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Entry
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- #602361 - GRACILE BONE DYSPLASIA; GCLEB
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- OMIM
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<p>
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<span class="h4">#602361</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/602361"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=GRACILE BONE DYSPLASIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2517&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/NBK590151/" 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/3163" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602361[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=2763" 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/c6be3c12-1c5c-4011-a32a-013297890a58/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>
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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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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 722109008<br />
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<strong>ORPHA:</strong> 2763<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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602361
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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GRACILE BONE DYSPLASIA; GCLEB
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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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<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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SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES<br />
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OSTEOCRANIOSPLENIC SYNDROME<br />
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OSTEOCRANIOSTENOSIS<br />
|
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HABRODYSPLASIA
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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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</th>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/413?start=-3&limit=10&highlight=413">
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11q12.1
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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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Gracile bone dysplasia
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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/602361"> 602361 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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FAM111A
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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/615292"> 615292 </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 class="btn-group ">
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<a href="/clinicalSynopsis/602361" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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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">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/602361" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/602361" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001525" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001525</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" 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">
|
|
|
|
- Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
|
|
Aniridia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69278003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69278003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.45" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.45</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003076</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000526" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000526</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000526" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000526</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ankyloglossia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67787004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67787004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152415&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152415</a>, <a href="https://bioportal.bioontology.org/search?q=C4759698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4759698</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010296" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010296</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010296" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010296</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ef931b279ada8cf9e68129bb3f83b52" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ankyloglossia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ef931b279ada8cf9e68129bb3f83b52" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thin ribs and clavicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807086</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Ascites <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/389026000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">389026000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R18</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R18.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R18.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003962</a>, <a href="https://bioportal.bioontology.org/search?q=C5441966&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441966</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001541</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030995" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030995</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001541</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic spleen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006270</a>]</span><br /> -
|
|
Asplenia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1003551006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1003551006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/702624008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">702624008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707147002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707147002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93030006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93030006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q89.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q89.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5779621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779621</a>, <a href="https://bioportal.bioontology.org/search?q=C0600031&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600031</a>, <a href="https://bioportal.bioontology.org/search?q=C5574735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001746</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001746</a>]</span><br />
|
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</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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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> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Micropenis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34911001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34911001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.62</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.64</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266435</a>, <a href="https://bioportal.bioontology.org/search?q=C4551492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551492</a>, <a href="https://bioportal.bioontology.org/search?q=C1387005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1387005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008736</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
|
|
|
|
</div>
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|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Bones dense but thin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807087&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807087</a>]</span><br /> -
