2624 lines
172 KiB
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2624 lines
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Entry
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- #612247 - CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN
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- OMIM
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<p>
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<span class="h4">#612247</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/612247"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=(CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS) OR (FGFR3)" class="mim-tip-hint" title="Clinical Trials" 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=12205&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/NBK1455/" 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/8115" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome-with-acanthosis-nigricans" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612247[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=93262" 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/83827dd6-f898-426e-9505-458ec35ed33a/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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<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:0111161" 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/612247" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111161" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 702361006<br />
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<strong>ORPHA:</strong> 93262<br />
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<strong>DO:</strong> 0111161<br />
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">ICD+</a>
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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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612247
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</span>
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</span>
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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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CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CROUZONODERMOSKELETAL SYNDROME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/34?start=-3&limit=10&highlight=34">
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4p16.3
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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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Crouzon syndrome with acanthosis nigricans
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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/612247"> 612247 </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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</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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FGFR3
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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/134934"> 134934 </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/612247" 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>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/612247" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/612247" 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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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<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">
|
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<strong> INHERITANCE </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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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Brachycephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13649004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13649004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221356</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Brachycephaly-Large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><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">
|
|
|
|
- Proptosis <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> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Proptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Choanal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204508009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204508009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q30.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q30.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/748.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">748.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008297</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000453</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ovarian cysts (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79883001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79883001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N83.209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N83.209</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N83.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N83.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029927</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000138</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">
|
|
|
|
- Craniosynostosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57219006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57219006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1421244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1421244</a>, <a href="https://bioportal.bioontology.org/search?q=C5848303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848303</a>, <a href="https://bioportal.bioontology.org/search?q=C0010278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0005458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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- Acanthosis nigricans (neck, axilla, groin, periorbital region, perioral region) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229976&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229976</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402599005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402599005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72129000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72129000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L83</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000956</a>]</span><br /> -
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Verrucous hyperplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229975</a>]</span><br /> -
