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Entry
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- #131300 - CAMURATI-ENGELMANN DISEASE; CAEND
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- OMIM
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<p>
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<span class="h4">#131300</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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<li role="presentation">
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<a href="/clinicalSynopsis/131300"><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="#clinicalManagement">Clinical Management</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CAMURATI-ENGELMANN DISEASE" 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=1551&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/NBK1156/" 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/8235" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=131300[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=1328" 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/adf4df27-be68-4573-9c44-a988f0d19c04/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:4997" 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/131300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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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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<div>
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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> 34643004<br />
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<strong>ICD10CM:</strong> Q78.3<br />
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<strong>ORPHA:</strong> 1328<br />
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<strong>DO:</strong> 4997<br />
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">ICD+</a>
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</div>
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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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131300
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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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CAMURATI-ENGELMANN DISEASE; CAEND
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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">
|
|
CED<br />
|
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ENGELMANN DISEASE<br />
|
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DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1<br />
|
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PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD
|
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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">
|
|
<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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</th>
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</tr>
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</thead>
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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/19/726?start=-3&limit=10&highlight=726">
|
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19q13.2
|
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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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Camurati-Engelmann disease
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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/131300"> 131300 </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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</td>
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<td>
|
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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>
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</td>
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<td>
|
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<span class="mim-font">
|
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TGFB1
|
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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/190180"> 190180 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/131300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/131300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/131300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Asthenic habitus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850573</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001533</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001533</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Exophthalmos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span><br /> -
|
|
Optic nerve compression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72983001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72983001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.09" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.09</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271344&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271344</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007807" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007807</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007807" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007807</a>]</span><br /> -
|
|
Diplopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24982008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24982008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012569&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012569</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000651</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000651</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dental caries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sclerosis of skull base <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851714&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851714</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002694" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002694</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002694" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002694</a>]</span><br /> -
|
|
Mandible involvement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851608</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sclerosis of posterior part of vertebrae (body and arches) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851609</a>]</span><br /> -
|
|
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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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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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Progressive diaphyseal widening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851610</a>]</span><br /> -
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Thickened cortices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851611</a>]</span><br /> -
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Narrowing of medullary canal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851612&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851612</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032458</a>]</span><br /> -
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Erlenmeyer flask defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851613</a>]</span><br /> -
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Genu varus deformity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675694&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675694</a>]</span><br /> -
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Genu valgum deformity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805557</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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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>
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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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- Relative muscle weakness, especially in pelvic girdle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805556</a>]</span><br /> -