|
|
Obliteration of medullary cavity seen on radiography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807088&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807088</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cloverleaf-shaped skull <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.051</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860050&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860050</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002676</a>]</span><br /> -
|
|
Hypoplastic cranial bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807090&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807090</a>]</span><br /> -
|
|
Decreased mineralization of skull (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4280533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4280533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004331</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004331</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Micromelic short limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807092</a>]</span><br /> -
|
|
Flared metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850135</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003015</a>]</span><br /> -
|
|
Long bone fractures prenatally <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807094</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydrocephalus <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 /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypocalcemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5291005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5291005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E83.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E83.51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/275.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">275.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020598</a>, <a href="https://bioportal.bioontology.org/search?q=C3665624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665624</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002901</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002901</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Death in utero or in early infancy is common<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
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|
|
|
</div>
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
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- Caused by mutation in the family with sequence similarity 111, member A, gene (FAM111A, <a href="/entry/615292#0002">615292.0002</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that gracile bone dysplasia (GCLEB) is caused by heterozygous mutation in the FAM111A gene (<a href="/entry/615292">615292</a>) on chromosome 11q12.</p><p>Autosomal dominant Kenny-Caffey syndrome (KCS2; <a href="/entry/127000">127000</a>) is also caused by mutation in the FAM11A gene.</p>
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<p>Gracile bone dysplasia (GCLEB) is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia (summary by <a href="#11" class="mim-tip-reference" title="Unger, S., Gorna, M. W., Le Bechec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoorthiri, S., and 12 others. <strong>FAM111A mutations result in hypoparathyroidism and impaired skeletal development.</strong> Am. J. Hum. Genet. 92: 990-995, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23684011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23684011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23684011[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23684011">Unger et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23684011" 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="#6" class="mim-tip-reference" title="Maroteaux, P., Cohen-Solal, L., Bonaventure, J., Peter, M. O., Francannet, C., Guibaud, P., Moraine, C. <strong>Syndromes letaux avec gracilite du squelette.</strong> Arch. Franc. Pediat. 45: 477-481, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3060039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3060039</a>]" pmid="3060039">Maroteaux et al. (1988)</a> reported a condition characterized by thin, brittle bones and perinatal death. <a href="#13" class="mim-tip-reference" title="Verloes, A., Narcy, F., Grattagliano, B., Delezoide, A.-L., Guibaud, P., Schaaps, J.-P., Le Merrer, M., Maroteaux, P. <strong>Osteocraniostenosis.</strong> J. Med. Genet. 31: 772-778, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7837254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7837254</a>] [<a href="https://doi.org/10.1136/jmg.31.10.772" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7837254">Verloes et al. (1994)</a> described a similar entity on the basis of 3 unrelated fetuses and a reevaluation of some patients in the report of <a href="#6" class="mim-tip-reference" title="Maroteaux, P., Cohen-Solal, L., Bonaventure, J., Peter, M. O., Francannet, C., Guibaud, P., Moraine, C. <strong>Syndromes letaux avec gracilite du squelette.</strong> Arch. Franc. Pediat. 45: 477-481, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3060039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3060039</a>]" pmid="3060039">Maroteaux et al. (1988)</a>. The 3 affected fetuses showed exceedingly thin, dense, fishbone-like diaphyses, flared metaphyses, mild micromelic dwarfism, brachydactyly, facial dysmorphism, ocular malformations (microphthalmia, aniridia), cloverleaf skull deformity, and splenic hypoplasia. Histopathologic investigations showed abnormalities of the metaphyseal cartilage and adjacent diaphyseal ossification, excessive modeling of the metaphyses, and, in 1 case, dysplasia of the epiphyseal cartilage. <a href="#13" class="mim-tip-reference" title="Verloes, A., Narcy, F., Grattagliano, B., Delezoide, A.-L., Guibaud, P., Schaaps, J.-P., Le Merrer, M., Maroteaux, P. <strong>Osteocraniostenosis.</strong> J. Med. Genet. 31: 772-778, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7837254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7837254</a>] [<a href="https://doi.org/10.1136/jmg.31.10.772" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7837254">Verloes et al. (1994)</a> referred to the condition as 'osteocraniostenosis.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7837254+3060039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Thomas, J. A., Rimoin, D. L., Lachman, R. S., Wilcox, W. R. <strong>Gracile bone dysplasia.</strong> Am. J. Med. Genet. 75: 95-100, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450865</a>]" pmid="9450865">Thomas et al. (1998)</a> reported a lethal skeletal dysplasia in male and female sibs. The parents were nonconsanguineous and of Asian-Indian background. The male infant, stillborn at 35 weeks of gestation, had microphthalmia, ankyloglossia, and abdominal ascites. The thorax was small with severe pulmonary hypoplasia. A subsequent pregnancy was terminated at 24 weeks of gestation because of suspected recurrence on ultrasound images. The female fetus had prominent forehead, flat nasal bridge, upturned nasal tip, and markedly distended abdomen. The limbs showed marked micromelic shortness with redundant skin folds, fifth finger hypoplasia and clinodactyly, and markedly short halluces. Chondroosseous morphology was strikingly abnormal. Autosomal recessive inheritance was considered likely. <a href="#10" class="mim-tip-reference" title="Thomas, J. A., Rimoin, D. L., Lachman, R. S., Wilcox, W. R. <strong>Gracile bone dysplasia.</strong> Am. J. Med. Genet. 75: 95-100, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450865</a>]" pmid="9450865">Thomas et al. (1998)</a> noted that a major mechanical factor in fetal bone modeling is muscle strength; thus, fetal hypokinesia results in bones that are slender and have reduced mass. Accordingly, any condition that results in fetal hypokinesia can result in gracile bones; however, in fetal hypokinesia, the chondroosseous structure is normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Costa, T., Azouz, E. M., Fitzpatrick, J., Kamel-Reid, S., Smith, C. R., Silver, M. M. <strong>Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition.</strong> Am. J. Med. Genet. 