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Entry
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- #187600 - THANATOPHORIC DYSPLASIA, TYPE I; TD1
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- OMIM
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<p>
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<span class="h4">#187600</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/187600"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=THANATOPHORIC DYSPLASIA, TYPE I" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1837&Typ=Pat" title="Thanatophoric dysplasia type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Thanatophoric dysplasia ty… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=547&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Thanatophoric dysplasia </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1366/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7051" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=187600[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1860" title="Thanatophoric dysplasia type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Thanatophoric dysplasia ty…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Thanatophoric dysplasia</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d2f636ea-073f-4762-a233-b0ea24fcdc23/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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:13481" 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/187600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001703/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:13481" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:187600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 389157002<br />
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<strong>ORPHA:</strong> 1860, 2655<br />
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<strong>DO:</strong> 13481<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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187600
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</span>
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</span>
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</div>
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|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I; TD1
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
THANATOPHORIC DYSPLASIA; TD<br />
|
|
THANATOPHORIC DWARFISM<br />
|
|
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE<br />
|
|
LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
|
</div>
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|
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|
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|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/34?start=-3&limit=10&highlight=34">
|
|
4p16.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Thanatophoric dysplasia, type I
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187600"> 187600 </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">
|
|
FGFR3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134934"> 134934 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/187600" 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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<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/187600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/187600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dwarfism, lethal micromelic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674171</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008909</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Severe growth deficiency in survivors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861227</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000274</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Respiratory insufficiency/failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145670</a>, <a href="https://bioportal.bioontology.org/search?q=C0035229&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035229</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002878</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Narrow thorax <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249671009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249671009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Ribs Sternum Clavicles & Scapulae </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Wide-cupped costochondral junctions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861213&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861213</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000910</a>]</span><br /> -
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Small abnormally formed scapulae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861226&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861226</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006584" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006584</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006584" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006584</a>]</span><br /> -
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Short ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249696007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249696007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </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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<div>
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<span class="h5 mim-font">
|
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<em> Skull </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Small foramen magnum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002677</a>]</span><br /> -
|
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Cloverleaf skull rarely <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861228&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861228</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Spine </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Severe platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850293&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850293</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004565</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Short and small iliac bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861218</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span><br /> -
|
|
Small sacroiliac notches <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866689</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003185</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Marked shortness and bowing of long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861229&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861229</a>]</span><br /> -