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Hyperpigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4830009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4830009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49765009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162834</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000953" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000953</a>]</span><br /> -
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Hypopigmentation of surgical scars <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227417</a>]</span><br /> -
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Melanocytic nevi <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400096001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400096001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400010006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400010006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D22.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D22.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027962</a>, <a href="https://bioportal.bioontology.org/search?q=C3665593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003764</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000995" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000995</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000995" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000995</a>]</span><br /> -
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Skin hypertrophy, particularly in flexural areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229974</a>]</span><br /> -
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Generalized skin thickening (particularly over the trunk) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229973&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229973</a>]</span><br /> -
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Warty acanthomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229972</a>]</span><br />
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<span class="h5 mim-font">
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<em> Skin Histology </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Papillomatosis with overlying thin, slightly hyperpigmented epidermis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229971</a>]</span><br />
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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>
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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 style="margin-left: 2em;">
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<span class="mim-font">
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- Hydrocephalus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</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> MISCELLANEOUS </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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- Onset of acanthosis nigricans in childhood or by puberty<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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- Caused by mutation (A391E) in the fibroblast growth factor receptor 3 gene (FGFR3, <a href="/entry/134934#0011">134934.0011</a>)<br />
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</span>
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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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<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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</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 Crouzon syndrome with acanthosis nigricans (CAN) is caused by a specific heterozygous missense mutation in the FGFR3 gene (A391E; <a href="/entry/134934#0011">134934.0011</a>) on chromosome 4p16.</p>
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<div>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<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 id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome (<a href="/entry/123500">123500</a>), which is caused by mutation in the FGFR2 gene (<a href="/entry/176943">176943</a>). <a href="#3" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Let's call it 'Crouzonodermoskeletal syndrome' so we won't be prisoners of our own conventional terminology. (Letter)</strong> Am. J. Med. Genet. 84: 74 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213050</a>]" pmid="10213050">Cohen (1999)</a> argued that this condition is separate from Crouzon syndrome for 2 main reasons: it is caused by a highly specific mutation of the FGFR3 gene, whereas multiple different FGFR2 mutations result in Crouzon syndrome, and the phenotypes are different. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10213050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Breitbart, A. S., Eaton, C., McCarthy, J. G. <strong>Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon.</strong> Ann. Plast. Surg. 22: 310-315, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2650599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2650599</a>] [<a href="https://doi.org/10.1097/00000637-198904000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2650599">Breitbart et al. (1989)</a> reported 6 patients with Crouzon syndrome and acanthosis nigricans and discussed the ramifications for the craniofacial surgeon. The authors noted that surgical sites within the areas affected by acanthosis nigricans often demonstrated marked hypopigmentation. Three of the 6 patients had choanal atresia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2650599" 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="#4" class="mim-tip-reference" title="Meyers, G. A., Orlow, S. J., Munro, I. R., Przylepa, K. A., Jabs, E. W. <strong>Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.</strong> Nature Genet. 11: 462-464, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493034</a>] [<a href="https://doi.org/10.1038/ng1295-462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493034">Meyers et al. (1995)</a> reported a mother and daughter with Crouzon craniosynostosis associated with acanthosis nigricans. Two additional patients had this combination without a family history. The patients had classic features of Crouzon syndrome without the typical skeletal manifestations of other disorders associated with FGFR3 mutations. The acanthosis nigricans was characterized by verrucous hyperplasia and hypertrophy of the skin with hyperpigmentation and accentuation of skin markings, especially in flexural areas. Although the association of acanthosis nigricans with certain congenital disorders had been recognized (<a href="#5" class="mim-tip-reference" title="Orlow, S. J. <strong>Cutaneous findings in craniofacial malformation syndromes.