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Entry
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- #184255 - SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; SMDCF
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- OMIM
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<span class="h4">#184255</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/184255"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS184255"> <strong>Phenotypic Series</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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE" 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=12252&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/NBK555103/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=184255[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=93315" 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/ba5af9da-6002-42ea-85f9-5b6ce41edd53/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0112297" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/184255" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 254078005<br />
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<strong>ORPHA:</strong> 93315<br />
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<strong>DO:</strong> 0112297<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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184255
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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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SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; SMDCF
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</span>
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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SPONDYLOMETAPHYSEAL DYSPLASIA, SUTCLIFFE TYPE
|
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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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
|
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<th>
|
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Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/2/985?start=-3&limit=10&highlight=985">
|
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2q35
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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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Spondylometaphyseal dysplasia, corner fracture type
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184255"> 184255 </a>
|
|
</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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FN1
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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/135600"> 135600 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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|
<a href="/clinicalSynopsis/184255" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS184255" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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|
<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/184255" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/184255" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
|
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<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>
|
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|
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|
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|
|
|
|
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|
|
|
|
<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">
|
|
|
|
- Pectus carinatum (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205101001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205101001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38774000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38774000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939416</a>, <a href="https://bioportal.bioontology.org/search?q=C0158731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
|
|
Ovoid vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855665</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coxa vara, developmental (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3179037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3179037</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">
|
|
|
|
- Irregular metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838662</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003025</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003025</a>]</span><br /> -
|
|
Corner fractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003908" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003908</a>]</span><br /> -
|
|
Genu varum (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299331007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299331007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64925008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64925008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.16</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0544755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544755</a>, <a href="https://bioportal.bioontology.org/search?q=C0158485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span><br /> -
|
|
Leg length discrepancy (in one patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707738004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707738004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3873168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3873168</a>, <a href="https://bioportal.bioontology.org/search?q=C0023221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023221</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100559" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100559</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100559" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100559</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
</div>
|
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|
|
</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the fibronectin-1 gene (FN1, <a href="/entry/135600#0004">135600.0004</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
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Spondylometaphyseal dysplasia
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- <a href="/phenotypicSeries/PS184255">PS184255</a>
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- 12 Entries
|
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</h5>
|
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</div>
|
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
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<thead>
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<tr>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
|
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
|
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</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