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Atrophic muscle fiber on biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851616</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Central Nervous System </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Headaches <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25064002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25064002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R51.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
- Delayed puberty <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400003000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400003000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123526007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123526007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E30.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E30.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034012</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Bone marrow hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/307762000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">307762000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416995001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416995001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/167928002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">167928002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855710</a>, <a href="https://bioportal.bioontology.org/search?q=C0151773&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151773</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005528</a>]</span><br /> -
|
|
Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Waddling gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271706000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271706000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231712</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span><br /> -
|
|
Leg pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10601006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10601006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.669</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.606" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.606</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023222</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012514</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012514</a>]</span><br /> -
|
|
Onset in childhood<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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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>
|
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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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|
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- Caused by mutations in the beta-1 transforming growth factor gene (TGFB1, <a href="/entry/190180#0001">190180.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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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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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Camurati-Engelmann disease results from domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1; <a href="/entry/190180">190180</a>) on chromosome 19q13. Also see Camurati-Engelmann disease type 2 (<a href="/entry/606631">606631</a>) in which no mutation in the TGFB1 gene has been found.</p>
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</span>
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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="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally (summary by <a href="#16" class="mim-tip-reference" title="Janssens, K., Vanhoenacker, F., Bonduelle, M., Verbruggen, L., Van Maldergem, L., Ralston, S., Guanabens, N., Migone, N., Wientroub, S., Divizia, M. T., Bergmann, C., Bennett, C., Simsek, S., Melancon, S., Cundy, T., Van Hul, W. <strong>Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.</strong> J. Med. Genet. 43: 1-11, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15894597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15894597</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15894597[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/10.1136/jmg.2005.033522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15894597">Janssens et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15894597" 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="#3" class="mim-tip-reference" title="Camurati, M. <strong>Di uno raro caso di osteite simmetrica ereditaria degli arti inferiori.</strong> Chir. Organi Mov. 6: 662-665, 1922."None>Camurati (1922)</a> of Bologna described a rare type of 'symmetrical hereditary osteitis' involving the lower limbs in a father and son and several others in a total of 4 generations. Pain in the legs and fusiform swelling of the legs below the knees were noted. <a href="#8" class="mim-tip-reference" title="Engelmann, G. <strong>Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis.</strong> Fortschr. Geb. Roentgenstr. Nukl. 39: 1101-1106, 1929."None>Engelmann (1929)</a> of Vienna reported an isolated case of 'osteopathica hyperostotica (sclerotisans) multiplex infantilis.' The disorder is sometimes called Camurati-Engelmann disease in recognition of the earlier description. <a href="#6" class="mim-tip-reference" title="Cockayne, E. A. <strong>Case for diagnosis.</strong> Proc. Roy. Soc. Med. 13: 132-136, 1920.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19981348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19981348</a>]" pmid="19981348">Cockayne (1920)</a> described a probable case before the publications of Camurati and Engelmann. The nature of the condition and the possibility that it represented syphilitic osteitis were discussed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19981348" 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="Lennon, E. A., Schechter, M. M., Hornabrook, R. W. <strong>Engelmann's disease. Report of a case with review of the literature.</strong> J. Bone Joint Surg. 43B: 273-284, 1961."None>Lennon et al. (1961)</a> described a case of Engelmann disease and reviewed the literature. Gross thickening of the cortex of bones, both on the periosteal surface and in the medullary canal, is characteristic. The process usually begins in the shaft of the femur or tibia but spreads to involve all bones. Onset is usually before age 30 years, often before age 10. All races and both sexes are affected. Nine examples of familial occurrence in 1 or 2 generations were mentioned. Severe bone pains, especially in the legs, and muscular hypoplasia are the distinctive features of this form of sclerotic bone disease. The bones of the base of the skull and rarely the mandible may be affected. The skeletal disorder is often associated with muscular weakness, peculiar gait, pains in the legs, fatigability, and apparent undernutrition. The muscular weakness is not necessarily progressive and typical bone changes may be found in asymptomatic persons. Because of the associated features, muscular dystrophy or poliomyelitis is sometimes diagnosed in these patients.</p><p>The condition described by Ribbing and in the past sometimes referred to as Ribbing disease (<a href="/entry/601477">601477</a>) has been considered by some to be Engelmann disease. <a href="#24" class="mim-tip-reference" title="Ribbing, S. <strong>Hereditary, multiple, diaphyseal sclerosis.</strong> Acta Radiol. 31: 522-536, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18138014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18138014</a>] [<a href="https://doi.org/10.3109/00016924909138232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18138014">Ribbing (1949)</a> described a family in which 4 of 6 sibs were affected. The diaphyseal osteosclerosis and hyperostosis were limited to one or more (up to 4) of the long bones, the tibia being affected in all. The father, who was dead, had complained for many years of pains in the legs. Thus, the condition may be dominant; no x-ray studies of the father were available and <a href="#24" class="mim-tip-reference" title="Ribbing, S. <strong>Hereditary, multiple, diaphyseal sclerosis.</strong> Acta Radiol. 31: 522-536, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18138014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18138014</a>] [<a href="https://doi.org/10.3109/00016924909138232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18138014">Ribbing (1949)</a> noted that the body had been cremated. <a href="#22" class="mim-tip-reference" title="Paul, L. W. <strong>Hereditary multiple diaphyseal sclerosis (Ribbing).