76: 125-132, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9511974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9511974</a>]" pmid="9511974">Costa et al. (1998)</a> described affected brothers; the mother had a dwarfing condition with asymmetry, suggesting that she may have had somatic/germline mosaicism for a dominant lethal gene. The male stillborn sibs died in utero in the third trimester. Both were found by ultrasound to have short limbs and probable long bone fractures late in the second trimester. At autopsy, one fetus had no spleen and the other a hypoplastic spleen. Radiographically, the 2 male sibs and another sporadic case had very thin diaphyses, diaphyseal fracture, and thin ribs and clavicles. The sibs had grossly deficient calvarial mineralization. Microscopically, endochondral ossification was qualitatively normal but quantitatively deficient in all 3 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9511974" 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="Brennan, P., Hall, C. <strong>Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype.</strong> Clin. Dysmorph. 11: 57-61, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11822707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11822707</a>] [<a href="https://doi.org/10.1097/00019605-200201000-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11822707">Brennan and Hall (2002)</a> reported a case of this rare skeletal dysplasia in a 31-week stillborn male fetus with ambiguous external genitalia and asymmetry in whom a 46,XX/46,XY karyotype was demonstrated in both cartilage and skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11822707" 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="Korniszewski, L., Arbuckle, S., Kozlowski, K. <strong>Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation.</strong> Am. J. Med. Genet. 118A: 343-349, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12687665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12687665</a>] [<a href="https://doi.org/10.1002/ajmg.a.10208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12687665">Korniszewski et al. (2003)</a> described 2 sisters with what they considered to be a unique form of lethal skeletal dysplasia with gracile bones. Born to nonconsanguineous Polish parents with 1 healthy daughter, both had severe intrauterine growth retardation (birth weights of 1300 grams and 1000 grams at 42 weeks of gestation, length and head circumference also below 3rd centile) and a history of decreased intrauterine activity with normal amniotic fluid volume on ultrasound. The sisters had coarse facies with prominent foreheads, relatively large noses, and mild hypertelorism. Despite tube and/or parental feeding, both infants did not gain weight. Radiographic studies demonstrated that the L5 vertebral body was rectangular, the L3 and L4 bodies were oval-shaped, and the thoracic bodies were pear-shaped. The ribs, clavicles, and long bones were thin with slightly flared metaphyses. The younger sister had a normal karyotype. The sisters died from pneumonia at 3 and 5 months of age. Autopsies revealed no congenital malformations. Pathologic examination of the ribs showed fairly normal resting cartilage but growth plate disorganization with short, sparse trabecular formation, poor columnization, decreased cellularity, and poor hypertrophy of the chondrocytes. Both sibs had hematopoietic marrow extending to the growth plate, a finding consistent with arrested growth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12687665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Verloes, A., Garel, C., Robertson, S., Le Merrer, M., Baumann, C. <strong>Gracile bones, periostal (sic) appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?</strong> Am. J. Med. Genet. 137A: 199-203, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16086393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16086393</a>] [<a href="https://doi.org/10.1002/ajmg.a.30360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16086393">Verloes et al. (2005)</a> described 2 brothers of Algerian ancestry with a distinctive disorder overlapping Melnick-Needles osteodysplasia (<a href="/entry/309350">309350</a>), Yunis-Varon syndrome (<a href="/entry/216340">216340</a>), and osteocraniostenosis that they suggested could represent a new syndrome. The brothers demonstrated ossification anomalies of membranous and cranial bones, remodeling defect of long bones leading to dense, overtubulated, narrow diaphyses, metaphyseal flare, periosteal hyperostosis that increased during the first months of life, thoracic dystrophy, and severe hypotonia. One boy had hypospadias and cleft palate. Follow-up of the surviving boy at age 3 documented progressive osteopenia, slow healing of the periosteal anomalies, liver angiomatosis, mental and motor delay, thoracic deformity, delay in tooth eruption, and progressive microcephaly with enlargement of the cerebral ventricles. The disorder shared some characteristics with osteocraniostenosis but lacked the cranial deformity and some other features. <a href="#12" class="mim-tip-reference" title="Verloes, A., Garel, C., Robertson, S., Le Merrer, M., Baumann, C. <strong>Gracile bones, periostal (sic) appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?</strong> Am. J. Med. Genet. 137A: 199-203, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16086393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16086393</a>] [<a href="https://doi.org/10.1002/ajmg.a.30360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16086393">Verloes et al. (2005)</a> suggested naming this entity 'habrodysplasia,' from the Greek root for 'gracile.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16086393" 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="#3" class="mim-tip-reference" title="Elliott, A. M., Wilcox, W. R., Spear, G. S., Field, F. M., Steffensen, T. S., Friedman, B. D., Rimoin, D. L., Lachman, R. S. <strong>Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.</strong> Am. J. Med. Genet. 140A: 1553-1563, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16770805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16770805</a>] [<a href="https://doi.org/10.1002/ajmg.a.31326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16770805">Elliott et al. (2006)</a> reported 4 infants, 2 unrelated and 2 sibs, with osteocraniostenosis. Common features included a cloverleaf-shaped skull with hypoplastic cranial bones, overtubulated long bones with metaphyseal rounding, dysmorphic facies, and splenic hypoplasia. Histologic examination of bone in all cases showed an abnormal growth plate with short irregular columns. The resting cartilage showed pleomorphic chondrocytes with increased cellularity and unique pseudocolumn formation. Radiographic studies also showed that the abnormal skulls were due to hypoplastic cranial bones rather than true craniosynostosis. <a href="#3" class="mim-tip-reference" title="Elliott, A. M., Wilcox, W. R., Spear, G. S., Field, F. M., Steffensen, T. S., Friedman, B. D., Rimoin, D. L., Lachman, R. S. <strong>Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.</strong> Am. J. Med. Genet. 140A: 1553-1563, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16770805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16770805</a>] [<a href="https://doi.org/10.1002/ajmg.a.31326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16770805">Elliott et al. (2006)</a> noted some radiographic and histologic similarities to Hallermann-Streiff syndrome (HSS; <a href="/entry/234100">234100</a>). The authors concluded that the term 'osteocraniostenosis' is an inaccurate term to describe this syndrome and suggested 'osteocraniosplenic syndrome' (see NOMENCLATURE below). <a href="#9" class="mim-tip-reference" title="Spear, G. S. <strong>Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, 'osteocraniostenosis' and Kleeblattschaedel.</strong> Am. J. Med. Genet. 140A: 2341-2348, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17036309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17036309</a>] [<a href="https://doi.org/10.1002/ajmg.a.31473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17036309">Spear (2006)</a> reported further clinical details of an affected Korean boy reported by <a href="#3" class="mim-tip-reference" title="Elliott, A. M., Wilcox, W. R., Spear, G. S., Field, F. M., Steffensen, T. S., Friedman, B. D., Rimoin, D. L., Lachman, R. S. <strong>Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.</strong> Am. J. Med. Genet. 