</strong> Arch. Derm. 128: 1379-1386, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1417028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1417028</a>]" pmid="1417028">Orlow, 1992</a>), acanthosis nigricans associated with Crouzon syndrome was atypical in several ways: the onset was often early, apparent in childhood, and always by puberty; and the distribution included the axillae, neck, chest, abdomen, breasts, perioral and periorbital areas, and nasolabial folds. In addition, all 4 patients had multiple melanocytic nevi and choanal atresia, and 3 developed hydrocephalus. <a href="#4" class="mim-tip-reference" title="Meyers, G. A., Orlow, S. J., Munro, I. R., Przylepa, K. A., Jabs, E. W. <strong>Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.</strong> Nature Genet. 11: 462-464, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493034</a>] [<a href="https://doi.org/10.1038/ng1295-462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493034">Meyers et al. (1995)</a> noted that both choanal atresia and hydrocephalus are unusual findings in classic Crouzon syndrome. There was a female preponderance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7493034+1417028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Wilkes, D., Rutland, P., Pulleyn, L. J., Reardon, W., Moss, C., Ellis, J. P., Winter, R. M., Malcolm, S. <strong>A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.</strong> J. Med. Genet. 33: 744-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8880573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8880573</a>] [<a href="https://doi.org/10.1136/jmg.33.9.744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8880573">Wilkes et al. (1996)</a> reported 3 unrelated patients with Crouzon syndrome and acanthosis nigricans. The first patient was a male who had proptosis and craniosynostosis since birth and developed dry skin and acanthosis nigricans at age 9 years. A female patient had feeding difficulties and failure to thrive associated with incomplete choanal atresia, midface hypoplasia, and bicoronal synostosis. The third patient was a 61-year-old man with abnormal skull shape with proptosis and hypertelorism. Radiographs showed brachycephaly and hypoplasia of the maxillary bones. Acanthosis nigricans was present since early childhood and progressed to generalized skin thickening and distribution of warty acanthomas over his back. <a href="#9" class="mim-tip-reference" title="Wilkes, D., Rutland, P., Pulleyn, L. J., Reardon, W., Moss, C., Ellis, J. P., Winter, R. M., Malcolm, S. <strong>A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.</strong> J. Med. Genet. 33: 744-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8880573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8880573</a>] [<a href="https://doi.org/10.1136/jmg.33.9.744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8880573">Wilkes et al. (1996)</a> emphasized the unusual distribution of the skin lesions, particularly in the perioral region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8880573" 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="Schweitzer, D. N., Graham, J. M., Jr., Lachman, R. S., Jabs, E. W., Okajima, K., Przylepa, K. A., Shanske, A., Chen, K., Neidich, J. A., Wilcox, W. R. <strong>Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an ala391-to-glu substitution in FGFR3.</strong> Am. J. Med. Genet. 98: 75-91, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11426459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11426459</a>]" pmid="11426459">Schweitzer et al. (2001)</a> reported 3 cases of Crouzon syndrome with acanthosis nigricans and compared the clinical characteristics with 3 previously reported cases. All 6 patients had subtle radiographic findings of achondroplasia (ACH; <a href="/entry/100800">100800</a>), including narrow sacrosciatic notches, short vertebral bodies, lack of the normal increase in interpediculate distance from the upper lumbar vertebrae caudally, and broad, short metacarpals and phalanges. <a href="#7" class="mim-tip-reference" title="Schweitzer, D. N., Graham, J. M., Jr., Lachman, R. S., Jabs, E. W., Okajima, K., Przylepa, K. A., Shanske, A., Chen, K., Neidich, J. A., Wilcox, W. R. <strong>Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an ala391-to-glu substitution in FGFR3.</strong> Am. J. Med. Genet. 98: 75-91, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11426459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11426459</a>]" pmid="11426459">Schweitzer et al. (2001)</a> concluded that the presence of choanal atresia and hydrocephalus in an individual with features of Crouzon syndrome should suggest the diagnosis of Crouzon syndrome with acanthosis nigricans, even before the skin involvement appears. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11426459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Arnaud-Lopez, L., Fragoso, R., Mantilla-Capacho, J., Barros-Nunez, P. <strong>Crouzon with acanthosis nigricans: further delineation of the syndrome.</strong> Clin. Genet. 72: 405-410, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935505</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00884.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935505">Arnaud-Lopez et al. (2007)</a> reported 2 patients with Crouzon syndrome and acanthosis nigricans. A 30-month-old girl had respiratory insufficiency, laryngomalacia, and craniosynostosis, and had developed acanthosis nigricans at age 21 months. Acanthosis nigricans occurred on the neck, flexion sites, nipples, abdomen, perioral and perialar regions. A CT scan at birth showed signs of increased intracranial pressure, choanal stenosis, and hypertrophy of turbinate bones. An unrelated girl had a cloverleaf skull at birth and hydrocephalus. She had normal development, proportionate short stature, craniosynostosis with crouzonoid characteristics, melanocytic nevi in the face and thorax, and limited extension of the elbows. Acanthosis nigricans, which was observed from the age of 4 years, affected periorbital, paranasal and perioral regions, the neck, thorax, abdomen, and flexion sites of the limbs. Hypopigmentation was evident in surgical scars of the neck and abdomen. Radiographic studies showed turribrachycephaly, hypoplastic malar bone, and fusiform distal phalanges. She also had a dysplastic right kidney, membranous glomerulonephritis, and terminal renal failure at age 14 years. Both patients had the FGFR3 A391E mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of 33 published cases of Crouzon syndrome with acanthosis nigricans, <a href="#1" class="mim-tip-reference" title="Arnaud-Lopez, L., Fragoso, R., Mantilla-Capacho, J., Barros-Nunez, P. <strong>Crouzon with acanthosis nigricans: further delineation of the syndrome.</strong> Clin. Genet. 72: 405-410, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935505</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00884.