</strong> Radiology 60: 412-416, 1953.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13038037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13038037</a>] [<a href="https://doi.org/10.1148/60.3.412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13038037">Paul (1953)</a> reported the same entity in 2 of 4 sibs, one of whom also had otosclerosis, which was present in several other members of the kindred. In an addendum, Paul noted that the infant son of one of his patients had difficulty walking and was found to have multiple sclerosing lesions of long bones. Again dominant inheritance was suggested. <a href="#24" class="mim-tip-reference" title="Ribbing, S. <strong>Hereditary, multiple, diaphyseal sclerosis.</strong> Acta Radiol. 31: 522-536, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18138014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18138014</a>] [<a href="https://doi.org/10.3109/00016924909138232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18138014">Ribbing (1949)</a> referred to the condition described as hereditary multiple diaphyseal sclerosis (rather than dysplasia), and the same term was used by <a href="#22" class="mim-tip-reference" title="Paul, L. W. <strong>Hereditary multiple diaphyseal sclerosis (Ribbing).</strong> Radiology 60: 412-416, 1953.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13038037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13038037</a>] [<a href="https://doi.org/10.1148/60.3.412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13038037">Paul (1953)</a> and <a href="#9" class="mim-tip-reference" title="Furia, J. P., Schwartz, H. S. <strong>Hereditary multiple diaphyseal sclerosis: a tumor simulator.</strong> Orthopedics 13: 1267-1274, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2259666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2259666</a>] [<a href="https://doi.org/10.3928/0147-7447-19901101-16" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2259666">Furia and Schwartz (1990)</a>. <a href="#27" class="mim-tip-reference" title="Seeger, L. L., Hewel, K. C., Yao, L., Gold, R. H., Mirra, J. M., Chandnani, V. P., Eckardt, J. J. <strong>Ribbing disease (multiple diaphyseal sclerosis): imaging and differential diagnosis.</strong> Am. J. Roentgen. 167: 689-694, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751682</a>] [<a href="https://doi.org/10.2214/ajr.167.3.8751682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8751682">Seeger et al. (1996)</a> insisted that Ribbing disease is a disorder separate from Engelmann disease. Although it may appear to be identical radiographically, many clinical differences exist. Camurati-Engelmann disease presents during childhood, whereas Ribbing disease was thought by <a href="#27" class="mim-tip-reference" title="Seeger, L. L., Hewel, K. C., Yao, L., Gold, R. H., Mirra, J. M., Chandnani, V. P., Eckardt, J. J. <strong>Ribbing disease (multiple diaphyseal sclerosis): imaging and differential diagnosis.</strong> Am. J. Roentgen. 167: 689-694, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751682</a>] [<a href="https://doi.org/10.2214/ajr.167.3.8751682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8751682">Seeger et al. (1996)</a> to present in middle age. (They wrote: 'patients contract Ribbing disease after puberty.') The disease is confined to the diaphyses of long bones, especially the tibia and the femur. Whereas Engelmann disease is bilateral and symmetric, Ribbing disease is either unilateral or asymmetric and asynchronously bilateral. In Engelmann disease, the skull is involved as well as the long bones. The gait and neurologic abnormalities and anemia with extramedullary hematopoiesis occurs only in Engelmann disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18138014+2259666+8751682+13038037" 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="#20" class="mim-tip-reference" title="Makita, Y., Nishimura, G., Ikegawa, S., Ishii, T., Ito, Y., Okuno, A. <strong>Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?</strong> Am. J. Med. Genet. 91: 153-156, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10748417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10748417</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000313)91:2<153::aid-ajmg15>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10748417">Makita et al. (2000)</a> reported a 3-generation Japanese family with Engelmann disease with a wide variation in phenotype among the affected family members. Of the 12 patients, 7 had full manifestations of Engelmann disease, while the other 5 exhibited only segmental (rhizomelic and/or mesomelic) involvement and asymmetric diaphyseal sclerosis without any clinical symptoms, resembling Ribbing disease. The authors proposed that Engelmann disease and Ribbing disease represent phenotypic variation of the same disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10748417" 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="#7" class="mim-tip-reference" title="Crisp, A. J., Brenton, D. P. <strong>Engelmann's disease of bone--a systemic disorder?</strong> Ann. Rheum. Dis. 41: 183-188, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7073346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7073346</a>] [<a href="https://doi.org/10.1136/ard.41.2.183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7073346">Crisp and Brenton (1982)</a> emphasized systemic manifestations in Engelmann disease: anemia, leukopenia, hepatosplenomegaly, and raised erythrocyte sedimentation rate. Their patient also had the Raynaud phenomenon and multiple nail-fold infarcts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7073346" 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="#5" class="mim-tip-reference" title="Clybouw, C., Desmyttere, S., Bonduelle, M., Piepsz, A. <strong>Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling.</strong> Genet. Counsel. 5: 195-198, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7917133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7917133</a>]" pmid="7917133">Clybouw et al. (1994)</a> reported a 10-year-old girl with characteristic clinical and roentgenologic manifestations of Camurati-Engelmann disease. Scintigraphy with 99mTc showed increased osteoblastic activity in the diaphyseal portions of almost all long bones. Clinical and roentgenologic investigations of her parents produced normal results, but a clear focus of osteoblastic hyperactivity was demonstrated scintigraphically at the base of the skull of the proband's mother. Some persons with Camurati-Engelmann disease may have subclinical manifestations. According to <a href="#5" class="mim-tip-reference" title="Clybouw, C., Desmyttere, S., Bonduelle, M., Piepsz, A. <strong>Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling.</strong> Genet. Counsel. 5: 195-198, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7917133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7917133</a>]" pmid="7917133">Clybouw et al. (1994)</a>, a detailed study including x-ray examination and scintigraphy is necessary for genetic counseling in apparently sporadic cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7917133" 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="#12" class="mim-tip-reference" title="Grey, A. C., Wallace, R., Crone, M. <strong>Engelmann's disease: a 45-year follow-up.</strong> J. Bone Joint Surg. Br. 78: 488-491, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636193</a>]" pmid="8636193">Grey et al. (1996)</a> provided a 45-year follow-up on a patient with Engelmann disease initially described by <a href="#31" class="mim-tip-reference" title="Stronge, R. F., McDowell, H. B. <strong>A case of Engelmann's disease: progressive diaphysial dysplasia.</strong> J. Bone Joint Surg. Br. 32: 38-39, 1950."None>Stronge and McDowell (1950)</a> when he was 28 years of age. The disease had shown progression over the subsequent 45 years, characterized by the unique involvement of the femoral capital epiphyses. The patient had changed little in physical appearance, apart from aging. He was thin and tall with generalized underdevelopment and weakness of the muscles, particularly around the pelvic girdle and thighs. The legs were bowed and the lumbar lordosis had increased. Serum alkaline phosphatase levels had remained normal. In 1950 the disease involved only the diaphyses of the affected limbs. By 45 years later it had affected the metaphyses of all limbs, the epiphyses, and the articular surfaces of the femoral heads and acetabula, as well as the right tibial epiphysis. The spine and hands, unaffected in 1950, showed changes and there was some progression of the disease in the skull. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8636193" 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="#26" class="mim-tip-reference" title="Saraiva, J. M. <strong>Anticipation in progressive diaphyseal dysplasia. (Letter)</strong> J. Med. Genet. 37: 394-395, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10905898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10905898</a>] [<a href="https://doi.org/10.1136/jmg.37.5.394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10905898">Saraiva (2000)</a> described anticipation as judged by age of onset of symptoms in successive generations of a large family with 15 affected members in 3 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10905898" 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="#33" class="mim-tip-reference" title="Wallace, S. E., Lachman, R. S., Mekikian, P. B., Bui, K. K., Wilcox, W. R. <strong>Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.</strong> Am. J. Med. Genet. 129A: 235-247, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326622</a>] [<a href="https://doi.org/10.1002/ajmg.a.30148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15326622">Wallace et al. (2004)</a> reported a 4-generation pedigree with 7 individuals affected by CED. The pedigree demonstrated autosomal dominant inheritance but with remarkable variation in expressivity and reduced penetrance. The most severely affected individual had progression of mild skull hyperostosis to severe skull thickening and cranial nerve compression over 30 years. His carrier father, on the other hand, remained asymptomatic into his ninth decade and had no radiographic hyperostosis or sclerosis of the bones. Symptomatic relatives presented with lower limb pain and weakness. They were initially diagnosed with a variety of other conditions. Two of the symptomatic individuals were treated successfully with prednisone. Linkage to 19q13.1-q13.3 was confirmed. The arg218-to-his mutation in the TGFB1 gene (R218H; <a href="/entry/190180#0003">190180.0003</a>) was identified in the affected individuals, the asymptomatic obligate carrier, and in another unaffected relative. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15326622" 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="Janssens, K., Vanhoenacker, F., Bonduelle, M., Verbruggen, L., Van Maldergem, L., Ralston, S., Guanabens, N., Migone, N., Wientroub, S., Divizia, M. T., Bergmann, C., Bennett, C., Simsek, S., Melancon, S., Cundy, T., Van Hul, W. <strong>Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.</strong> J. Med. Genet. 43: 1-11, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15894597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15894597</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15894597[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/10.1136/jmg.2005.033522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15894597">Janssens et al. (2006)</a> reported 41 individuals with CED confirmed by genetic analysis from 14 families and provided a detailed review of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15894597" 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="#11" class="mim-tip-reference" title="Girdany, B. R. <strong>Engelmann's disease (progressive diaphyseal dysplasia)--a nonprogressive familial form of muscular dystrophy with characteristic bone changes.</strong> Clin. Orthop. 14: 102-109, 1959."None>Girdany (1959)</a> described a family with 6 affected persons in 3 generations (no male-to-male transmission). A case reported by <a href="#29" class="mim-tip-reference" title="Singleton, E. B., Thomas, J. R., Worthington, W. W., Hild, J. R. <strong>Progressive diaphyseal dysplasia (Engelmann's disease).</strong> Radiology 67: 233-240, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13350520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13350520</a>] [<a href="https://doi.org/10.1148/67.2.233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13350520">Singleton et al. (1956)</a> had strikingly similar clinical features. Restudy indicated that 3 generations were affected in that family also (<a href="#28" class="mim-tip-reference" title="Singleton, E. B. <strong>Personal Communication.</strong> Houston, Tex. 1967."None>Singleton, 1967</a>). Father and 2 children (son and daughter) were affected in a family reported by <a href="#23" class="mim-tip-reference" title="Ramon, Y., Buchner, A. <strong>Camurati-Engelmann's disease affecting the jaws.</strong> Oral Surg. 22: 592-599, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5223066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5223066</a>] [<a href="https://doi.org/10.1016/0030-4220(66)90162-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5223066">Ramon and Buchner (1966)</a>. The father was much more severely affected than the offspring. <a href="#1" class="mim-tip-reference" title="Allen, D. T., Saunders, A. M., Northway, W. H., Jr., Williams, G. F., Schafer, I. A. <strong>Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia.</strong> Pediatrics 46: 523-531, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5503688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5503688</a>]" pmid="5503688">Allen et al. (1970)</a> presented a family in which 11 persons in 3 generations were known to have been affected. <a href="#30" class="mim-tip-reference" title="Sparkes, R. S., Graham, C. B. <strong>Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.</strong> J. Med. Genet. 9: 73-85, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5025487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5025487</a>] [<a href="https://doi.org/10.1136/jmg.9.1.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5025487">Sparkes and Graham (1972)</a> reported a remarkable family with many affected persons in several successive generations. A particularly remarkable feature was lack of penetrance in persons who must have had the gene but, as adults at any rate, showed no abnormality by x-ray. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13350520+5025487+5503688+5223066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The beneficial effects of corticosteroids were apparently first described by <a href="#25" class="mim-tip-reference" title="Royer, P., Vermeil, G., Apostolides, P., Engelmann, F. <strong>Maladie d'Engelmann: resultat du traitement par la prednisone.</strong> Arch. Franc. Pediat. 24: 693-702, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4860416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4860416</a>]" pmid="4860416">Royer et al. (1967)</a>, followed shortly by <a href="#1" class="mim-tip-reference" title="Allen, D. T., Saunders, A. M., Northway, W. H., Jr., Williams, G. F., Schafer, I. A. <strong>Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia.</strong> Pediatrics 46: 523-531, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5503688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5503688</a>]" pmid="5503688">Allen et al. (1970)</a> and by <a href="#19" class="mim-tip-reference" title="Lindstrom, J. A. <strong>Diaphyseal dysplasia (Engelmann) treated with corticosteroids.</strong> Birth Defects Orig. Art. Ser. X(12): 504-507, 1974."None>Lindstrom (1974)</a>. <a href="#21" class="mim-tip-reference" title="Minford, A. M. B., Hardy, G. J., Forsythe, W. I., Fitton, J. M., Rowe, V. L. <strong>Engelmann's disease and the effect of corticosteroids: a case report.</strong> J. Bone Joint Surg. Br. 63: 597-600, 1981."None>Minford et al. (1981)</a> noted not only relief from pain but also return of radiologic findings toward normal during treatment with corticosteroids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5503688+4860416" 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="#2" class="mim-tip-reference" title="Campos-Xavier, A. B., Saraiva, J. M., Savarirayan, R., Verloes, A., Feingold, J., Faivre, L., Munnich, A., Le Merrer, M., Cormier-Daire, V. <strong>Phenotypic variability at the TGF-beta-1 locus in Camurati-Engelmann disease.</strong> Hum. Genet. 