140A: 1553-1563, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16770805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16770805</a>] [<a href="https://doi.org/10.1002/ajmg.a.31326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16770805">Elliott et al. (2006)</a> who died of cardiac arrest at 9 hours of age. Postmortem examination showed absence of the parietal bones of the skull, hypomineralization of the calvaria, polymicrogyria, Kleeblattschaedel (cloverleaf skull anomaly), thin clavicles and ribs, overtubulated, gracile, bowed long bones, micromelia, fractures, dysmorphic facies, malformations of the eyes, and splenic hypoplasia. <a href="#9" class="mim-tip-reference" title="Spear, G. S. <strong>Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, 'osteocraniostenosis' and Kleeblattschaedel.</strong> Am. J. Med. Genet. 140A: 2341-2348, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17036309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17036309</a>] [<a href="https://doi.org/10.1002/ajmg.a.31473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17036309">Spear (2006)</a> speculated that homeobox genes (see, e.g., MSX2; <a href="/entry/123101">123101</a>) may be involved in the pathogenesis of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16770805+17036309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Smith, A., Mehta, S., Bullen, P., Clayton-Smith, J. <strong>Osteocraniostenosis: a further case report documenting the antenatal findings.</strong> Clin. Dysmorph. 16: 117-120, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17351358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17351358</a>] [<a href="https://doi.org/10.1097/01.mcd.0000220619.78273.a5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17351358">Smith et al. (2007)</a> reported antenatal findings of gracile bone dysplasia in a female born to healthy, unrelated parents. The infant was noted at birth to have hypoplastic genitalia with some fusion of the labia, which had not previously been described in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17351358" 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="Nyholm, J. L., Lindor, N. M., Thomas, K. B., Brost, B. C. <strong>Slender bone dysplasia (gracile). (Letter)</strong> Am. J. Med. Genet. 146A: 3234-3236, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006220</a>] [<a href="https://doi.org/10.1002/ajmg.a.31979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006220">Nyholm et al. (2008)</a> described a liveborn infant with slender bone dysplasia (gracile) with early fatal outcome and suggested that the prenatal diagnosis of the disorder should be suspected when shortened limbs, acrocephalic skull, bowed radii or ulna, and fractures are seen on ultrasound. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The heterozygous mutations in the FAM111A gene that were identified in patients with GCLEB by <a href="#11" class="mim-tip-reference" title="Unger, S., Gorna, M. W., Le Bechec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoorthiri, S., and 12 others. <strong>FAM111A mutations result in hypoparathyroidism and impaired skeletal development.</strong> Am. J. Hum. Genet. 92: 990-995, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23684011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23684011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23684011[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23684011">Unger et al. (2013)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23684011" 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 5 patients with gracile bone dysplasia and 5 patients with autosomal dominant Kenny-Caffey syndrome (KCS2; <a href="/entry/127000">127000</a>), <a href="#11" class="mim-tip-reference" title="Unger, S., Gorna, M. W., Le Bechec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoorthiri, S., and 12 others. <strong>FAM111A mutations result in hypoparathyroidism and impaired skeletal development.</strong> Am. J. Hum. Genet. 92: 990-995, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23684011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23684011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23684011[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23684011">Unger et al. (2013)</a> identified heterozygous mutations in the FAM111A gene (see <a href="/entry/615292#0001">615292.0001</a>-<a href="/entry/615292#0006">615292.0006</a>). In the 7 families in which DNA was available from both parents, the mutations were confirmed to have arisen de novo. None of the mutations were found in the 1000 Genomes Project or NHLBI Exome Variant Server databases. The authors concluded that KCS2 and gracile bone dysplasia represent allelic disorders of differing severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23684011" 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="#9" class="mim-tip-reference" title="Spear, G. S. <strong>Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, 'osteocraniostenosis' and Kleeblattschaedel.</strong> Am. J. Med. Genet. 140A: 2341-2348, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17036309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17036309</a>] [<a href="https://doi.org/10.1002/ajmg.a.31473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17036309">Spear (2006)</a> noted that the term 'craniostenosis,' or premature fusion of cranial sutures, has been replaced by 'craniosynostosis.' In a detailed review of the literature concerning clinical reports of gracile bone dysplasia, <a href="#9" class="mim-tip-reference" title="Spear, G. S. <strong>Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, 'osteocraniostenosis' and Kleeblattschaedel.</strong> Am. J. Med. Genet. 140A: 2341-2348, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17036309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17036309</a>] [<a href="https://doi.org/10.1002/ajmg.a.31473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17036309">Spear (2006)</a> found that craniostenosis was clearly recorded in only 2 patients (<a href="#13" class="mim-tip-reference" title="Verloes, A., Narcy, F., Grattagliano, B., Delezoide, A.-L., Guibaud, P., Schaaps, J.-P., Le Merrer, M., Maroteaux, P. <strong>Osteocraniostenosis.</strong> J. Med. Genet. 31: 772-778, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7837254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7837254</a>] [<a href="https://doi.org/10.1136/jmg.31.10.772" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7837254">Verloes et al., 1994</a>; <a href="#5" class="mim-tip-reference" title="Kozlowski, K., Masel, J., Sillence, D. O., Arbuckle, S., Juttnerova, V. <strong>Gracile bone dysplasias.</strong> Pediat. Radiol. 32: 629-634, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12195301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12195301</a>] [<a href="https://doi.org/10.1007/s00247-002-0719-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12195301">Kozlowski et al., 2002</a>), 1 of whom had fusion limited to a 1- to 2-cm segment. Indeed, most patients reportedly had widened sutures. <a href="#9" class="mim-tip-reference" title="Spear, G. S. <strong>Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, 'osteocraniostenosis' and Kleeblattschaedel.</strong> Am. J. Med. Genet. 140A: 2341-2348, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17036309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17036309</a>] [<a href="https://doi.org/10.1002/ajmg.a.31473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17036309">Spear (2006)</a> concurred with <a href="#3" class="mim-tip-reference" title="Elliott, A. M., Wilcox, W. R., Spear, G. S., Field, F. M., Steffensen, T. S., Friedman, B. D., Rimoin, D. L., Lachman, R. S. <strong>Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.</strong> Am. J. Med. Genet. 140A: 1553-1563, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16770805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16770805</a>] [<a href="https://doi.org/10.1002/ajmg.a.31326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16770805">Elliott et al. (2006)</a>, who suggested the term 'osteocraniosplenic syndrome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16770805+17036309+12195301+7837254" 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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Brennan, P., Hall, C.