|
|
'French telephone receiver femurs' <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861230</a>]</span><br /> -
|
|
Flared and irregular metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861221</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Temporal lobe heterotopias <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861224</a>]</span><br /> -
|
|
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
|
|
Profound mental retardation and hypotonia in survivors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861225</a>]</span><br />
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|
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</span>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Prenatal diagnosis by ultrasound <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855343</a>]</span><br />
|
|
|
|
</span>
|
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Movement </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Decreased fetal activity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276369006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276369006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O36.8190" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O36.8190</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/O36.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O36.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001558</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001558</a>]</span><br />
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|
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</span>
|
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</div>
|
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Amniotic Fluid </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
|
|
|
- Polyhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Death in majority of infants soon after birth<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
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|
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- Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, <a href="/entry/134934#0005">134934.0005</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that thanatophoric dysplasia type I (TD1) is caused by heterozygous mutation in the gene encoding the fibroblast growth factor receptor-3 (FGFR3; <a href="/entry/134934">134934</a>) on chromosome 4p16.</p><p>Thanatophoric dysplasia type II (TD2; <a href="/entry/187601">187601</a>), achondroplasia (ACH; <a href="/entry/100800">100800</a>), and SADDAN (<a href="/entry/616482">616482</a>) are allelic disorders.</p>
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<p>Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. <a href="#36" class="mim-tip-reference" title="Norman, A. M., Rimmer, S., Landy, S., Donnai, D. <strong>Thanatophoric dysplasia of the straight-bone type (type 2).</strong> Clin. Dysmorph. 1: 115-120, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1345514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1345514</a>]" pmid="1345514">Norman et al. (1992)</a> classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (<a href="#28" class="mim-tip-reference" title="Langer, L. O., Jr., Yang, S. S., Hall, J. G., Sommer, A., Kottamasu, S. R., Golabi, M., Krassikoff, N. <strong>Thanatophoric dysplasia and cloverleaf skull.</strong> Am. J. Med. Genet.Suppl. 3: 167-179, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3130852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3130852</a>] [<a href="https://doi.org/10.1002/ajmg.1320280521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3130852">Langer et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3130852+1345514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#30" class="mim-tip-reference" title="Maroteaux, P., Lamy, M., Robert, J.-M. <strong>Le nanisme thanatophore.</strong> Presse Med. 75: 2519-2524, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6073727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6073727</a>]" pmid="6073727">Maroteaux et al. (1967)</a> referred to patients with micromelic dwarfism who died in the first hours of life as having 'thanatophoric dwarfism.' The ribs and bones of the extremities were very short and the vertebral bodies were greatly reduced in height with wide intervertebral spaces; caudad narrowing of the spinal canal was not present. Radiologically, the vertebral bodies were H-shaped in frontal projection, and the femurs were shaped like telephone receivers. <a href="#30" class="mim-tip-reference" title="Maroteaux, P., Lamy, M., Robert, J.-M. <strong>Le nanisme thanatophore.</strong> Presse Med. 75: 2519-2524, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6073727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6073727</a>]" pmid="6073727">Maroteaux et al. (1967)</a> found cases in the literature that matched this description, the earliest reported by <a href="#33" class="mim-tip-reference" title="Maygrier, C. <strong>Foetus achondroplasique: presentation de photographies, du moulage, d'une radiographie et du squelette.</strong> Bull. Soc. Obstet. Gynec. 1: 248-255, 1898."None>Maygrier (1898)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6073727" 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="#14" class="mim-tip-reference" title="Giedion, A. <strong>Thanatophoric dwarfism.</strong> Helv. Paediat. Acta 23: 175-183, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5303345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5303345</a>]" pmid="5303345">Giedion (1968)</a> described a Swiss patient with TD1 who had radioulnar synostosis and survived for 96 hours. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5303345" 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="#50" class="mim-tip-reference" title="Stensvold, K., Ek, J., Hovland, A. R. <strong>An infant with thanatophoric dwarfism surviving 169 days.</strong> Clin. Genet. 29: 157-159, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3955867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3955867</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01241.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3955867">Stensvold et al. (1986)</a> reported survival for 169 days. The child had increasing hydrocephalus and the femurs were shaped like telephone receivers. <a href="#54" class="mim-tip-reference" title="Tonoki, H. <strong>A boy with thanatophoric dysplasia surviving 212 days. (Letter)</strong> Clin. Genet. 32: 415-416, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3436092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3436092</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1987.tb03161.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3436092">Tonoki (1987)</a> described a patient who survived for 212 days. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3436092+3955867" 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="#29" class="mim-tip-reference" title="MacDonald, I. M., Hunter, A. G. W., MacLeod, P. M., MacMurray, S. B. <strong>Growth and development in thanatophoric dysplasia.</strong> Am. J. Med. Genet. 33: 508-512, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596513</a>] [<a href="https://doi.org/10.1002/ajmg.1320330420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2596513">MacDonald et al. (1989)</a> reported unusually long survival; an unrelated boy and girl were still alive at the ages of 4.75 and 3.7 years, respectively. Both seemed to have disease of the usual severity. Surprisingly, the girl survived unsupported until age 2 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2596513" 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="#25" class="mim-tip-reference" title="Knisely, A. S. <strong>Thanatophoric dysplasia in identical twins. (Letter)</strong> J. Med. Genet. 26: 735-736, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2585471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2585471</a>] [<a href="https://doi.org/10.1136/jmg.26.11.735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2585471">Knisely (1989)</a> pointed out that megalencephaly and highly characteristic temporal lobe malformations are invariably present in thanatophoric dysplasia and that other abnormalities in central nervous system topography are frequently apparent by microscopy (<a href="#58" class="mim-tip-reference" title="Wongmongkolrit, T., Bush, M., Roessmann, U. <strong>Neuropathological findings in thanatophoric dysplasia.</strong> Arch. Path. Lab. Med. 107: 132-135, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6687528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6687528</a>]" pmid="6687528">Wongmongkolrit et al., 1983</a>; <a href="#20" class="mim-tip-reference" title="Ho, K.-L., Chang, C.-H., Yang, S. S., Chason, J. L. <strong>Neuropathologic findings in thanatophoric dysplasia.</strong> Acta Neuropath. 63: 218-228, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6464678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6464678</a>] [<a href="https://doi.org/10.1007/BF00685248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6464678">Ho et al., 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6687528+2585471+6464678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Baker, K. M., Olson, D. S., Harding, C. O., Pauli, R. M. <strong>Long-term survival in typical thanatophoric dysplasia type 1.</strong> Am. J. Med. Genet. 70: 427-436, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9182787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9182787</a>]" pmid="9182787">Baker et al. (1997)</a> reported a patient with TD1 who survived beyond age 9 years. This patient also had acanthosis nigricans. The authors referred to another TD long-term survivor with acanthosis nigricans. This skin disorder also occurs in Crouzon syndrome (<a href="/entry/123500">123500</a>) when caused by a FGFR3 mutation (<a href="/entry/134934#0011">134934.0011</a>). Genetic analysis in the patient of <a href="#2" class="mim-tip-reference" title="Baker, K. M., Olson, D. S., Harding, C. O., Pauli, R. M. <strong>Long-term survival in typical thanatophoric dysplasia type 1.</strong> Am. J. Med. Genet. 70: 427-436, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9182787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9182787</a>]" pmid="9182787">Baker et al. (1997)</a> identified a common FGFR3 mutation (R248C; <a href="/entry/134934#0005">134934.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9182787" 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="#38" class="mim-tip-reference" title="Pannier, S., Martinovic, J., Heuertz, S., Delezoide, A.-L., Munnich, A., Schibler, L., Serre, V., Legeai-Mallet, L. <strong>Thanatophoric dysplasia caused by double missense FGFR3 mutations.</strong> Am. J. Med. Genet. 149A: 1296-1301, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449430</a>] [<a href="https://doi.org/10.1002/ajmg.a.32880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449430">Pannier et al. (2009)</a> reported a fetus with lethal TD1 ascertained at 24 weeks' gestation when the fetus was noted to have severe dwarfism. The pregnancy was terminated. Radiographic studies showed severe rhizomelic shortness of the long bones and mild bowing of the femora, radii, and ulnae. The spine showed severe platyspondyly with H-shaped vertebrae and narrowing of the interpediculate distance. The thorax was small with short ribs, and the iliac bones were short and wide. Macrocrania and frontal bossing were observed; there was no evidence of a cloverleaf skull. Postmortem examination showed cerebral cortical malformations with temporal lobe polymicrogyria and severe disorganization of growth plates in the long bones. Genetic analysis identified heterozygosity for 2 de novo missense mutations in the FGFR3 gene on the same allele (N540K and Q485R; <a href="/entry/134934#0034">134934.0034</a>). The authors noted that the N540K mutation in isolation (<a href="/entry/134934#0010">134934.0010</a>) usually results in the less severe phenotype of hypochondroplasia (HCH; <a href="/entry/146000">146000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449430" 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><strong><em>Reviews</em></strong></p><p>
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<a href="#49" class="mim-tip-reference" title="Sillence, D. O., Rimoin, D. L., Lachman, R. S. <strong>Neonatal dwarfism.</strong> Pediat. Clin. N. Am. 25: 453-483, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/693081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">693081</a>] [<a href="https://doi.org/10.1016/s0031-3955(16)33600-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="693081">Sillence et al. (1978)</a> provided a review of neonatal dwarfism, including thanatophoric dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=693081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#30" class="mim-tip-reference" title="Maroteaux, P., Lamy, M., Robert, J.-M. <strong>Le nanisme thanatophore.</strong> Presse Med. 75: 2519-2524, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6073727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6073727</a>]" pmid="6073727">Maroteaux et al. (1967)</a> concluded that a dominant mutation was the most likely basis for this disorder, but that recessive inheritance could not be excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6073727" 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="#40" class="mim-tip-reference" title="Pena, S. D. J., Goodman, H. O. <strong>The genetics of thanatophoric dwarfism.