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</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
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</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
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|
|
<a href="/geneMap/2/985?start=-3&limit=10&highlight=985"> 2q35 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184255"> Spondylometaphyseal dysplasia, corner fracture type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184255"> 184255 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/135600"> FN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/135600"> 135600 </a>
|
|
</span>
|
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</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/360?start=-3&limit=10&highlight=360"> 4q21.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619638"> Spondylometaphyseal dysplasia, Pagnamenta type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619638"> 619638 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601591"> PRKG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601591"> 601591 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325"> 12q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184253"> Spondylometaphyseal dysplasia, Algerian type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184253"> 184253 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> COL2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> 120140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325"> 12q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184250"> SMED Strudwick type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184250"> 184250 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> COL2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> 120140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325"> 12q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/156550"> Kniest dysplasia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/156550"> 156550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> COL2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> 120140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184252"> Spondylometaphyseal dysplasia, Kozlowski type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184252"> 184252 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605427"> TRPV4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605427"> 605427 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/155?start=-3&limit=10&highlight=155"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613320"> Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613320"> 613320 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614336"> PAM16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614336"> 614336 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/44?start=-3&limit=10&highlight=44"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/250220"> Spondylometaphyseal dysplasia, Sedaghatian type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/250220"> 250220 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138322"> GPX4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138322"> 138322 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/307?start=-3&limit=10&highlight=307"> 19p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607944"> Spondyloenchondrodysplasia with immune dysregulation </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607944"> 607944 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171640"> ACP5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171640"> 171640 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/159?start=-3&limit=10&highlight=159"> 21q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602271"> Spondylometaphyseal dysplasia, axial </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602271"> 602271 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603191"> CFAP410 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603191"> 603191 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
Not Mapped
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313420"> Spondylometaphyseal dysplasia, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313420"> 313420 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313420"> SMDXL </a>
|
|
</span>
|
|
</td>
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<a href="/entry/609052"> Spondylometaphyseal dysplasia, type A4 </a>
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<p>A number sign (#) is used with this entry because of evidence that the corner fracture type of spondylometaphyseal dysplasia (SMDCF) is caused by heterozygous mutation in the fibronectin gene (FN1; <a href="/entry/135600">135600</a>) on chromosome 2q35.</p>
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<p>The corner fracture type of spondylometaphyseal dysplasia (SMDCF) is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These 'corner fractures,' which involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur, represent irregular ossification at the growth plates and secondary ossification centers. They become larger in older children and disappear after growth has stopped. In addition, severe scoliosis has been observed in FN1-associated SMDCF, whereas developmental coxa vara is less often seen, and odontoid abnormalities have not been reported (summary by <a href="#5" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[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.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29100092" 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 11 patients, including a father and daughter and a mother and 2 children, <a href="#4" class="mim-tip-reference" title="Langer, L. O., Jr., Brill, P. W., Ozonoff, M. B., Pauli, R. M., Wilson, W. G., Alford, B. A., Pavlov, H., Drake, D. G. <strong>Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.</strong> Radiology 175: 761-766, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2343127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2343127</a>] [<a href="https://doi.org/10.1148/radiology.175.3.2343127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2343127">Langer et al. (1990)</a> described an apparently unique skeletal dysplasia associated with short stature and developmental coxa vara. Progressive hip deformity usually resulted in a significant disability requiring surgical correction. The diagnostic constellation comprised coxa vara, simulated 'corner fractures' of long tubular bones, and vertebral body abnormalities. They pictured x-rays of patients with large triangular fragments situated laterally in the distal tibial metaphyses on the ulnar aspect of the distal radius and in the proximal humerus. The vertebral body endplates were more convex than usual for the patient's age. Some hypoplasia of the anterior part of the bodies created an appearance of anterior wedging. By the time a gait disturbance was identified, at about 2 years of age, characteristic radiographic changes were present in the hips. Continued slippage of the femoral capital epiphysis resulted in an angle between the long axis of the femoral capital epiphysis and the femoral shaft of 90 degrees or less. This type of deformity is referred to as developmental coxa vara. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2343127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Also called the Sutcliffe type of spondylometaphyseal dysplasia (<a href="#7" class="mim-tip-reference" title="Sutcliffe, J. <strong>Metaphyseal dysostosis.</strong> Ann. Radiol. 9: 215-223, 1966."None>Sutcliffe, 1966</a>), cases of SMD 'corner fractures' type were described by <a href="#2" class="mim-tip-reference" title="Felman, A. H., Frias, J. L., Rennert, O. M. <strong>Spondylometaphyseal dysplasia: a variant form.</strong> Radiology 113: 409-415, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4419008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4419008</a>] [<a href="https://doi.org/10.1148/113.2.409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4419008">Felman et al. (1974)</a>, <a href="#4" class="mim-tip-reference" title="Langer, L. O., Jr., Brill, P. W., Ozonoff, M. B., Pauli, R. M., Wilson, W. G., Alford, B. A., Pavlov, H., Drake, D. G. <strong>Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.</strong> Radiology 175: 761-766, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2343127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2343127</a>] [<a href="https://doi.org/10.1148/radiology.175.3.2343127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2343127">Langer et al. (1990)</a>, <a href="#3" class="mim-tip-reference" title="Kozlowski, K., Napiontek, M., Beim, E. R. <strong>Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity.</strong> Canad. Assoc. Radiol. J. 43: 364-368, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1393702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1393702</a>]" pmid="1393702">Kozlowski et al. (1992)</a>, and <a href="#1" class="mim-tip-reference" title="Currarino, G., Birch, J. G., Herring, J. A. <strong>Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): 'SMD-corner fracture type' (DCV/SMD-CF) demonstrated in most reported cases.</strong> Pediat. Radiol. 30: 14-24, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10663502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10663502</a>] [<a href="https://doi.org/10.1007/s002470050005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10663502">Currarino et al. (2000)</a>. The features of these cases were proportional short stature, mild vertebral abnormalities, developmental coxa vara in most cases, metaphyseal abnormalities that included flakelike, triangular, or curvilinear ossification centers at the edges of the metaphyses (corner fractures), and deficiency or absence of ossification of the odontoid process. Mild short stature in childhood was a feature. This type of SMD differs from the Kozlowski type (<a href="/entry/184252">184252</a>) by the presence of corner fractures, absence of marked platyspondyly, absence of kyphoscoliosis, and milder involvement of short tubular bones (<a href="#4" class="mim-tip-reference" title="Langer, L. O., Jr., Brill, P. W., Ozonoff, M. B., Pauli, R. M., Wilson, W. G., Alford, B. A., Pavlov, H., Drake, D. G. <strong>Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.</strong> Radiology 175: 761-766, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2343127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2343127</a>] [<a href="https://doi.org/10.1148/radiology.175.3.2343127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2343127">Langer et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4419008+10663502+1393702+2343127" 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="Sutton, V. R., Hyland, J. C., Phillips, W. A., Schlesinger, A. E., Brill, P. W. <strong>A dominantly inherited spondylometaphyseal dysplasia with 'corner fractures' and congenital scoliosis.</strong> Am. J. Med. Genet. 133A: 209-212, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15666313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15666313</a>] [<a href="https://doi.org/10.1002/ajmg.a.30567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15666313">Sutton et al. (2005)</a> reported a mother and 2 sons with a dominantly inherited SMD with corner fractures and severe, congenital scoliosis but neither coxa vara nor odontoid abnormalities, which are usually found with the corner fracture type of SMD. Severe congenital scoliosis and short stature were present in all members of this family, suggesting that the disorder may represent a different dominantly inherited SMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15666313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[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.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al. (2017)</a> studied patients from 7 families with SMD and corner fractures who had mutations in the FN1 gene, including the family originally reported by <a href="#8" class="mim-tip-reference" title="Sutton, V. R., Hyland, J. C., Phillips, W. A., Schlesinger, A. E., Brill, P. W. <strong>A dominantly inherited spondylometaphyseal dysplasia with 'corner fractures' and congenital scoliosis.</strong> Am. J. Med. Genet. 133A: 209-212, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15666313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15666313</a>] [<a href="https://doi.org/10.1002/ajmg.a.30567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15666313">Sutton et al. (2005)</a>. Noting that 7 of the 9 mutation-positive patients exhibited severe scoliosis and that developmental coxa vara was only observed in 3, <a href="#5" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[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.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al. (2017)</a> suggested that these patients might represent a subtype of the classic Sutcliffe-type SMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15666313+29100092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Sabir, A. H., Singhal, J., Man, J., Mensah, N. E., Ahn, J. W., Cheung, M. S., Irving, M. <strong>Automated reanalysis, a novel way to diagnose an ultra-rare condition: fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).</strong> Clin. Dysmorph. 30: 154-158, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33605604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33605604</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33605604">Sabir et al. (2021)</a> described a 12-year-old girl with short stature, dysmorphic facial features, spondylometaphyseal dysplasia, and corner fractures. She was born prematurely to a pregnancy complicated by prenatal relative macrocephaly, intrauterine growth retardation, and maternal preeclampsia. After birth, she was found to have bilateral genu varum, short stature, and relative macrocephaly. At 8 months of age, she did not show expected catch-up growth. At age 2 years she had a leg length discrepancy, an abnormal gait, and bowed legs. At age 5 years she was diagnosed with dyslexia but otherwise good cognitive abilities. Facial features included triangular face, small chin, prominent forehead, upslanting palpebral fissures, and almond-shaped eyes. A skeletal survey showed widespread metaphyseal dysplasia with fragmentation at the knees, widespread corner fractures, lumbar lordosis, mild scoliosis, wedge-shaped anterior thoracic vertebrae, and platyspondyly with ovoid vertebrae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33605604" 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 transmission pattern of SMDCF in the families reported by <a href="#5" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[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.