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<strong>Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype.</strong>
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Clin. Dysmorph. 11: 57-61, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11822707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11822707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11822707" 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/10.1097/00019605-200201000-00012" target="_blank">Full Text</a>]
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Costa, T., Azouz, E. M., Fitzpatrick, J., Kamel-Reid, S., Smith, C. R., Silver, M. M.
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<strong>Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition.</strong>
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Am. J. Med. Genet. 76: 125-132, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9511974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9511974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9511974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Elliott, A. M., Wilcox, W. R., Spear, G. S., Field, F. M., Steffensen, T. S., Friedman, B. D., Rimoin, D. L., Lachman, R. S.
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<strong>Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.</strong>
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Am. J. Med. Genet. 140A: 1553-1563, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16770805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16770805</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16770805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Korniszewski, L., Arbuckle, S., Kozlowski, K.
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<strong>Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation.</strong>
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Am. J. Med. Genet. 118A: 343-349, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12687665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12687665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12687665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kozlowski, K., Masel, J., Sillence, D. O., Arbuckle, S., Juttnerova, V.
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<strong>Gracile bone dysplasias.</strong>
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Pediat. Radiol. 32: 629-634, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12195301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12195301</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12195301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00247-002-0719-2" target="_blank">Full Text</a>]
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Maroteaux, P., Cohen-Solal, L., Bonaventure, J., Peter, M. O., Francannet, C., Guibaud, P., Moraine, C.
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<strong>Syndromes letaux avec gracilite du squelette.</strong>
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Arch. Franc. Pediat. 45: 477-481, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3060039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3060039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3060039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Nyholm2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nyholm, J. L., Lindor, N. M., Thomas, K. B., Brost, B. C.
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|
<strong>Slender bone dysplasia (gracile). (Letter)</strong>
|
|
Am. J. Med. Genet. 146A: 3234-3236, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31979" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Smith2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith, A., Mehta, S., Bullen, P., Clayton-Smith, J.
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<strong>Osteocraniostenosis: a further case report documenting the antenatal findings.</strong>
|
|
Clin. Dysmorph. 16: 117-120, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17351358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17351358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17351358" 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/10.1097/01.mcd.0000220619.78273.a5" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Spear2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spear, G. S.
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|
<strong>Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, 'osteocraniostenosis' and Kleeblattschaedel.</strong>
|
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Am. J. Med. Genet. 140A: 2341-2348, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17036309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17036309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17036309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31473" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Thomas1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thomas, J. A., Rimoin, D. L., Lachman, R. S., Wilcox, W. R.
|
|
<strong>Gracile bone dysplasia.</strong>
|
|
Am. J. Med. Genet. 75: 95-100, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450865</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Unger2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Unger, S., Gorna, M. W., Le Bechec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoorthiri, S., and 12 others.
|
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<strong>FAM111A mutations result in hypoparathyroidism and impaired skeletal development.</strong>
|
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Am. J. Hum. Genet. 92: 990-995, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23684011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23684011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23684011[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23684011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.04.020" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Verloes2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Verloes, A., Garel, C., Robertson, S., Le Merrer, M., Baumann, C.
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<strong>Gracile bones, periostal (sic) appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?</strong>
|
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Am. J. Med. Genet. 137A: 199-203, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16086393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16086393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16086393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30360" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Verloes1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Verloes, A., Narcy, F., Grattagliano, B., Delezoide, A.-L., Guibaud, P., Schaaps, J.-P., Le Merrer, M., Maroteaux, P.