</strong> Pediatrics 51: 104-109, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4684427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4684427</a>]" pmid="4684427">Pena and Goodman (1973)</a> reviewed reported cases and concluded that polygenic inheritance was most likely. They suggested an empiric recurrence risk in sibs of 2%. <a href="#34" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1973."None>McKusick (1973)</a> suggested genetic heterogeneity, with some recessive and many dominant new mutation cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4684427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bouvet, J.-P., Maroteaux, P., Feingold, J. <strong>Etude genetique du nanisme thanatophore.</strong> Ann. Genet. 17: 181-188, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4548819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4548819</a>]" pmid="4548819">Bouvet et al. (1974)</a> found no increase in parental age and no increase in parental consanguinity among patients with thanatophoric dwarfism. They pictured concordantly affected twins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4548819" 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="#48" class="mim-tip-reference" title="Serville, F., Carles, D., Maroteaux, P. <strong>Thanatophoric dysplasia of identical twins. (Letter)</strong> Am. J. Med. Genet. 17: 703-706, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6538757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6538757</a>] [<a href="https://doi.org/10.1002/ajmg.1320170322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6538757">Serville et al. (1984)</a> reported identical twins who were both affected, bringing to 4 the number of such cases. This was in distinct contrast to the rarity of affected nontwin sibs; only <a href="#4" class="mim-tip-reference" title="Bouvet, J.-P., Maroteaux, P., Feingold, J. <strong>Etude genetique du nanisme thanatophore.</strong> Ann. Genet. 17: 181-188, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4548819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4548819</a>]" pmid="4548819">Bouvet et al. (1974)</a> and <a href="#39" class="mim-tip-reference" title="Partington, M. W., Gonzales-Crussi, F., Khakee, S. G., Wollin, D. G. <strong>Cloverleaf skull and thanatophoric dwarfism: report of four cases, two in the same sibship.</strong> Arch. Dis. Child. 46: 656-664, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5315768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5315768</a>] [<a href="https://doi.org/10.1136/adc.46.249.656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5315768">Partington et al. (1971)</a> had described such cases, and thanatophoric dysplasia was associated with cloverleaf skull in the latter cases, consistent with TD2. <a href="#11" class="mim-tip-reference" title="Corsello, G., Maresi, E., Rossi, C., Giuffre, L., Cittadini, E. <strong>Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.</strong> Am. J. Med. Genet. 42: 122-126, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1308351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1308351</a>] [<a href="https://doi.org/10.1002/ajmg.1320420125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1308351">Corsello et al. (1992)</a> observed thanatophoric dysplasia in monozygotic male twins, only 1 of whom had cloverleaf skull. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5315768+6538757+4548819+1308351" 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 population study in the West of Scotland for the period 1970 to 1983, <a href="#10" class="mim-tip-reference" title="Connor, J. M., Connor, R. A. C., Sweet, E. M., Gibson, A. A. M., Patrick, W. J. A., McNay, M. B., Redford, D. H. A. <strong>Lethal neonatal chondrodysplasias in the West of Scotland, 1970-1983, with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.</strong> Am. J. Med. Genet. 22: 243-253, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3901754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3901754</a>] [<a href="https://doi.org/10.1002/ajmg.1320220205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3901754">Connor et al. (1985)</a> found that TD had an incidence of 1 in 42,221 births, which was consistent with a new dominant mutation rate of 11.8 +/- 4.1 x 10(-6) mutations per gene per generation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3901754" 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 collaborative study in Spain, <a href="#32" class="mim-tip-reference" title="Martinez-Frias, M. L., Ramos-Arroyo, M. A., Salvador, J. <strong>Thanatophoric dysplasia: an autosomal dominant condition?</strong> Am. J. Med. Genet. 31: 815-820, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3239573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3239573</a>] [<a href="https://doi.org/10.1002/ajmg.1320310414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3239573">Martinez-Frias et al. (1988)</a> identified 13 cases among 517,970 births, an incidence of 2.7 per 100,000 births. All cases were sporadic, and there was no evidence of parental consanguinity. Parental age was increased; the average age of the fathers was 34.8, as compared to 35.3 in an equal number of sporadic achondroplasia cases, and 30.0 in 10,624 control births. The findings were interpreted as supporting autosomal dominant inheritance with an overall mutation rate of 1.34 per 100,000 gametes, a value close to that observed in achondroplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3239573" 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="#59" class="mim-tip-reference" title="Young, I. D., Patel, I., Lamont, A. C. <strong>Thanatophoric dysplasia in identical twins.</strong> J. Med. Genet. 26: 276-279, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2716037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2716037</a>] [<a href="https://doi.org/10.1136/jmg.26.4.276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2716037">Young et al. (1989)</a> described concordantly affected female monozygotic twins. Monozygosity was established by DNA minisatellite fingerprinting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2716037" 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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In utero diagnosis was demonstrated by <a href="#24" class="mim-tip-reference" title="Keats, T. E., Riddervold, H. O., Michaelis, L. L. <strong>Thanatophoric dwarfism.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 108: 473-480, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5415922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5415922</a>] [<a href="https://doi.org/10.2214/ajr.108.3.