109: 653-658, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810278</a>] [<a href="https://doi.org/10.1007/s00439-001-0644-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810278">Campos-Xavier et al. (2001)</a> stated that 5 mutations in the TGFB1 gene had been identified in 21 families with CED. In 1 Australian family and 6 European families with CED, they found 3 of these mutations, R218H (<a href="/entry/190180#0002">190180.0002</a>) in 1 family, R218C (<a href="/entry/190180#0003">190180.0003</a>) in 3 families, and C225R (<a href="/entry/190180#0001">190180.0001</a>) in 3 families, which had previously been observed in families of Japanese and Israeli origin. The R218C mutation appeared to be the most prevalent worldwide, having been found in 17 of 28 reported families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810278" 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="#2" class="mim-tip-reference" title="Campos-Xavier, A. B., Saraiva, J. M., Savarirayan, R., Verloes, A., Feingold, J., Faivre, L., Munnich, A., Le Merrer, M., Cormier-Daire, V. <strong>Phenotypic variability at the TGF-beta-1 locus in Camurati-Engelmann disease.</strong> Hum. Genet. 109: 653-658, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810278</a>] [<a href="https://doi.org/10.1007/s00439-001-0644-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810278">Campos-Xavier et al. (2001)</a> found no obvious correlation between the nature of TGFB1 mutations and the severity of the clinical manifestations of CED, but observed a marked intrafamilial clinical variability, supporting incomplete penetrance of CED. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Xavier, A. B. C. F., Saraiva, J. M., Le Merrer, M., Dagoneau, N., Huber, C., Penet, C., Munnich, A., Cormier-Daire, V. <strong>Genetic homogeneity of the Camurati-Engelmann disease. (Letter)</strong> Clin. Genet. 58: 150-152, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11005150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11005150</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.580211.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11005150">Xavier et al. (2000)</a> suggested that DPD1 is genetically homogeneous; however, <a href="#13" class="mim-tip-reference" title="Hecht, J. T., Blanton, S. H., Broussard, S., Scott, A., Hall, C. R., Milunsky, J. M. <strong>Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) syndrome. (Letter)</strong> Clin. Genet. 59: 198-200, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11260231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11260231</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.590310.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11260231">Hecht et al. (2001)</a> excluded the TGFB1 gene as the site of mutation in a DPD1 family, thus indicating the existence of at least one other form. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11005150+11260231" 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>Also see Camurati-Engelmann disease type II (<a href="/entry/606631">606631</a>) in which no mutation in the TGFB1 gene has been found.</p>
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<p><a href="#10" class="mim-tip-reference" title="Ghadami, M., Makita, Y., Yoshida, K., Nishimura, G., Fukushima, Y., Wakui, K., Ikegawa, S., Yamada, K., Kondo, S., Niikawa, N., Tomita, H. <strong>Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.</strong> Am. J. Hum. Genet. 66: 143-147, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 753 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10631145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10631145</a>] [<a href="https://doi.org/10.1086/302728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10631145">Ghadami et al. (2000)</a> performed a genomewide linkage analysis of 2 unrelated Japanese families with CED, in which a total of 27 members were available for study; 16 of them were affected with CED. Two-point linkage analysis showed a maximum lod score of 7.41 (recombination fraction 0.00; penetrance = 1.00) for the D19S918 microsatellite marker locus. Haplotype analysis revealed that all the affected individuals shared a common haplotype observed, in each family, between D19S881 and D19S606, at 19q13.1-q13.3 (within a genetic interval of 15.1 cM). This linkage was confirmed by <a href="#15" class="mim-tip-reference" title="Janssens, K., Gershoni-Baruch, R., Van Hul, E., Brik, R., Guanabens, N., Migone, N., Verbruggen, L. A., Ralston, S. H., Bonduelle, M., Van Maldergem, L., Vanhoenacker, F., Van Hul, W. <strong>Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.</strong> J. Med. Genet. 37: 245-249, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10745041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10745041</a>] [<a href="https://doi.org/10.1136/jmg.37.4.245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10745041">Janssens et al. (2000)</a> and <a href="#32" class="mim-tip-reference" title="Vaughn, S. P., Broussard, S., Hall, C. R., Scott, A., Blanton, S. H., Milunsky, J. M., Hecht, J. T. <strong>Confirmation of the mapping of the Camurati-Engelmann locus to 19q13.2 and refinement to a 3.2-cM region.</strong> Genomics 66: 119-121, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10843814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10843814</a>] [<a href="https://doi.org/10.1006/geno.2000.6192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10843814">Vaughn et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10631145+10843814+10745041" 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>Because the transforming growth factor-beta-1 gene (TGFB1; <a href="/entry/190180">190180</a>) maps to the same region of chromosome 19, <a href="#17" class="mim-tip-reference" title="Kinoshita, A., Saito, T., Tomita, H., Makita, Y., Yoshida, K., Ghadami, M., Yamada, K., Kondo, S., Ikegawa, S., Nishimura, G., Fukushima, Y., Nakagomi, T., Saito, H., Sugimoto, T., Kamegaya, M., Hisa, K., Murray, J. C., Taniguchi, N., Niikawa, N., Yoshiura, K. <strong>Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.</strong> Nature Genet. 26: 19-20, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973241</a>] [<a href="https://doi.org/10.1038/79128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973241">Kinoshita et al. (2000)</a> screened it for mutations in Camurati-Engelmann disease in 7 unrelated Japanese families and 2 families of European descent. They detected 3 different heterozygous missense mutations in exon 4, near the carboxy terminus of the latency-associated peptide (LAP), in all 9 families examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Clawson1964" class="mim-tip-reference" title="Clawson, D. K., Loop, J. W. <strong>Progressive diaphyseal dysplasia (Engelmann's disease).</strong> J. Bone Joint Surg. Am. 46: 143-150, 1964.">Clawson and Loop (1964)</a>; <a href="#Hundley1973" class="mim-tip-reference" title="Hundley, J. D., Wilson, F. C. <strong>Progressive diaphyseal dysplasia: review of the literature and report of seven cases in one family.</strong> J. Bone Joint Surg. 55A: 461-474, 1973.">Hundley and Wilson (1973)</a>; <a href="#Yoshioka1980" class="mim-tip-reference" title="Yoshioka, H., Mino, M., Kiyosawa, N., Hirasawa, Y., Morikawa, Y., Kasubuchi, Y., Kusunoki, T. <strong>Muscular changes in Engelmann's disease.</strong> Arch. Dis. Child. 55: 716-719, 1980.">Yoshioka et al.
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[<a href="https://doi.org/10.1086/302728" target="_blank">Full Text</a>]
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<strong>Engelmann's disease and the effect of corticosteroids: a case report.</strong>
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J. Bone Joint Surg. Br. 63: 597-600, 1981.
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<a id="22" class="mim-anchor"></a>
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<a id="Paul1953" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Paul, L. W.
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<strong>Hereditary multiple diaphyseal sclerosis (Ribbing).</strong>
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Radiology 60: 412-416, 1953.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13038037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13038037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13038037" 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/10.1148/60.3.412" target="_blank">Full Text</a>]
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<a id="Ramon1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ramon, Y., Buchner, A.