|
|
<strong>Osteocraniostenosis.</strong>
|
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J. Med. Genet. 31: 772-778, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7837254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7837254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7837254" 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.31.10.772" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 07/23/2013
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Nara Sobreira - updated : 9/4/2009<br>Nara Sobreira - updated : 6/4/2009<br>Cassandra L. Kniffin - updated : 8/7/2007<br>Cassandra L. Kniffin - updated : 12/21/2006<br>Cassandra L. Kniffin - updated : 8/22/2006<br>Victor A. McKusick - updated : 3/21/2006<br>Deborah L. Stone - updated : 2/18/2005<br>Siobhan M. Dolan - updated : 10/19/2004<br>Victor A. McKusick - updated : 5/15/2002<br>Victor A. McKusick - updated : 3/26/1998
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 2/17/1998
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</span>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/20/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/25/2023<br>alopez : 07/15/2021<br>carol : 07/23/2013<br>carol : 9/8/2009<br>terry : 9/4/2009<br>carol : 6/4/2009<br>terry : 6/4/2009<br>ckniffin : 8/7/2007<br>wwang : 1/22/2007<br>ckniffin : 12/21/2006<br>wwang : 8/25/2006<br>ckniffin : 8/22/2006<br>alopez : 3/23/2006<br>terry : 3/21/2006<br>wwang : 2/18/2005<br>carol : 10/19/2004<br>alopez : 5/16/2002<br>terry : 5/15/2002<br>carol : 5/6/1998<br>carol : 4/6/1998<br>joanna : 3/26/1998<br>dholmes : 2/26/1998<br>dholmes : 2/24/1998<br>dholmes : 2/18/1998
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 602361
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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GRACILE BONE DYSPLASIA; GCLEB
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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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<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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<h4>
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<span class="mim-font">
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SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES<br />
|
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OSTEOCRANIOSPLENIC SYNDROME<br />
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OSTEOCRANIOSTENOSIS<br />
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HABRODYSPLASIA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 722109008;
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<strong>ORPHA:</strong> 2763;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
|
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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11q12.1
|
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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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Gracile bone dysplasia
|
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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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602361
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
FAM111A
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
615292
|
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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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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that gracile bone dysplasia (GCLEB) is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.</p><p>Autosomal dominant Kenny-Caffey syndrome (KCS2; 127000) is also caused by mutation in the FAM11A gene.</p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Gracile bone dysplasia (GCLEB) is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia (summary by Unger et al., 2013). </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Maroteaux et al. (1988) reported a condition characterized by thin, brittle bones and perinatal death. Verloes et al. (1994) described a similar entity on the basis of 3 unrelated fetuses and a reevaluation of some patients in the report of Maroteaux et al. (1988). The 3 affected fetuses showed exceedingly thin, dense, fishbone-like diaphyses, flared metaphyses, mild micromelic dwarfism, brachydactyly, facial dysmorphism, ocular malformations (microphthalmia, aniridia), cloverleaf skull deformity, and splenic hypoplasia. Histopathologic investigations showed abnormalities of the metaphyseal cartilage and adjacent diaphyseal ossification, excessive modeling of the metaphyses, and, in 1 case, dysplasia of the epiphyseal cartilage. Verloes et al. (1994) referred to the condition as 'osteocraniostenosis.' </p><p>Thomas et al. (1998) reported a lethal skeletal dysplasia in male and female sibs. The parents were nonconsanguineous and of Asian-Indian background. The male infant, stillborn at 35 weeks of gestation, had microphthalmia, ankyloglossia, and abdominal ascites. The thorax was small with severe pulmonary hypoplasia. A subsequent pregnancy was terminated at 24 weeks of gestation because of suspected recurrence on ultrasound images. The female fetus had prominent forehead, flat nasal bridge, upturned nasal tip, and markedly distended abdomen. The limbs showed marked micromelic shortness with redundant skin folds, fifth finger hypoplasia and clinodactyly, and markedly short halluces. Chondroosseous morphology was strikingly abnormal. Autosomal recessive inheritance was considered likely. Thomas et al. (1998) noted that a major mechanical factor in fetal bone modeling is muscle strength; thus, fetal hypokinesia results in bones that are slender and have reduced mass. Accordingly, any condition that results in fetal hypokinesia can result in gracile bones; however, in fetal hypokinesia, the chondroosseous structure is normal. </p><p>Costa et al. (1998) described affected brothers; the mother had a dwarfing condition with asymmetry, suggesting that she may have had somatic/germline mosaicism for a dominant lethal gene. The male stillborn sibs died in utero in the third trimester. Both were found by ultrasound to have short limbs and probable long bone fractures late in the second trimester. At autopsy, one fetus had no spleen and the other a hypoplastic spleen. Radiographically, the 2 male sibs and another sporadic case had very thin diaphyses, diaphyseal fracture, and thin ribs and clavicles. The sibs had grossly deficient calvarial mineralization. Microscopically, endochondral ossification was qualitatively normal but quantitatively deficient in all 3 cases. </p><p>Brennan and Hall (2002) reported a case of this rare skeletal dysplasia in a 31-week stillborn male fetus with ambiguous external genitalia and asymmetry in whom a 46,XX/46,XY karyotype was demonstrated in both cartilage and skin. </p><p>Korniszewski et al. (2003) described 2 sisters