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935505">Arnaud-Lopez et al. (2007)</a> found an increased female to male ratio of 2.4:1. Common features included craniofacial anomalies such as downslanting palpebral fissures, exophthalmos, ocular hypertelorism, midface hypoplasia, convex nose and posteriorly rotated ears. Most (80%) of patients developed acanthosis nigricans within the first decade, and its localization was widespread and atypical compared to acanthosis nigricans alone. Additional skin anomalies included hypopigmentation of surgical scars and melanocytic nevi. Choanal atresia was present in 41% and hydrocephalus in 43%. Some patients had oral abnormalities, including cleft palate, bifid and hypoplastic uvula, dental malocclusion, and cementomas of the jaw. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935505" 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="Cohen, M. M., Jr. <strong>Let's call it 'Crouzonodermoskeletal syndrome' so we won't be prisoners of our own conventional terminology. (Letter)</strong> Am. J. Med. Genet. 84: 74 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213050</a>]" pmid="10213050">Cohen (1999)</a> noted that the FGFR3 A391E mutation is also associated with cementomas of the jaws, which is not found in classic Crouzon syndrome (<a href="#6" class="mim-tip-reference" title="Reddy, B. S. N., Garg, B. R., Padiyar, N. V., Krishnaram, A. S. <strong>An unusual association of acanthosis nigricans and Crouzon's disease: a case report.</strong> J. Derm. 12: 85-90, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3894462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3894462</a>] [<a href="https://doi.org/10.1111/j.1346-8138.1985.tb01542.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3894462">Reddy et al., 1985</a>; <a href="#8" class="mim-tip-reference" title="Superti-Furga, A., Locher, M. L., Steinlin, M., Elch, G., Huisman, T., Steinmann, B., Sailer, H. F., Boltshauser, E. <strong>Crouzon syndrome with acanthosis nigricans, spinal stenosis and desmo-osteoblastomas: pleiotropic effects of the FGFR-3 ala391glu mutation.</strong> J. Craniomaxillofac. Surg. (Suppl.) 24: 112 only, 1996."None>Superti-Furga et al., 1996</a>). In addition, the interpediculate distances progressively narrow from the upper to the lower spine, as in achondroplasia (<a href="#8" class="mim-tip-reference" title="Superti-Furga, A., Locher, M. L., Steinlin, M., Elch, G., Huisman, T., Steinmann, B., Sailer, H. F., Boltshauser, E. <strong>Crouzon syndrome with acanthosis nigricans, spinal stenosis and desmo-osteoblastomas: pleiotropic effects of the FGFR-3 ala391glu mutation.</strong> J. Craniomaxillofac. Surg. (Suppl.) 24: 112 only, 1996."None>Superti-Furga et al., 1996</a>), which is also caused by an FGFR3 mutation. <a href="#3" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Let's call it 'Crouzonodermoskeletal syndrome' so we won't be prisoners of our own conventional terminology. (Letter)</strong> Am. J. Med. Genet. 84: 74 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213050</a>]" pmid="10213050">Cohen (1999)</a> suggested that radiographic studies of the jaws and vertebrae are indicated in cases of associated Crouzonoid phenotype and acanthosis nigricans. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3894462+10213050" 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>In 4 patients with Crouzon syndrome with acanthosis nigricans, <a href="#4" class="mim-tip-reference" title="Meyers, G. A., Orlow, S. J., Munro, I. R., Przylepa, K. A., Jabs, E. W. <strong>Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.</strong> Nature Genet. 11: 462-464, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493034</a>] [<a href="https://doi.org/10.1038/ng1295-462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493034">Meyers et al. (1995)</a> identified the same heterozygous A391E mutation (<a href="/entry/134934#0011">134934.0011</a>) in the FGFR3 gene. This mutation was not present in 16 unrelated Crouzon syndrome patients with FGFR2 mutations, 13 unrelated Crouzon syndrome patients without FGFR2 IgIII domain mutations, or 50 unrelated controls. In addition, the authors found no FGFR3 mutations in 2 unrelated patients with isolated acanthosis nigricans (<a href="/entry/100600">100600</a>). In 1 kindred, a patient with Crouzon syndrome with acanthosis nigricans had a second cousin with classic Crouzon syndrome due to an FGFR2 mutation (S347C; <a href="/entry/176943#0009">176943.0009</a>), and the authors raised the possibility of a predisposing factor for FGFR mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated patients with Crouzon syndrome and acanthosis nigricans, <a href="#9" class="mim-tip-reference" title="Wilkes, D., Rutland, P., Pulleyn, L. J., Reardon, W., Moss, C., Ellis, J. P., Winter, R. M., Malcolm, S. <strong>A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.</strong> J. Med. Genet. 33: 744-748, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8880573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8880573</a>] [<a href="https://doi.org/10.1136/jmg.33.9.744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8880573">Wilkes et al. (1996)</a> identified the A391E mutation in the FGFR3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8880573" 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="Cohen, M. M., Jr. <strong>Let's call it 'Crouzonodermoskeletal syndrome' so we won't be prisoners of our own conventional terminology. (Letter)</strong> Am. J. Med. Genet. 84: 74 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213050</a>]" pmid="10213050">Cohen (1999)</a> urged that this disorder be called 'Crouzonodermoskeletal syndrome' for the Crouzonoid phenotype combined with the cutaneous and skeletal features, including jaw cementomas and vertebral alterations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10213050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Crouzon with acanthosis nigricans: further delineation of the syndrome.</strong>
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Clin. Genet. 72: 405-410, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon.</strong>
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Ann. Plast. Surg. 22: 310-315, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2650599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2650599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2650599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Am. J. Med. Genet. 84: 74 only, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10213050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.</strong>
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Nature Genet. 11: 462-464, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493034" 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/10.1038/ng1295-462" target="_blank">Full Text</a>]
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<a id="Orlow1992" class="mim-anchor"></a>
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<p class="mim-text-font">
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Orlow, S. J.