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al. (2017)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29100092" 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>Using exome sequencing, <a href="#5" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[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.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al. (2017)</a> identified heterozygous variants in the FN1 gene in 3 of 13 individuals with SMD and corner fractures (SMDCF). Mutations included C87P (<a href="/entry/135600#0004">135600.0004</a>) in a mother and 2 sons (family 1), originally reported by <a href="#8" class="mim-tip-reference" title="Sutton, V. R., Hyland, J. C., Phillips, W. A., Schlesinger, A. E., Brill, P. W. <strong>A dominantly inherited spondylometaphyseal dysplasia with 'corner fractures' and congenital scoliosis.</strong> Am. J. Med. Genet. 133A: 209-212, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15666313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15666313</a>] [<a href="https://doi.org/10.1002/ajmg.a.30567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15666313">Sutton et al. (2005)</a>, and Y240D (<a href="/entry/135600#0005">135600.0005</a>) in a mother and daughter (family 4). Subsequently, they identified 4 more patients with de novo FN1 mutations, including C123R (<a href="/entry/135600#0006">135600.0006</a>) in 2 patients (families 2 and 7). All of the FN1 variants involved highly conserved residues, and none was found in the ExAC database. Noting that FN1 mutations had previously been associated with glomerulopathy (GFND2; <a href="/entry/601894">601894</a>), <a href="#5" class="mim-tip-reference" title="Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others. <strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong> Am. J. Hum. Genet. 101: 815-823, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[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.2017.09.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29100092">Lee et al. (2017)</a> stated that none of the SMDCF patients showed any evidence of renal disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15666313+29100092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 12-year-old girl with SMDCF, <a href="#6" class="mim-tip-reference" title="Sabir, A. H., Singhal, J., Man, J., Mensah, N. E., Ahn, J. W., Cheung, M. S., Irving, M. <strong>Automated reanalysis, a novel way to diagnose an ultra-rare condition: fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).</strong> Clin. Dysmorph. 30: 154-158, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33605604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33605604</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33605604">Sabir et al. (2021)</a> identified a de novo heterozygous missense mutation in the FN1 gene (C225W; <a href="/entry/135600#0007">135600.0007</a>). The mutation was identified by trio whole-exome sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33605604" 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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Currarino, G., Birch, J. G., Herring, J. A.
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<strong>Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): 'SMD-corner fracture type' (DCV/SMD-CF) demonstrated in most reported cases.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10663502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10663502</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10663502" 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/s002470050005" target="_blank">Full Text</a>]
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Felman, A. H., Frias, J. L., Rennert, O. M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4419008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4419008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4419008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1148/113.2.409" target="_blank">Full Text</a>]
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Kozlowski, K., Napiontek, M., Beim, E. R.
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<strong>Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity.</strong>
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Canad. Assoc. Radiol. J. 43: 364-368, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1393702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1393702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1393702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Langer, L. O., Jr., Brill, P. W., Ozonoff, M. B., Pauli, R. M., Wilson, W. G., Alford, B. A., Pavlov, H., Drake, D. G.
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<strong>Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.</strong>
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Radiology 175: 761-766, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2343127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2343127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2343127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others.
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<strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong>
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Am. J. Hum. Genet. 101: 815-823, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100092[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=29100092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sabir, A. H., Singhal, J., Man, J., Mensah, N. E., Ahn, J. W., Cheung, M. S., Irving, M.
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<strong>Automated reanalysis, a novel way to diagnose an ultra-rare condition: fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).</strong>
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Clin. Dysmorph. 30: 154-158, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33605604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33605604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33605604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Metaphyseal dysostosis.</strong>
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Ann. Radiol. 9: 215-223, 1966.
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Sutton, V. R., Hyland, J. C., Phillips, W. A., Schlesinger, A. E., Brill, P. W.