with what they considered to be a unique form of lethal skeletal dysplasia with gracile bones. Born to nonconsanguineous Polish parents with 1 healthy daughter, both had severe intrauterine growth retardation (birth weights of 1300 grams and 1000 grams at 42 weeks of gestation, length and head circumference also below 3rd centile) and a history of decreased intrauterine activity with normal amniotic fluid volume on ultrasound. The sisters had coarse facies with prominent foreheads, relatively large noses, and mild hypertelorism. Despite tube and/or parental feeding, both infants did not gain weight. Radiographic studies demonstrated that the L5 vertebral body was rectangular, the L3 and L4 bodies were oval-shaped, and the thoracic bodies were pear-shaped. The ribs, clavicles, and long bones were thin with slightly flared metaphyses. The younger sister had a normal karyotype. The sisters died from pneumonia at 3 and 5 months of age. Autopsies revealed no congenital malformations. Pathologic examination of the ribs showed fairly normal resting cartilage but growth plate disorganization with short, sparse trabecular formation, poor columnization, decreased cellularity, and poor hypertrophy of the chondrocytes. Both sibs had hematopoietic marrow extending to the growth plate, a finding consistent with arrested growth. </p><p>Verloes et al. (2005) described 2 brothers of Algerian ancestry with a distinctive disorder overlapping Melnick-Needles osteodysplasia (309350), Yunis-Varon syndrome (216340), and osteocraniostenosis that they suggested could represent a new syndrome. The brothers demonstrated ossification anomalies of membranous and cranial bones, remodeling defect of long bones leading to dense, overtubulated, narrow diaphyses, metaphyseal flare, periosteal hyperostosis that increased during the first months of life, thoracic dystrophy, and severe hypotonia. One boy had hypospadias and cleft palate. Follow-up of the surviving boy at age 3 documented progressive osteopenia, slow healing of the periosteal anomalies, liver angiomatosis, mental and motor delay, thoracic deformity, delay in tooth eruption, and progressive microcephaly with enlargement of the cerebral ventricles. The disorder shared some characteristics with osteocraniostenosis but lacked the cranial deformity and some other features. Verloes et al. (2005) suggested naming this entity 'habrodysplasia,' from the Greek root for 'gracile.' </p><p>Elliott et al. (2006) reported 4 infants, 2 unrelated and 2 sibs, with osteocraniostenosis. Common features included a cloverleaf-shaped skull with hypoplastic cranial bones, overtubulated long bones with metaphyseal rounding, dysmorphic facies, and splenic hypoplasia. Histologic examination of bone in all cases showed an abnormal growth plate with short irregular columns. The resting cartilage showed pleomorphic chondrocytes with increased cellularity and unique pseudocolumn formation. Radiographic studies also showed that the abnormal skulls were due to hypoplastic cranial bones rather than true craniosynostosis. Elliott et al. (2006) noted some radiographic and histologic similarities to Hallermann-Streiff syndrome (HSS; 234100). The authors concluded that the term 'osteocraniostenosis' is an inaccurate term to describe this syndrome and suggested 'osteocraniosplenic syndrome' (see NOMENCLATURE below). Spear (2006) reported further clinical details of an affected Korean boy reported by Elliott et al. (2006) who died of cardiac arrest at 9 hours of age. Postmortem examination showed absence of the parietal bones of the skull, hypomineralization of the calvaria, polymicrogyria, Kleeblattschaedel (cloverleaf skull anomaly), thin clavicles and ribs, overtubulated, gracile, bowed long bones, micromelia, fractures, dysmorphic facies, malformations of the eyes, and splenic hypoplasia. Spear (2006) speculated that homeobox genes (see, e.g., MSX2; 123101) may be involved in the pathogenesis of the disorder. </p><p>Smith et al. (2007) reported antenatal findings of gracile bone dysplasia in a female born to healthy, unrelated parents. The infant was noted at birth to have hypoplastic genitalia with some fusion of the labia, which had not previously been described in this disorder. </p><p>Nyholm et al. (2008) described a liveborn infant with slender bone dysplasia (gracile) with early fatal outcome and suggested that the prenatal diagnosis of the disorder should be suspected when shortened limbs, acrocephalic skull, bowed radii or ulna, and fractures are seen on ultrasound. </p>
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<strong>Inheritance</strong>
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<p>The heterozygous mutations in the FAM111A gene that were identified in patients with GCLEB by Unger et al. (2013) occurred de novo. </p>
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<p>In 5 patients with gracile bone dysplasia and 5 patients with autosomal dominant Kenny-Caffey syndrome (KCS2; 127000), Unger et al. (2013) identified heterozygous mutations in the FAM111A gene (see 615292.0001-615292.0006). In the 7 families in which DNA was available from both parents, the mutations were confirmed to have arisen de novo. None of the mutations were found in the 1000 Genomes Project or NHLBI Exome Variant Server databases. The authors concluded that KCS2 and gracile bone dysplasia represent allelic disorders of differing severity. </p>
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<strong>Nomenclature</strong>
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<p>Spear (2006) noted that the term 'craniostenosis,' or premature fusion of cranial sutures, has been replaced by 'craniosynostosis.' In a detailed review of the literature concerning clinical reports of gracile bone dysplasia, Spear (2006) found that craniostenosis was clearly recorded in only 2 patients (Verloes et al., 1994; Kozlowski et al., 2002), 1 of whom had fusion limited to a 1- to 2-cm segment. Indeed, most patients reportedly had widened sutures. Spear (2006) concurred with Elliott et al. (2006), who suggested the term 'osteocraniosplenic syndrome.' </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Brennan, P., Hall, C.
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<strong>Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype.</strong>
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Clin. Dysmorph. 11: 57-61, 2002.
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[PubMed: 11822707]
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[Full Text: https://doi.org/10.1097/00019605-200201000-00012]
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Costa, T., Azouz, E. M., Fitzpatrick, J., Kamel-Reid, S., Smith, C. R., Silver, M. M.
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<strong>Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition.</strong>
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Am. J. Med. Genet. 76: 125-132, 1998.