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<strong>Cutaneous findings in craniofacial malformation syndromes.</strong>
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Arch. Derm. 128: 1379-1386, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1417028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1417028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1417028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Reddy1985" class="mim-anchor"></a>
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<p class="mim-text-font">
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Reddy, B. S. N., Garg, B. R., Padiyar, N. V., Krishnaram, A. S.
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<strong>An unusual association of acanthosis nigricans and Crouzon's disease: a case report.</strong>
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J. Derm. 12: 85-90, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3894462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3894462</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3894462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1346-8138.1985.tb01542.x" target="_blank">Full Text</a>]
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<a id="Schweitzer2001" class="mim-anchor"></a>
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Schweitzer, D. N., Graham, J. M., Jr., Lachman, R. S., Jabs, E. W., Okajima, K., Przylepa, K. A., Shanske, A., Chen, K., Neidich, J. A., Wilcox, W. R.
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<strong>Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an ala391-to-glu substitution in FGFR3.</strong>
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Am. J. Med. Genet. 98: 75-91, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11426459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11426459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11426459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Superti-Furga1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Superti-Furga, A., Locher, M. L., Steinlin, M., Elch, G., Huisman, T., Steinmann, B., Sailer, H. F., Boltshauser, E.
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<strong>Crouzon syndrome with acanthosis nigricans, spinal stenosis and desmo-osteoblastomas: pleiotropic effects of the FGFR-3 ala391glu mutation.</strong>
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J. Craniomaxillofac. Surg. (Suppl.) 24: 112 only, 1996.
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Wilkes, D., Rutland, P., Pulleyn, L. J., Reardon, W., Moss, C., Ellis, J. P., Winter, R. M., Malcolm, S.
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<strong>A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.</strong>
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J. Med. Genet. 33: 744-748, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8880573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8880573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8880573" 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.33.9.744" target="_blank">Full Text</a>]
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin : 8/21/2008
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carol : 05/24/2016
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carol : 2/25/2015<br>carol : 9/4/2008<br>ckniffin : 8/22/2008<br>ckniffin : 8/22/2008
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<strong>#</strong> 612247
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CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN
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CROUZONODERMOSKELETAL SYNDROME
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<strong>SNOMEDCT:</strong> 702361006;
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<strong>ORPHA:</strong> 93262;
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<strong>DO:</strong> 0111161;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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<span class="mim-font">
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4p16.3
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<span class="mim-font">
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Crouzon syndrome with acanthosis nigricans
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<span class="mim-font">
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612247
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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FGFR3
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<span class="mim-font">
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134934
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Crouzon syndrome with acanthosis nigricans (CAN) is caused by a specific heterozygous missense mutation in the FGFR3 gene (A391E; 134934.0011) on chromosome 4p16.</p>
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<strong>Description</strong>
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<p>Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome (123500), which is caused by mutation in the FGFR2 gene (176943). Cohen (1999) argued that this condition is separate from Crouzon syndrome for 2 main reasons: it is caused by a highly specific mutation of the FGFR3 gene, whereas multiple different FGFR2 mutations result in Crouzon syndrome, and the phenotypes are different. </p>
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<strong>Clinical Features</strong>