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<strong>Camurati-Engelmann's disease affecting the jaws.</strong>
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Oral Surg. 22: 592-599, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5223066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5223066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5223066" 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/10.1016/0030-4220(66)90162-9" target="_blank">Full Text</a>]
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</p>
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<a id="24" class="mim-anchor"></a>
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<a id="Ribbing1949" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ribbing, S.
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<strong>Hereditary, multiple, diaphyseal sclerosis.</strong>
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Acta Radiol. 31: 522-536, 1949.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18138014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18138014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18138014" 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/10.3109/00016924909138232" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Royer1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Royer, P., Vermeil, G., Apostolides, P., Engelmann, F.
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<strong>Maladie d'Engelmann: resultat du traitement par la prednisone.</strong>
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Arch. Franc. Pediat. 24: 693-702, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4860416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4860416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4860416" 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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<a id="26" class="mim-anchor"></a>
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<a id="Saraiva2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Saraiva, J. M.
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<strong>Anticipation in progressive diaphyseal dysplasia. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10905898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10905898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10905898" 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.37.5.394" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Seeger1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Ribbing disease (multiple diaphyseal sclerosis): imaging and differential diagnosis.</strong>
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Am. J. Roentgen. 167: 689-694, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751682" 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/10.2214/ajr.167.3.8751682" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
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<a id="Singleton1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Singleton, E. B.
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<strong>Personal Communication.</strong>
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Houston, Tex. 1967.
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<a id="Singleton1956" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Singleton, E. B., Thomas, J. R., Worthington, W. W., Hild, J. R.
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<strong>Progressive diaphyseal dysplasia (Engelmann's disease).</strong>
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Radiology 67: 233-240, 1956.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13350520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13350520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13350520" 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/10.1148/67.2.233" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Sparkes1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sparkes, R. S., Graham, C. B.
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<strong>Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.</strong>
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J. Med. Genet. 9: 73-85, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5025487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5025487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5025487" 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.9.1.73" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Stronge1950" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stronge, R. F., McDowell, H. B.
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<strong>A case of Engelmann's disease: progressive diaphysial dysplasia.</strong>
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J. Bone Joint Surg. Br. 32: 38-39, 1950.
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<a id="32" class="mim-anchor"></a>
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<a id="Vaughn2000" class="mim-anchor"></a>
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Vaughn, S. P., Broussard, S., Hall, C. R., Scott, A., Blanton, S. H., Milunsky, J. M., Hecht, J. T.
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<strong>Confirmation of the mapping of the Camurati-Engelmann locus to 19q13.2 and refinement to a 3.2-cM region.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10843814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10843814</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10843814" 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/10.1006/geno.2000.6192" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
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<a id="Wallace2004" class="mim-anchor"></a>
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Wallace, S. E., Lachman, R. S., Mekikian, P. B., Bui, K. K., Wilcox, W. R.
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<strong>Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.</strong>
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Am. J. Med. Genet. 129A: 235-247, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15326622" 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.30148" target="_blank">Full Text</a>]
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Xavier, A. B. C. F., Saraiva, J. M., Le Merrer, M., Dagoneau, N., Huber, C., Penet, C., Munnich, A., Cormier-Daire, V.
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<strong>Genetic homogeneity of the Camurati-Engelmann disease. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11005150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11005150</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11005150" 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/10.1034/j.1399-0004.2000.580211.x" target="_blank">Full Text</a>]
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<a id="35" class="mim-anchor"></a>
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<a id="Yoshioka1980" class="mim-anchor"></a>
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<p class="mim-text-font">
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Yoshioka, H., Mino, M., Kiyosawa, N., Hirasawa, Y., Morikawa, Y., Kasubuchi, Y., Kusunoki, T.
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<strong>Muscular changes in Engelmann's disease.</strong>
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Arch. Dis. Child. 55: 716-719, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7436538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7436538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7436538" 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/adc.55.9.716" target="_blank">Full Text</a>]
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<br />
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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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Cassandra L. Kniffin - updated : 2/10/2006
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 9/22/2004<br>Victor A. McKusick - updated : 1/17/2002<br>Carol A. Bocchini - reorganized : 1/16/2002<br>Victor A. McKusick - updated : 8/2/2001<br>Michael J. Wright - updated : 7/20/2001<br>Victor A. McKusick - updated : 8/28/2000<br>Sonja A. Rasmussen - updated : 4/24/2000<br>Victor A. McKusick - updated : 1/3/2000<br>Iosif W. Lurie - updated : 7/17/1996
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<a id="creationDate" class="mim-anchor"></a>
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Victor A. McKusick : 6/4/1986
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carol : 07/10/2012
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<span class="mim-font">
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<strong>#</strong> 131300
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</span>
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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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CAMURATI-ENGELMANN DISEASE; CAEND
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</span>
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</h3>