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5415922">Keats et al. (1970)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5415922" 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>Although prenatal diagnosis of TD had been accomplished by ultrasonography in the second trimester (<a href="#47" class="mim-tip-reference" title="Schild, R. L., Hunt, G. H., Moore, J., Davies, H., Horwell, D. H. <strong>Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis.</strong> Ultrasound Obstet. Gynec. 8: 62-67, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8843623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8843623</a>] [<a href="https://doi.org/10.1046/j.1469-0705.1996.08010062.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8843623">Schild et al., 1996</a>), it was not always possible to distinguish between TD and other osteochondrodysplasias in utero. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8843623" 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>Using restriction enzyme analysis, <a href="#46" class="mim-tip-reference" title="Sawai, H., Komori, S., Ida, A., Henmi, T., Bessho, T., Koyama, K. <strong>Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.</strong> Prenatal Diag. 19: 21-24, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10073901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10073901</a>] [<a href="https://doi.org/10.1002/(sici)1097-0223(199901)19:1<21::aid-pd457>3.0.co;2-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10073901">Sawai et al. (1999)</a> identified a mutation in the FGFR3 gene in a fetus at 27 weeks' gestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10073901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Hersh, J. H., Yen, F. F., Peiper, S. C., Barch, M. J., Yacoub, O. A., Voss, D. H., Roberts, J. L. <strong>De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.</strong> J. Med. Genet. 32: 293-295, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7643360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7643360</a>] [<a href="https://doi.org/10.1136/jmg.32.4.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7643360">Hersh et al. (1995)</a> suggested that the gene mutant in TD might be on chromosome 1 or chromosome 10 because of the observation of a de novo 1;10 balanced translocation in an infant with this disorder. Although the possibility exists of genetic heterogeneity with one or more forms of TD due to mutations in a gene other than FGFR3, it is also possible that the balanced translocation was merely a coincidence in this case. The TD was classified as type I and there was no cloverleaf skull. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7643360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#41" class="mim-tip-reference" title="Reardon, W., Winter, R. M., Rutland, P., Pulleyn, L. J., Jones, B. M., Malcolm, S. <strong>Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.</strong> Nature Genet. 8: 98-103, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987400</a>] [<a href="https://doi.org/10.1038/ng0994-98" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987400">Reardon et al. (1994)</a> noted that fibroblast growth factor receptor-3 (FGFR3; <a href="/entry/134934">134934</a>), which is mutant in achondroplasia, is structurally very similar to FGFR2. Their observation that FGFR2 mutations cause craniosynostosis suggested to them that the lethal skeletal disorder TD2 with cloverleaf skull (<a href="/entry/187601">187601</a>) may be a good candidate for further mutation searches in FGFR3. Furthermore, because of the phenotypic similarities between TD and homozygous achondroplasia, Arthur Beaudet independently suggested to <a href="#56" class="mim-tip-reference" title="Wasmuth, J. J. <strong>Personal Communication.</strong> Irvine, Calif. 2/21/1995."None>Wasmuth (1995)</a> that FGFR3 be studied in cases of TD. Indeed, <a href="#52" class="mim-tip-reference" title="Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y.-Z., Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Wasmuth, J. J. <strong>Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.</strong> Nature Genet. 9: 321-328, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7773297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7773297</a>] [<a href="https://doi.org/10.1038/ng0395-321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7773297">Tavormina et al. (1995)</a> found that 23 of 39 TD1 patients harbored amino acid substitutions in the extracellular domain of FGFR3. Of these, 22 patients were found to be heterozygous for the R248C substitution (<a href="/entry/134934#0005">134934.0005</a>). One patient had a S371C substitution (<a href="/entry/134934#0006">134934.0006</a>). Phenotypic heterogeneity was observed in TD1, in that 6 of 11 TD1 patients with cloverleaf skull and 16 of 28 patients without cloverleaf skull had the R248C mutation. <a href="#52" class="mim-tip-reference" title="Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y.-Z., Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Wasmuth, J. J. <strong>Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.</strong> Nature Genet. 9: 321-328, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7773297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7773297</a>] [<a href="https://doi.org/10.1038/ng0395-321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7773297">Tavormina et al. (1995)</a> found that all 16 patients with TD2 had a heterozygous K650E substitution (<a href="/entry/134934#0004">134934.0004</a>). All 16 patients with TD2 had severe cloverleaf skull deformity with straight femurs. In a subsequent paper, <a href="#51" class="mim-tip-reference" title="Tavormina, P. L., Rimoin, D. L., Cohn, D. H., Zhu, Y.-Z., Shiang, R., Wasmuth, J. J. <strong>Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.</strong> Hum. Molec. Genet. 4: 2175-2177, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589699</a>] [<a href="https://doi.org/10.1093/hmg/4.11.2175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589699">Tavormina et al. (1995)</a> identified a S249C mutation (<a href="/entry/134934#0013">134934.0013</a>) in 4 cases of TD1. The authors proposed that the severe lethal phenotype in TD1 was more directly related to the introduction of a new cysteine residue than to the specific site of the amino acid substitution. They speculated that an unpaired cysteine residue in the cytoplasmic region of the protein may result in formation of intermolecular disulfide hybrids between two FGFR3 monomers, resulting in a constitutively active mutant receptor homodimer complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7773297+8589699+7987400" 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="#43" class="mim-tip-reference" title="Rousseau, F., El Ghouzzi, V., Delezoide, A. L., Legeai-Mallet, L., Le Merrer, M., Munnich, A., Bonaventure, J. <strong>Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).</strong> Hum. Molec. Genet. 