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<p>Breitbart et al. (1989) reported 6 patients with Crouzon syndrome and acanthosis nigricans and discussed the ramifications for the craniofacial surgeon. The authors noted that surgical sites within the areas affected by acanthosis nigricans often demonstrated marked hypopigmentation. Three of the 6 patients had choanal atresia. </p><p>Meyers et al. (1995) reported a mother and daughter with Crouzon craniosynostosis associated with acanthosis nigricans. Two additional patients had this combination without a family history. The patients had classic features of Crouzon syndrome without the typical skeletal manifestations of other disorders associated with FGFR3 mutations. The acanthosis nigricans was characterized by verrucous hyperplasia and hypertrophy of the skin with hyperpigmentation and accentuation of skin markings, especially in flexural areas. Although the association of acanthosis nigricans with certain congenital disorders had been recognized (Orlow, 1992), acanthosis nigricans associated with Crouzon syndrome was atypical in several ways: the onset was often early, apparent in childhood, and always by puberty; and the distribution included the axillae, neck, chest, abdomen, breasts, perioral and periorbital areas, and nasolabial folds. In addition, all 4 patients had multiple melanocytic nevi and choanal atresia, and 3 developed hydrocephalus. Meyers et al. (1995) noted that both choanal atresia and hydrocephalus are unusual findings in classic Crouzon syndrome. There was a female preponderance. </p><p>Wilkes et al. (1996) reported 3 unrelated patients with Crouzon syndrome and acanthosis nigricans. The first patient was a male who had proptosis and craniosynostosis since birth and developed dry skin and acanthosis nigricans at age 9 years. A female patient had feeding difficulties and failure to thrive associated with incomplete choanal atresia, midface hypoplasia, and bicoronal synostosis. The third patient was a 61-year-old man with abnormal skull shape with proptosis and hypertelorism. Radiographs showed brachycephaly and hypoplasia of the maxillary bones. Acanthosis nigricans was present since early childhood and progressed to generalized skin thickening and distribution of warty acanthomas over his back. Wilkes et al. (1996) emphasized the unusual distribution of the skin lesions, particularly in the perioral region. </p><p>Schweitzer et al. (2001) reported 3 cases of Crouzon syndrome with acanthosis nigricans and compared the clinical characteristics with 3 previously reported cases. All 6 patients had subtle radiographic findings of achondroplasia (ACH; 100800), including narrow sacrosciatic notches, short vertebral bodies, lack of the normal increase in interpediculate distance from the upper lumbar vertebrae caudally, and broad, short metacarpals and phalanges. Schweitzer et al. (2001) concluded that the presence of choanal atresia and hydrocephalus in an individual with features of Crouzon syndrome should suggest the diagnosis of Crouzon syndrome with acanthosis nigricans, even before the skin involvement appears. </p><p>Arnaud-Lopez et al. (2007) reported 2 patients with Crouzon syndrome and acanthosis nigricans. A 30-month-old girl had respiratory insufficiency, laryngomalacia, and craniosynostosis, and had developed acanthosis nigricans at age 21 months. Acanthosis nigricans occurred on the neck, flexion sites, nipples, abdomen, perioral and perialar regions. A CT scan at birth showed signs of increased intracranial pressure, choanal stenosis, and hypertrophy of turbinate bones. An unrelated girl had a cloverleaf skull at birth and hydrocephalus. She had normal development, proportionate short stature, craniosynostosis with crouzonoid characteristics, melanocytic nevi in the face and thorax, and limited extension of the elbows. Acanthosis nigricans, which was observed from the age of 4 years, affected periorbital, paranasal and perioral regions, the neck, thorax, abdomen, and flexion sites of the limbs. Hypopigmentation was evident in surgical scars of the neck and abdomen. Radiographic studies showed turribrachycephaly, hypoplastic malar bone, and fusiform distal phalanges. She also had a dysplastic right kidney, membranous glomerulonephritis, and terminal renal failure at age 14 years. Both patients had the FGFR3 A391E mutation. </p><p>In a review of 33 published cases of Crouzon syndrome with acanthosis nigricans, Arnaud-Lopez et al. (2007) found an increased female to male ratio of 2.4:1. Common features included craniofacial anomalies such as downslanting palpebral fissures, exophthalmos, ocular hypertelorism, midface hypoplasia, convex nose and posteriorly rotated ears. Most (80%) of patients developed acanthosis nigricans within the first decade, and its localization was widespread and atypical compared to acanthosis nigricans alone. Additional skin anomalies included hypopigmentation of surgical scars and melanocytic nevi. Choanal atresia was present in 41% and hydrocephalus in 43%. Some patients had oral abnormalities, including cleft palate, bifid and hypoplastic uvula, dental malocclusion, and cementomas of the jaw. </p>
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<h4>
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<span class="mim-font">
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<strong>Other Features</strong>
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</span>
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<span class="mim-text-font">
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<p>Cohen (1999) noted that the FGFR3 A391E mutation is also associated with cementomas of the jaws, which is not found in classic Crouzon syndrome (Reddy et al., 1985; Superti-Furga et al., 1996). In addition, the interpediculate distances progressively narrow from the upper to the lower spine, as in achondroplasia (Superti-Furga et al., 1996), which is also caused by an FGFR3 mutation. Cohen (1999) suggested that radiographic studies of the jaws and vertebrae are indicated in cases of associated Crouzonoid phenotype and acanthosis nigricans. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In 4 patients with Crouzon syndrome with acanthosis nigricans, Meyers et al. (1995) identified the same heterozygous A391E mutation (134934.0011) in the FGFR3 gene. This mutation was not present in 16 unrelated Crouzon syndrome patients with FGFR2 mutations, 13 unrelated Crouzon syndrome patients without FGFR2 IgIII domain mutations, or 50 unrelated controls. In addition, the authors found no FGFR3 mutations in 2 unrelated patients with isolated acanthosis nigricans (100600). In 1 kindred, a patient with Crouzon syndrome with acanthosis nigricans had a second cousin with classic Crouzon syndrome due to an FGFR2 mutation (S347C; 176943.0009), and the authors raised the possibility of a predisposing factor for FGFR mutations. </p><p>In 3 unrelated patients with Crouzon syndrome and acanthosis nigricans, Wilkes et al. (1996) identified the A391E mutation in the FGFR3 gene. </p>