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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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</p>
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<div>
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<h4>
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<span class="mim-font">
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CED<br />
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ENGELMANN DISEASE<br />
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DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1<br />
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PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD
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</h4>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 34643004;
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<strong>ICD10CM:</strong> Q78.3;
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<strong>ORPHA:</strong> 1328;
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<strong>DO:</strong> 4997;
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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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</th>
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</tr>
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</thead>
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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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19q13.2
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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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Camurati-Engelmann disease
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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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131300
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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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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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TGFB1
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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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190180
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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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 of evidence that Camurati-Engelmann disease results from domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1; 190180) on chromosome 19q13. Also see Camurati-Engelmann disease type 2 (606631) in which no mutation in the TGFB1 gene has been found.</p>
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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>Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally (summary by Janssens et al., 2006). </p>
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<div>
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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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</div>
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<span class="mim-text-font">
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<p>Camurati (1922) of Bologna described a rare type of 'symmetrical hereditary osteitis' involving the lower limbs in a father and son and several others in a total of 4 generations. Pain in the legs and fusiform swelling of the legs below the knees were noted. Engelmann (1929) of Vienna reported an isolated case of 'osteopathica hyperostotica (sclerotisans) multiplex infantilis.' The disorder is sometimes called Camurati-Engelmann disease in recognition of the earlier description. Cockayne (1920) described a probable case before the publications of Camurati and Engelmann. The nature of the condition and the possibility that it represented syphilitic osteitis were discussed. </p><p>Lennon et al. (1961) described a case of Engelmann disease and reviewed the literature. Gross thickening of the cortex of bones, both on the periosteal surface and in the medullary canal, is characteristic. The process usually begins in the shaft of the femur or tibia but spreads to involve all bones. Onset is usually before age 30 years, often before age 10. All races and both sexes are affected. Nine examples of familial occurrence in 1 or 2 generations were mentioned. Severe bone pains, especially in the legs, and muscular hypoplasia are the distinctive features of this form of sclerotic bone disease. The bones of the base of the skull and rarely the mandible may be affected. The skeletal disorder is often associated with muscular weakness, peculiar gait, pains in the legs, fatigability, and apparent undernutrition. The muscular weakness is not necessarily progressive and typical bone changes may be found in asymptomatic persons. Because of the associated features, muscular dystrophy or poliomyelitis is sometimes diagnosed in these patients.</p><p>The condition described by Ribbing and in the past sometimes referred to as Ribbing disease (601477) has been considered by some to be Engelmann disease. Ribbing (1949) described a family in which 4 of 6 sibs were affected. The diaphyseal osteosclerosis and hyperostosis were limited to one or more (up to 4) of the long bones, the tibia being affected in all. The father, who was dead, had complained for many years of pains in the legs. Thus, the condition may be dominant; no x-ray studies of the father were available and Ribbing (1949) noted that the body had been cremated. Paul (1953) reported the same entity in 2 of 4 sibs, one of whom also had otosclerosis, which was present in several other members of the kindred. In an addendum, Paul noted that the infant son of one of his patients had difficulty walking and was found to have multiple sclerosing lesions of long bones. Again dominant inheritance was suggested. Ribbing (1949) referred to the condition described as hereditary multiple diaphyseal sclerosis (rather than dysplasia), and the same term was used by Paul (1953) and Furia and Schwartz (1990). Seeger et al. (1996) insisted that Ribbing disease is a disorder separate from Engelmann disease. Although it may appear to be identical radiographically, many clinical differences exist. Camurati-Engelmann disease presents during childhood, whereas Ribbing disease was thought by Seeger et al. (1996) to present in middle age. (They wrote: 'patients contract Ribbing disease after puberty.') The disease is confined to the diaphyses of long bones, especially the tibia and the femur. Whereas Engelmann disease is bilateral and symmetric, Ribbing disease is either unilateral or asymmetric and asynchronously bilateral. In Engelmann disease, the skull is involved as well as the long bones. The gait and neurologic abnormalities and anemia with extramedullary hematopoiesis occurs only in Engelmann disease. </p><p>Makita et al. (2000) reported a 3-generation Japanese family with Engelmann disease with a wide variation in phenotype among the affected family members. Of the 12 patients, 7 had full manifestations of Engelmann disease, while the other 5 exhibited only segmental (rhizomelic and/or mesomelic) involvement and asymmetric diaphyseal sclerosis without any clinical symptoms, resembling Ribbing disease. The authors proposed that Engelmann disease and Ribbing disease represent phenotypic variation of the same disorder. </p><p>Crisp and Brenton (1982) emphasized systemic manifestations in Engelmann disease: anemia, leukopenia, hepatosplenomegaly, and raised erythrocyte sedimentation rate. Their patient also had the Raynaud phenomenon and multiple nail-fold infarcts. </p><p>Clybouw et al. (1994) reported a 10-year-old girl with characteristic clinical and roentgenologic manifestations of Camurati-Engelmann disease. Scintigraphy with 99mTc showed increased osteoblastic activity in the diaphyseal portions of almost all long bones. Clinical and roentgenologic investigations of her parents produced normal results, but a clear focus of osteoblastic hyperactivity was demonstrated scintigraphically at the base of the skull of the proband's mother. Some persons with Camurati-Engelmann disease may have subclinical manifestations. According to Clybouw et al. (1994), a detailed study including x-ray examination and scintigraphy is necessary for genetic counseling in apparently sporadic cases. </p><p>Grey et al. (1996) provided a 45-year follow-up on a patient with Engelmann disease initially described by Stronge and McDowell (1950) when he was 28 years of age. The disease had shown progression over the subsequent 45 years, characterized by the unique involvement of the femoral capital epiphyses. The patient had changed little in physical appearance, apart from aging. He was thin and tall with generalized underdevelopment and weakness of the muscles, particularly around the pelvic girdle and thighs. The legs were bowed and the lumbar lordosis had increased. Serum alkaline phosphatase levels had remained normal. In 1950 the disease involved only the diaphyses of the affected limbs. By 45 years later it had affected the metaphyses of