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<strong>A dominantly inherited spondylometaphyseal dysplasia with 'corner fractures' and congenital scoliosis.</strong>
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Am. J. Med. Genet. 133A: 209-212, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15666313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15666313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15666313" 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.30567" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 09/30/2021
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Marla J. F. O'Neill - updated : 12/28/2017<br>Victor A. McKusick - updated : 3/23/2005
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carol : 09/30/2021<br>alopez : 12/28/2017<br>carol : 06/15/2009<br>carol : 3/12/2007<br>tkritzer : 3/25/2005<br>terry : 3/23/2005<br>mgross : 3/18/2004<br>mimadm : 5/10/1995<br>supermim : 3/16/1992<br>carol : 6/4/1991<br>carol : 10/8/1990
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SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; SMDCF
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<strong>SNOMEDCT:</strong> 254078005;
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<strong>ORPHA:</strong> 93315;
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<strong>DO:</strong> 0112297;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q35
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Spondylometaphyseal dysplasia, corner fracture type
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<span class="mim-font">
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184255
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Autosomal dominant
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<span class="mim-font">
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3
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FN1
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<span class="mim-font">
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135600
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that the corner fracture type of spondylometaphyseal dysplasia (SMDCF) is caused by heterozygous mutation in the fibronectin gene (FN1; 135600) on chromosome 2q35.</p>
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<strong>Description</strong>
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<p>The corner fracture type of spondylometaphyseal dysplasia (SMDCF) is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These 'corner fractures,' which involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur, represent irregular ossification at the growth plates and secondary ossification centers. They become larger in older children and disappear after growth has stopped. In addition, severe scoliosis has been observed in FN1-associated SMDCF, whereas developmental coxa vara is less often seen, and odontoid abnormalities have not been reported (summary by Lee et al., 2017). </p>
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<strong>Clinical Features</strong>
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<p>In 11 patients, including a father and daughter and a mother and 2 children, Langer et al. (1990) described an apparently unique skeletal dysplasia associated with short stature and developmental coxa vara. Progressive hip deformity usually resulted in a significant disability requiring surgical correction. The diagnostic constellation comprised coxa vara, simulated 'corner fractures' of long tubular bones, and vertebral body abnormalities. They pictured x-rays of patients with large triangular fragments situated laterally in the distal tibial metaphyses on the ulnar aspect of the distal radius and in the proximal humerus. The vertebral body endplates were more convex than usual for the patient's age. Some hypoplasia of the anterior part of the bodies created an appearance of anterior wedging. By the time a gait disturbance was identified, at about 2 years of age, characteristic radiographic changes were present in the hips. Continued slippage of the femoral capital epiphysis resulted in an angle between the long axis of the femoral capital epiphysis and the femoral shaft of 90 degrees or less. This type of deformity is referred to as developmental coxa vara. </p><p>Also called the Sutcliffe type of spondylometaphyseal dysplasia (Sutcliffe, 1966), cases of SMD 'corner fractures' type were described by Felman et al. (1974), Langer et al. (1990), Kozlowski et al. (1992), and Currarino et al. (2000). The features of these cases were proportional short stature, mild vertebral abnormalities, developmental coxa vara in most cases, metaphyseal abnormalities that included flakelike, triangular, or curvilinear ossification centers at the edges of the metaphyses (corner fractures), and deficiency or absence of ossification of the odontoid process. Mild short stature in childhood was a feature. This type of SMD differs from the Kozlowski type (184252) by the presence of corner fractures, absence of marked platyspondyly, absence of kyphoscoliosis, and milder involvement of short tubular bones (Langer et al., 1990). </p><p>Sutton et al. (2005) reported a mother and 2 sons with a dominantly inherited SMD with corner fractures and severe, congenital scoliosis but neither coxa vara nor odontoid abnormalities, which are usually found with the corner fracture type of SMD. Severe congenital scoliosis and short stature were present in all members of this family, suggesting that the disorder may represent a different dominantly inherited SMD. </p><p>Lee et al. (2017) studied patients from 7 families with SMD and corner fractures who had mutations in the FN1 gene, including the family originally reported by Sutton et al. (2005). Noting that 7 of the 9 mutation-positive patients exhibited severe scoliosis and that developmental coxa vara was only observed in 3, Lee et al. (2017) suggested that these patients might represent a subtype of the classic Sutcliffe-type SMD. </p><p>Sabir et al. (2021) described a 12-year-old girl with short stature, dysmorphic facial features, spondylometaphyseal dysplasia, and corner fractures. She was born prematurely to a pregnancy complicated by prenatal relative macrocephaly, intrauterine growth retardation, and maternal preeclampsia. After birth, she was found to have bilateral genu varum, short stature, and relative macrocephaly. At 8 months of age, she did not show expected catch-up growth. At age 2 years she had a leg length discrepancy, an abnormal gait, and bowed legs. At age 5 years she was diagnosed with dyslexia but otherwise good cognitive abilities. Facial features included triangular face, small chin, prominent forehead, upslanting palpebral fissures, and almond-shaped eyes. A skeletal survey showed widespread metaphyseal dysplasia with fragmentation at the knees, widespread corner fractures, lumbar lordosis, mild scoliosis, wedge-shaped anterior thoracic vertebrae, and platyspondyly with ovoid vertebrae. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of SMDCF in the families reported by Lee et al. (2017) was consistent with autosomal dominant inheritance. </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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using exome sequencing, Lee et al. (2017) identified heterozygous variants in the FN1 gene in 3 of 13 individuals with SMD and corner fractures (SMDCF). Mutations included C87P (135600.0004) in a mother and 2 sons (family 1), originally reported by Sutton et al. (2005), and Y240D (135600.0005) in a mother and daughter (family 4). Subsequently, they identified 4 more patients with de novo FN1 mutations, including C123R (135600.0006) in 2 patients (families 2 and 7). All of the FN1 variants involved highly conserved residues, and none was found in the ExAC database. Noting that FN1 mutations had previously been associated with glomerulopathy (GFND2; 601894), Lee et al. (2017) stated that none of the SMDCF patients showed any evidence of renal disease. </p><p>In a 12-year-old girl with SMDCF, Sabir et al. (2021) identified a de novo heterozygous missense mutation in the FN1 gene (C225W; 135600.0007). The mutation was identified by trio whole-exome sequencing. Functional studies were not performed. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Currarino, G., Birch, J. G., Herring, J. A.
