Zasloff, M. A.
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<strong>Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification: two new case reports and follow-up of three previously reported cases.</strong>
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J. Bone Joint Surg. Am. 76: 425-436, 1994.
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[PubMed: 8126048]
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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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Maclean, G. D., Main, R. A., Anderson, T. E., Best, P. V.
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<strong>Connective tissue ossification presenting in the skin.</strong>
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Arch. Derm. 94: 168-174, 1966.
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[PubMed: 5911503]
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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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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1989.
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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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Peterson, W. C., Jr., Mandel, S. L.
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<strong>Primary osteomas of skin.</strong>
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Arch. Derm. 87: 626-632, 1963.
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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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Rosenfeld, S. R., Kaplan, F. S.
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<strong>Progressive osseous heteroplasia in male patients: two new case reports.</strong>
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Clin. Orthop. Rel. Res. 317: 243-245, 1995.
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[PubMed: 7671486]
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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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Schmidt, A. H., Vincent, K. A., Aiona, M. D.
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<strong>Hemimelic progressive osseous heteroplasia: a case report.</strong>
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J. Bone Joint Surg. Am. 76: 907-912, 1994.
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[PubMed: 8200899]
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[Full Text: https://doi.org/10.2106/00004623-199406000-00016]
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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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Shore, E. M., Ahn, J., Jan de Beur, S., Li, M., Xu, M., Gardiner, R. J. M., Zasloff, M. A., Whyte, M. P., Levine, M. A., Kaplan, F. S.
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<strong>Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.</strong>
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New Eng. J. Med. 346: 99-106, 2002. Note: Erratum: New Eng. J. Med. 346: 1678 only, 2002.
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[PubMed: 11784876]
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[Full Text: https://doi.org/10.1056/NEJMoa011262]
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<li>
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<p class="mim-text-font">
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Stoll, C., Javier, M.-R., Bellocq, J.-P.
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<strong>Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues.</strong>
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Ann. Genet. 43: 75-80, 2000.
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[PubMed: 10998448]
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[Full Text: https://doi.org/10.1016/s0003-3995(00)00020-4]
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Urtizberea, J. A., Testart, H., Cartault, F., Boccon-Gibod, L., Le Merrer, M., Kaplan, F. S.
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<strong>Progressive osseous heteroplasia: report of a family.</strong>
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J. Bone Joint Surg. Br. 80: 768-771, 1998.
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[PubMed: 9768883]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Nara Sobreira - updated : 6/17/2009<br>Cassandra L. Kniffin - updated : 12/15/2008<br>Cassandra L. Kniffin - reorganized : 2/28/2008<br>Victor A. McKusick - updated : 4/16/2003<br>Victor A. McKusick - updated : 1/15/2002<br>Victor A. McKusick - updated : 2/13/2001<br>Victor A. McKusick - updated : 10/30/2000
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Creation Date:
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Victor A. McKusick : 6/2/1986
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Edit History:
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carol : 10/01/2013<br>terry : 4/4/2013<br>terry : 1/13/2011<br>carol : 6/18/2009<br>terry : 6/17/2009<br>carol : 12/19/2008<br>ckniffin : 12/15/2008<br>carol : 3/26/2008<br>carol : 2/28/2008<br>ckniffin : 2/19/2008<br>ckniffin : 8/27/2003<br>tkritzer : 4/25/2003<br>terry : 4/16/2003<br>carol : 2/27/2003<br>terry : 4/4/2002<br>carol : 1/31/2002<br>mcapotos : 1/17/2002<br>terry : 1/15/2002<br>carol : 2/15/2001<br>cwells : 2/15/2001<br>cwells : 2/14/2001<br>terry : 2/13/2001<br>carol : 10/30/2000<br>terry : 10/24/1995<br>mimadm : 1/14/1995<br>davew : 7/1/1994<br>jason : 6/15/1994<br>carol : 7/16/1992<br>supermim : 3/16/1992
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