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</span>
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<h4>
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<strong>Nomenclature</strong>
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<span class="mim-text-font">
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<p>Cohen (1999) urged that this disorder be called 'Crouzonodermoskeletal syndrome' for the Crouzonoid phenotype combined with the cutaneous and skeletal features, including jaw cementomas and vertebral alterations. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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<p class="mim-text-font">
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Arnaud-Lopez, L., Fragoso, R., Mantilla-Capacho, J., Barros-Nunez, P.
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<strong>Crouzon with acanthosis nigricans: further delineation of the syndrome.</strong>
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Clin. Genet. 72: 405-410, 2007.
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[PubMed: 17935505]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00884.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Breitbart, A. S., Eaton, C., McCarthy, J. G.
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<strong>Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon.</strong>
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Ann. Plast. Surg. 22: 310-315, 1989.
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[PubMed: 2650599]
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[Full Text: https://doi.org/10.1097/00000637-198904000-00005]
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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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Cohen, M. M., Jr.
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<strong>Let's call it 'Crouzonodermoskeletal syndrome' so we won't be prisoners of our own conventional terminology. (Letter)</strong>
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Am. J. Med. Genet. 84: 74 only, 1999.
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[PubMed: 10213050]
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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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Meyers, G. A., Orlow, S. J., Munro, I. R., Przylepa, K. A., Jabs, E. W.
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<strong>Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.</strong>
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Nature Genet. 11: 462-464, 1995.
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[PubMed: 7493034]
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[Full Text: https://doi.org/10.1038/ng1295-462]
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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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Orlow, S. J.
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<strong>Cutaneous findings in craniofacial malformation syndromes.</strong>
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Arch. Derm. 128: 1379-1386, 1992.
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[PubMed: 1417028]
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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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Reddy, B. S. N., Garg, B. R., Padiyar, N. V., Krishnaram, A. S.
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<strong>An unusual association of acanthosis nigricans and Crouzon's disease: a case report.</strong>
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J. Derm. 12: 85-90, 1985.
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[PubMed: 3894462]
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[Full Text: https://doi.org/10.1111/j.1346-8138.1985.tb01542.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Schweitzer, D. N., Graham, J. M., Jr., Lachman, R. S., Jabs, E. W., Okajima, K., Przylepa, K. A., Shanske, A., Chen, K., Neidich, J. A., Wilcox, W. R.
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<strong>Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an ala391-to-glu substitution in FGFR3.</strong>
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Am. J. Med. Genet. 98: 75-91, 2001.
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[PubMed: 11426459]
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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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Superti-Furga, A., Locher, M. L., Steinlin, M., Elch, G., Huisman, T., Steinmann, B., Sailer, H. F., Boltshauser, E.
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<strong>Crouzon syndrome with acanthosis nigricans, spinal stenosis and desmo-osteoblastomas: pleiotropic effects of the FGFR-3 ala391glu mutation.</strong>
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J. Craniomaxillofac. Surg. (Suppl.) 24: 112 only, 1996.
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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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Wilkes, D., Rutland, P., Pulleyn, L. J., Reardon, W., Moss, C., Ellis, J. P., Winter, R. M., Malcolm, S.
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<strong>A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.</strong>
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J. Med. Genet. 33: 744-748, 1996.
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[PubMed: 8880573]
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[Full Text: https://doi.org/10.1136/jmg.33.9.744]
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Cassandra L. Kniffin : 8/21/2008
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