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<strong>Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): 'SMD-corner fracture type' (DCV/SMD-CF) demonstrated in most reported cases.</strong>
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Pediat. Radiol. 30: 14-24, 2000.
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[PubMed: 10663502]
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[Full Text: https://doi.org/10.1007/s002470050005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Felman, A. H., Frias, J. L., Rennert, O. M.
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<strong>Spondylometaphyseal dysplasia: a variant form.</strong>
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Radiology 113: 409-415, 1974.
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[PubMed: 4419008]
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[Full Text: https://doi.org/10.1148/113.2.409]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kozlowski, K., Napiontek, M., Beim, E. R.
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<strong>Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity.</strong>
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Canad. Assoc. Radiol. J. 43: 364-368, 1992.
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[PubMed: 1393702]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Langer, L. O., Jr., Brill, P. W., Ozonoff, M. B., Pauli, R. M., Wilson, W. G., Alford, B. A., Pavlov, H., Drake, D. G.
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<strong>Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.</strong>
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Radiology 175: 761-766, 1990.
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[PubMed: 2343127]
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[Full Text: https://doi.org/10.1148/radiology.175.3.2343127]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lee, C. S., Fu, H., Baratang, N., Rousseau, J., Kumra, H., Sutton, V. R., Niceta, M., Ciolfi, A., Yamamoto, G., Bertola, D., Marcelis, C. L., Lugtenberg, D., and 22 others.
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<strong>Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with 'corner fractures.'</strong>
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Am. J. Hum. Genet. 101: 815-823, 2017.
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[PubMed: 29100092]
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[Full Text: https://doi.org/10.1016/j.ajhg.2017.09.019]
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</li>
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<li>
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<p class="mim-text-font">
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Sabir, A. H., Singhal, J., Man, J., Mensah, N. E., Ahn, J. W., Cheung, M. S., Irving, M.
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<strong>Automated reanalysis, a novel way to diagnose an ultra-rare condition: fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).</strong>
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Clin. Dysmorph. 30: 154-158, 2021.
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[PubMed: 33605604]
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[Full Text: https://doi.org/10.1097/MCD.0000000000000369]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sutcliffe, J.
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<strong>Metaphyseal dysostosis.</strong>
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Ann. Radiol. 9: 215-223, 1966.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sutton, V. R., Hyland, J. C., Phillips, W. A., Schlesinger, A. E., Brill, P. W.
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<strong>A dominantly inherited spondylometaphyseal dysplasia with 'corner fractures' and congenital scoliosis.</strong>
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Am. J. Med. Genet. 133A: 209-212, 2005.
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[PubMed: 15666313]
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[Full Text: https://doi.org/10.1002/ajmg.a.30567]
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Hilary J. Vernon - updated : 09/30/2021<br>Marla J. F. O'Neill - updated : 12/28/2017<br>Victor A. McKusick - updated : 3/23/2005
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Victor A. McKusick : 10/8/1990
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carol : 12/20/2023<br>carol : 09/30/2021<br>alopez : 12/28/2017<br>carol : 06/15/2009<br>carol : 3/12/2007<br>tkritzer : 3/25/2005<br>terry : 3/23/2005<br>mgross : 3/18/2004<br>mimadm : 5/10/1995<br>supermim : 3/16/1992<br>carol : 6/4/1991<br>carol : 10/8/1990
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component of our efforts to ensure long-term funding to provide you the
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information that you need at your fingertips.
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<p>
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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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