5: 509-512, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8845844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8845844</a>] [<a href="https://doi.org/10.1093/hmg/5.4.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8845844">Rousseau et al. (1996)</a> performed FGFR3 mutation analysis in 26 cases of TD1. Three missense mutations (Y373C, <a href="/entry/134934#0016">134934.0016</a>; R248C, <a href="/entry/134934#0005">134934.0005</a>; S249C, <a href="/entry/134934#0013">134934.0013</a>) accounted for 73% of the cases. Two stop codon mutations (X807R, <a href="/entry/134934#0008">134934.0008</a>; X807C, <a href="/entry/134934#0009">134934.0009</a>) and 1 rare G370C mutation were also found. <a href="#43" class="mim-tip-reference" title="Rousseau, F., El Ghouzzi, V., Delezoide, A. L., Legeai-Mallet, L., Le Merrer, M., Munnich, A., Bonaventure, J. <strong>Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).</strong> Hum. Molec. Genet. 5: 509-512, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8845844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8845844</a>] [<a href="https://doi.org/10.1093/hmg/5.4.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8845844">Rousseau et al. (1996)</a> noted that all reported missense mutations created cysteine residues and were located in the extracellular domain of the receptor. The findings provided support for the hypothesis that the newly created cysteine residues may allow disulfide bonds to form between the extracellular domains of mutant monomers, thus inducing constitutive activation of the homodimer receptor complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8845844" 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="Brodie, S. G., Kitoh, H., Lachman, R. S., Nolasco, L. M., Mekikian, P. B., Wilcox, W. R. <strong>Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.</strong> Am. J. Med. Genet. 84: 476-480, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10360402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10360402</a>]" pmid="10360402">Brodie et al. (1999)</a> examined 22 cases of thanatophoric dysplasia variants for the presence of missense mutations in FGFR3. All 17 cases of the San Diego variant (originally called the San Diego form of lethal short-limbed platyspondylic dysplasia) were heterozygous for the same FGFR3 mutations found in TD1; the R248C mutation was present in 7 of the 17 cases. Large inclusion bodies were found in all 14 cases of the San Diego type in which they were sought. Similar inclusion bodies were present in 2 of 72 thanatophoric dysplasia type I cases, but not in 39 controls. The material retained within the rough endoplasmic reticulum stained only with antibody to the FGFR3 protein. No mutations were identified in patients with the Torrance and Luton types of TD (<a href="/entry/151210">151210</a>). <a href="#5" class="mim-tip-reference" title="Brodie, S. G., Kitoh, H., Lachman, R. S., Nolasco, L. M., Mekikian, P. B., Wilcox, W. R. <strong>Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.</strong> Am. J. Med. Genet. 84: 476-480, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10360402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10360402</a>]" pmid="10360402">Brodie et al. (1999)</a> suggested that the radiographic and cellular differences between thanatophoric dysplasia and the San Diego variant may be a consequence of other genetic factors, perhaps in the processing of mutant FGFR3 molecules within the rough endoplasmic reticulum. <a href="#16" class="mim-tip-reference" title="Hall, C. M. <strong>International nosology and classification of constitutional disorders of bone (2001).</strong> Am. J. Med. Genet. 113: 65-77, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12400068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12400068</a>] [<a href="https://doi.org/10.1002/ajmg.10828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12400068">Hall (2002)</a> noted that the San Diego form of platyspondylic lethal skeletal dysplasia (PLSD) described by <a href="#22" class="mim-tip-reference" title="Horton, W. A., Rimoin, D. L., Hollister, D. W., Lachman, R. S. <strong>Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types.</strong> J. Pediat. 94: 736-742, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/448481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">448481</a>] [<a href="https://doi.org/10.1016/s0022-3476(79)80140-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="448481">Horton et al. (1979)</a> had been classified as the same as thanatophoric dysplasia type I. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=448481+10360402+12400068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#57" class="mim-tip-reference" title="Wilcox, W. R., Tavormina, P. L., Krakow, D., Kitoh, H., Lachman, R. S., Wasmuth, J. J., Thompson, L. M., Rimoin, D. L. <strong>Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.</strong> Am. J. Med. Genet. 78: 274-281, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9677066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9677066</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<274::aid-ajmg14>3.0.co;2-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9677066">Wilcox et al. (1998)</a> examined the clinical, radiographic, and histologic findings in 91 cases with FGFR3 mutations from the International Skeletal Dysplasia Registry. The most common mutation was R248C (<a href="/entry/134934#0005">134934.0005</a>), occurring in 45 (50%) cases, and the second most common mutation was Y373C (<a href="/entry/134934#0016">134934.0016</a>), occurring in 18 cases (20%). All of these patients had TD1 characterized by curved femora and infrequent cloverleaf skull. All 17 (19%) patients with the K650E mutation (<a href="/entry/134934#0004">134934.0004</a>) had TD2, characterized by straight femora with craniosynostosis and frequent cloverleaf skull. TD1 patients with the Y373C mutation tended to have more severe radiographic manifestations than TD1 patients with the R248C mutation, but there was phenotypic overlap between them. Histopathologically, all cases shared similar abnormalities, but those with the K650E mutation had better preservation of the growth plate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9677066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#21" class="mim-tip-reference" title="Horton, W. A., Hood, O. J., Machado, M. A., Ahmed, S., Griffey, E. S. <strong>Abnormal ossification in thanatophoric dysplasia.</strong> Bone 9: 53-61, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3132190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3132190</a>] [<a href="https://doi.org/10.1016/8756-3282(88)90027-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3132190">Horton et al. (1988)</a> delineated the process of abnormal ossification in 15 TD fetuses and infants from whom growth plate cartilage was obtained. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3132190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Delezoide, A.-L., Lasselin-Benoist, C., Legeai-Mallet, L., Brice, P., Senee, V., Yayon, A., Munnich, A., Vekemans, M., Bonaventure, J. <strong>Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.</strong> Hum. Molec. Genet. 6: 1899-1906, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302269</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302269">Delezoide et al. (1997)</a> studied 18 thanatophoric dysplasia fetuses for FGFR3 expression in cartilage sections by in situ hybridization and immunohistochemistry. Specific antibodies revealed high amounts of FGFR3 in cartilage of TD fetuses with no increased level of the corresponding mRNA. The specific signal was mainly detected in the nucleus of proliferative and hypertrophic chondrocytes. Based on this observation and the abnormal expression of collagen type X (<a href="/entry/120110">120110</a>) in hypertrophic thanatophoric dysplasia chondrocytes, <a href="#12" class="mim-tip-reference" title="Delezoide, A.-L., Lasselin-Benoist, C., Legeai-Mallet, L., Brice, P., Senee, V., Yayon, A., Munnich, A., Vekemans, M., Bonaventure, J. <strong>Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.</strong> Hum. Molec. Genet. 6: 1899-1906, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302269</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302269">Delezoide et al. (1997)</a> suggested that constitutive activation of the receptor through formation of a stable dimer increases its stability and promotes its translocation into the nucleus, where it might interfere with terminal chondrocyte differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9302269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Camera, G., Mastroiacovo, P. <strong>Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Skeletal Dysplasias.</strong> New York: Alan R. Liss (pub.) 1982. Pp. 441-449."None>Camera and Mastroiacovo (1982)</a> identified 13 cases of thanatophoric dysplasia among 217,061 Italian births. All were sporadic. In the same series, there were 8 cases of achondroplasia (<a href="/entry/100800">100800</a>) and 1 case each of camptomelic dysplasia (<a href="/entry/114290">114290</a>), Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>), Larsen syndrome (<a href="/entry/150250">150250</a>), and Langer mesomelic dysplasia (<a href="/entry/249700">249700</a>). Thanatophoric dysplasia was the most frequent skeletal dysplasia.</p><p><a href="#10" class="mim-tip-reference" title="Connor, J. M., Connor, R. A. C., Sweet, E. M., Gibson, A. A. M., Patrick, W. J. A., McNay, M. B., Redford, D. H. A. <strong>Lethal neonatal chondrodysplasias in the West of Scotland, 1970-1983, with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.</strong> Am. J. Med. Genet. 22: 243-253, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3901754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3901754</a>] [<a href="https://doi.org/10.1002/ajmg.1320220205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3901754">Connor et al. (1985)</a> identified 43 cases of lethal neonatal short-limb chondrodysplasias in the West of Scotland for the period 1970 to 1983, representing a minimum incidence of 1 in 8,900. TD had an incidence of 1 in 42,221 births. The differential diagnosis included a number of well-delineated skeletal dysplasias: asphyxiating thoracic dysplasia and short-rib polydactyly (see <a href="/entry/208500">208500</a>), achondrogenesis type II (<a href="/entry/200700">200700</a>), metatropic dysplasia (<a href="/entry/156530">156530</a>), OI congenita (<a href="/entry/166210">166210</a>), campomelic dysplasia (<a href="/entry/114290">114290</a>), rhizomelic chondrodysplasia punctata (<a href="/entry/215100">215100</a>), hypophosphatasia (<a href="/entry/241500">241500</a>), SED congenita (<a href="/entry/183900">183900</a>), one case of Warfarin embryopathy, and one apparently 'new' condition with presumed autosomal recessive inheritance (see <a href="/entry/273680">273680</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3901754" 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="#37" class="mim-tip-reference" title="Orioli, I. M., Castilla, E. E., Barbosa-Neto, J. G. <strong>The birth prevalence rates for the skeletal dysplasias.</strong> J. Med. Genet. 23: 328-332, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3746832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3746832</a>] [<a href="https://doi.org/10.1136/jmg.23.4.328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3746832">Orioli et al. (1986)</a> estimated the frequency of TD to be approximately 1 in 20,000 births, making it the most common neonatal lethal skeletal dysplasia. In a collaborative study in Spain, <a href="#32" class="mim-tip-reference" title="Martinez-Frias, M. L., Ramos-Arroyo, M. A., Salvador, J. <strong>Thanatophoric dysplasia: an autosomal dominant condition?</strong> Am. J. Med. Genet. 31: 815-820, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3239573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3239573</a>] [<a href="https://doi.org/10.1002/ajmg.1320310414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3239573">Martinez-Frias et al. (1988)</a> identified 13 cases among 517,970 births, an incidence of 2.7 per 100,000 births. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3239573+3746832" 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>Between 1970 and 1983 in Denmark, <a href="#1" class="mim-tip-reference" title="Andersen, P. E., Jr. <strong>Prevalence of lethal osteochondrodysplasias in Denmark.</strong> Am. J. Med. Genet. 32: 484-489, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2789000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2789000</a>] [<a href="https://doi.org/10.1002/ajmg.1320320411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2789000">Andersen (1989)</a> found 2 cases of thanatophoric dysplasia among 77,977 births, including stillbirths. In addition, there was 1 case of thanatophoric dysplasia with cloverleaf skull. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2789000" 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>Using data from 7 population-based birth defects monitoring programs in the United States, <a href="#55" class="mim-tip-reference" title="Waller, D. K., Correa, A., Vo, T. M., Wang, Y., Hobbs, C., Langlois, P. H., Pearson, K., Romitti, P. A., Shaw, G. M., Hecht, J. T. <strong>The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.</strong> Am. J. Med. Genet. 