all limbs, the epiphyses, and the articular surfaces of the femoral heads and acetabula, as well as the right tibial epiphysis. The spine and hands, unaffected in 1950, showed changes and there was some progression of the disease in the skull. </p><p>Saraiva (2000) described anticipation as judged by age of onset of symptoms in successive generations of a large family with 15 affected members in 3 generations. </p><p>Wallace et al. (2004) reported a 4-generation pedigree with 7 individuals affected by CED. The pedigree demonstrated autosomal dominant inheritance but with remarkable variation in expressivity and reduced penetrance. The most severely affected individual had progression of mild skull hyperostosis to severe skull thickening and cranial nerve compression over 30 years. His carrier father, on the other hand, remained asymptomatic into his ninth decade and had no radiographic hyperostosis or sclerosis of the bones. Symptomatic relatives presented with lower limb pain and weakness. They were initially diagnosed with a variety of other conditions. Two of the symptomatic individuals were treated successfully with prednisone. Linkage to 19q13.1-q13.3 was confirmed. The arg218-to-his mutation in the TGFB1 gene (R218H; 190180.0003) was identified in the affected individuals, the asymptomatic obligate carrier, and in another unaffected relative. </p><p>Janssens et al. (2006) reported 41 individuals with CED confirmed by genetic analysis from 14 families and provided a detailed review of the disorder. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</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>Girdany (1959) described a family with 6 affected persons in 3 generations (no male-to-male transmission). A case reported by Singleton et al. (1956) had strikingly similar clinical features. Restudy indicated that 3 generations were affected in that family also (Singleton, 1967). Father and 2 children (son and daughter) were affected in a family reported by Ramon and Buchner (1966). The father was much more severely affected than the offspring. Allen et al. (1970) presented a family in which 11 persons in 3 generations were known to have been affected. Sparkes and Graham (1972) reported a remarkable family with many affected persons in several successive generations. A particularly remarkable feature was lack of penetrance in persons who must have had the gene but, as adults at any rate, showed no abnormality by x-ray. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</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>The beneficial effects of corticosteroids were apparently first described by Royer et al. (1967), followed shortly by Allen et al. (1970) and by Lindstrom (1974). Minford et al. (1981) noted not only relief from pain but also return of radiologic findings toward normal during treatment with corticosteroids. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</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>Campos-Xavier et al. (2001) stated that 5 mutations in the TGFB1 gene had been identified in 21 families with CED. In 1 Australian family and 6 European families with CED, they found 3 of these mutations, R218H (190180.0002) in 1 family, R218C (190180.0003) in 3 families, and C225R (190180.0001) in 3 families, which had previously been observed in families of Japanese and Israeli origin. The R218C mutation appeared to be the most prevalent worldwide, having been found in 17 of 28 reported families. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Heterogeneity</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>Campos-Xavier et al. (2001) found no obvious correlation between the nature of TGFB1 mutations and the severity of the clinical manifestations of CED, but observed a marked intrafamilial clinical variability, supporting incomplete penetrance of CED. </p><p>Xavier et al. (2000) suggested that DPD1 is genetically homogeneous; however, Hecht et al. (2001) excluded the TGFB1 gene as the site of mutation in a DPD1 family, thus indicating the existence of at least one other form. </p><p>Also see Camurati-Engelmann disease type II (606631) in which no mutation in the TGFB1 gene has been found.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Ghadami et al. (2000) performed a genomewide linkage analysis of 2 unrelated Japanese families with CED, in which a total of 27 members were available for study; 16 of them were affected with CED. Two-point linkage analysis showed a maximum lod score of 7.41 (recombination fraction 0.00; penetrance = 1.00) for the D19S918 microsatellite marker locus. Haplotype analysis revealed that all the affected individuals shared a common haplotype observed, in each family, between D19S881 and D19S606, at 19q13.1-q13.3 (within a genetic interval of 15.1 cM). This linkage was confirmed by Janssens et al. (2000) and Vaughn et al. (2000). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</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>Because the transforming growth factor-beta-1 gene (TGFB1; 190180) maps to the same region of chromosome 19, Kinoshita et al. (2000) screened it for mutations in Camurati-Engelmann disease in 7 unrelated Japanese families and 2 families of European descent. They detected 3 different heterozygous missense mutations in exon 4, near the carboxy terminus of the latency-associated peptide (LAP), in all 9 families examined. </p>
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Clawson and Loop (1964); Hundley and Wilson (1973); Yoshioka et al.
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(1980)
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</span>
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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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<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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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Allen, D. T., Saunders, A. M., Northway, W. H., Jr., Williams, G. F., Schafer, I. A.
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<strong>Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia.</strong>
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Pediatrics 46: 523-531, 1970.
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[PubMed: 5503688]
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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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Campos-Xavier, A. B., Saraiva, J. M., Savarirayan, R., Verloes, A., Feingold, J., Faivre, L., Munnich, A., Le Merrer, M., Cormier-Daire, V.
|
|
<strong>Phenotypic variability at the TGF-beta-1 locus in Camurati-Engelmann disease.</strong>
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Hum. Genet. 109: 653-658, 2001.
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[PubMed: 11810278]
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[Full Text: https://doi.org/10.1007/s00439-001-0644-8]
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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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Camurati, M.
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<strong>Di uno raro caso di osteite simmetrica ereditaria degli arti inferiori.</strong>
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Chir. Organi Mov. 6: 662-665, 1922.
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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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Clawson, D. K., Loop, J. W.
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<strong>Progressive diaphyseal dysplasia (Engelmann's disease).</strong>
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J. Bone Joint Surg. Am. 46: 143-150, 1964.
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[PubMed: 14104304]
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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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Clybouw, C., Desmyttere, S., Bonduelle, M., Piepsz, A.
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<strong>Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling.</strong>
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Genet. Counsel. 5: 195-198, 1994.
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[PubMed: 7917133]
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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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Cockayne, E. A.
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<strong>Case for diagnosis.</strong>
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Proc. Roy. Soc. Med. 13: 132-136, 1920.
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[PubMed: 19981348]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Crisp, A. J., Brenton, D. P.
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<strong>Engelmann's disease of bone--a systemic disorder?</strong>
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|
Ann. Rheum. Dis. 41: 183-188, 1982.
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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