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[PubMed: 9511974]
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<p class="mim-text-font">
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Elliott, A. M., Wilcox, W. R., Spear, G. S., Field, F. M., Steffensen, T. S., Friedman, B. D., Rimoin, D. L., Lachman, R. S.
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<strong>Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.</strong>
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Am. J. Med. Genet. 140A: 1553-1563, 2006.
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[PubMed: 16770805]
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[Full Text: https://doi.org/10.1002/ajmg.a.31326]
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Korniszewski, L., Arbuckle, S., Kozlowski, K.
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<strong>Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation.</strong>
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Am. J. Med. Genet. 118A: 343-349, 2003.
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[PubMed: 12687665]
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[Full Text: https://doi.org/10.1002/ajmg.a.10208]
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Kozlowski, K., Masel, J., Sillence, D. O., Arbuckle, S., Juttnerova, V.
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<strong>Gracile bone dysplasias.</strong>
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Pediat. Radiol. 32: 629-634, 2002.
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[PubMed: 12195301]
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[Full Text: https://doi.org/10.1007/s00247-002-0719-2]
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Maroteaux, P., Cohen-Solal, L., Bonaventure, J., Peter, M. O., Francannet, C., Guibaud, P., Moraine, C.
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<strong>Syndromes letaux avec gracilite du squelette.</strong>
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Arch. Franc. Pediat. 45: 477-481, 1988.
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[PubMed: 3060039]
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Nyholm, J. L., Lindor, N. M., Thomas, K. B., Brost, B. C.
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<strong>Slender bone dysplasia (gracile). (Letter)</strong>
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Am. J. Med. Genet. 146A: 3234-3236, 2008.
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[PubMed: 19006220]
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[Full Text: https://doi.org/10.1002/ajmg.a.31979]
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Smith, A., Mehta, S., Bullen, P., Clayton-Smith, J.
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<strong>Osteocraniostenosis: a further case report documenting the antenatal findings.</strong>
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Clin. Dysmorph. 16: 117-120, 2007.
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[PubMed: 17351358]
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[Full Text: https://doi.org/10.1097/01.mcd.0000220619.78273.a5]
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Spear, G. S.
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<strong>Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, 'osteocraniostenosis' and Kleeblattschaedel.</strong>
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Am. J. Med. Genet. 140A: 2341-2348, 2006.
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[PubMed: 17036309]
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[Full Text: https://doi.org/10.1002/ajmg.a.31473]
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Thomas, J. A., Rimoin, D. L., Lachman, R. S., Wilcox, W. R.
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<strong>Gracile bone dysplasia.</strong>
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Am. J. Med. Genet. 75: 95-100, 1998.
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[PubMed: 9450865]
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Unger, S., Gorna, M. W., Le Bechec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoorthiri, S., and 12 others.
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<strong>FAM111A mutations result in hypoparathyroidism and impaired skeletal development.</strong>
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Am. J. Hum. Genet. 92: 990-995, 2013.
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[PubMed: 23684011]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.04.020]
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Verloes, A., Garel, C., Robertson, S., Le Merrer, M., Baumann, C.
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<strong>Gracile bones, periostal (sic) appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?</strong>
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Am. J. Med. Genet. 137A: 199-203, 2005.
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[PubMed: 16086393]
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[Full Text: https://doi.org/10.1002/ajmg.a.30360]
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Verloes, A., Narcy, F., Grattagliano, B., Delezoide, A.-L., Guibaud, P., Schaaps, J.-P., Le Merrer, M., Maroteaux, P.
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<strong>Osteocraniostenosis.</strong>
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J. Med. Genet. 31: 772-778, 1994.
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[PubMed: 7837254]
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[Full Text: https://doi.org/10.1136/jmg.31.10.772]
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Marla J. F. O'Neill - updated : 07/23/2013<br>Nara Sobreira - updated : 9/4/2009<br>Nara Sobreira - updated : 6/4/2009<br>Cassandra L. Kniffin - updated : 8/7/2007<br>Cassandra L. Kniffin - updated : 12/21/2006<br>Cassandra L. Kniffin - updated : 8/22/2006<br>Victor A. McKusick - updated : 3/21/2006<br>Deborah L. Stone - updated : 2/18/2005<br>Siobhan M. Dolan - updated : 10/19/2004<br>Victor A. McKusick - updated : 5/15/2002<br>Victor A. McKusick - updated : 3/26/1998
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Victor A. McKusick : 2/17/1998
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carol : 12/20/2023<br>carol : 09/25/2023<br>alopez : 07/15/2021<br>carol : 07/23/2013<br>carol : 9/8/2009<br>terry : 9/4/2009<br>carol : 6/4/2009<br>terry : 6/4/2009<br>ckniffin : 8/7/2007<br>wwang : 1/22/2007<br>ckniffin : 12/21/2006<br>wwang : 8/25/2006<br>ckniffin : 8/22/2006<br>alopez : 3/23/2006<br>terry : 3/21/2006<br>wwang : 2/18/2005<br>carol : 10/19/2004<br>alopez : 5/16/2002<br>terry : 5/15/2002<br>carol : 5/6/1998<br>carol : 4/6/1998<br>joanna : 3/26/1998<br>dholmes : 2/26/1998<br>dholmes : 2/24/1998<br>dholmes : 2/18/1998
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Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
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Printed: March 5, 2025
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To ensure long-term funding for the OMIM project, we have diversified
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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