146A: 2385-2389, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18698630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18698630</a>] [<a href="https://doi.org/10.1002/ajmg.a.32485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18698630">Waller et al. (2008)</a> estimated the prevalence of achondroplasia and thanatophoric dysplasia and presented data on the association between older paternal age and these conditions. The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 live births (1/33,330-1/47,620 live births). The prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 live births (1/27,780-1/16,670 live births). These data suggest that thanatophoric dysplasia is one-third to one-half as frequent as achondroplasia. The differences on the prevalence of these conditions across monitoring programs were consistent with random fluctuation. In Texas, fathers that were 25-29, 30-34, 35-39, and over 40 years of age had significantly increased rates of de novo achondroplasia and thanatophoric dysplasia among their offspring compared with younger fathers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18698630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#44" class="mim-tip-reference" title="Sabry, A. <strong>Thanatophoric dwarfism in triplets. (Letter)</strong> Lancet 304: 533 only, 1974. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4137011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4137011</a>] [<a href="https://doi.org/10.1016/s0140-6736(74)92066-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4137011">Sabry (1974)</a> reported affected triplets whose parents were first cousins. In reviewing the radiographs, however, <a href="#42" class="mim-tip-reference" title="Rimoin, D. L. <strong>The chondrodystrophies.</strong> Adv. Hum. Genet. 5: 1-118, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/805512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">805512</a>] [<a href="https://doi.org/10.1007/978-1-4615-9068-2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="805512">Rimoin (1975)</a> concluded that these sibs had achondrogenesis of the Parenti-Fraccaro type (<a href="/entry/200600">200600</a>). The affected sibs of normal parents, reported by <a href="#18" class="mim-tip-reference" title="Harris, R., Patton, J. T. <strong>Achondroplasia and thanatophoric dwarfism in the newborn.</strong> Clin. Genet. 2: 61-72, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5165631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5165631</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1971.tb00257.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5165631">Harris and Patton (1971)</a>, were subsequently concluded to have achondrogenesis (<a href="#17" class="mim-tip-reference" title="Harris, R., Patton, J. T., Barson, A. J. <strong>Pseudoachondrogenesis with fractures.</strong> Clin. Genet. 3: 435-441, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4568361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4568361</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1972.tb01477.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4568361">Harris et al., 1972</a>). <a href="#9" class="mim-tip-reference" title="Chemke, J., Graff, G., Lancet, M. <strong>Familial thanatophoric dwarfism. (Letter)</strong> Lancet 297: 1358 only, 1971. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4103426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4103426</a>] [<a href="https://doi.org/10.1016/s0140-6736(71)91922-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4103426">Chemke et al. (1971)</a> and <a href="#15" class="mim-tip-reference" title="Graff, G., Chemke, J., Lancet, M. <strong>Familial recurring thanatophoric dwarfism.</strong> Obstet. Gynec. 39: 515-520, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4553206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4553206</a>]" pmid="4553206">Graff et al. (1972)</a> described thanatophoric dwarfism in 2 male offspring of first-cousin Moroccan Jewish parents. In the second-born affected sib the diagnosis was made antenatally by x-ray. However, after review of the radiographs of one, <a href="#42" class="mim-tip-reference" title="Rimoin, D. L. <strong>The chondrodystrophies.</strong> Adv. Hum. Genet. 5: 1-118, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/805512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">805512</a>] [<a href="https://doi.org/10.1007/978-1-4615-9068-2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="805512">Rimoin (1975)</a> concluded that this was not thanatophoric dwarfism. (<a href="#26" class="mim-tip-reference" title="Knowles, S., Winter, R., Rimoin, D. <strong>A new category of lethal short-limbed dwarfism.</strong> Am. J. Med. Genet. 25: 41-46, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799722</a>] [<a href="https://doi.org/10.1002/ajmg.1320250106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3799722">Knowles et al. (1986)</a> and <a href="#3" class="mim-tip-reference" title="Borochowitz, Z., Jones, K. L., Silbey, R., Adomian, G., Lachman, R., Rimoin, D. L. <strong>A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.</strong> Am. J. Med. Genet. 25: 47-59, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799723</a>] [<a href="https://doi.org/10.1002/ajmg.1320250107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3799723">Borochowitz et al. (1986)</a> suggested that the disorder reported by <a href="#9" class="mim-tip-reference" title="Chemke, J., Graff, G., Lancet, M. <strong>Familial thanatophoric dwarfism. (Letter)</strong> Lancet 297: 1358 only, 1971. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4103426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4103426</a>] [<a href="https://doi.org/10.1016/s0140-6736(71)91922-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4103426">Chemke et al. (1971)</a> and <a href="#15" class="mim-tip-reference" title="Graff, G., Chemke, J., Lancet, M. <strong>Familial recurring thanatophoric dwarfism.</strong> Obstet. Gynec. 39: 515-520, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4553206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4553206</a>]" pmid="4553206">Graff et al. (1972)</a> was the same as the 'new' autosomal recessive dysplasia they described under the designation of Schneckenbecken dysplasia; see <a href="/entry/269250">269250</a>.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4137011+4553206+5165631+3799722+3799723+4568361+4103426+805512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Camera1984" class="mim-tip-reference" title="Camera, G., Dodero, D., De Pascale, S. <strong>Prenatal diagnosis of thanatophoric dysplasia at 24 weeks.</strong> Am. J. Med. Genet. 18: 39-43, 1984.">Camera et al. (1984)</a>; <a href="#Campbell1971" class="mim-tip-reference" title="Campbell, R. E. <strong>Thanatophoric dwarfism in utero: a case report.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 112: 198-200, 1971.">Campbell (1971)</a>; <a href="#Elejalde1985" class="mim-tip-reference" title="Elejalde, B. R., de Elejalde, M. <strong>Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis.</strong> Am. J. Med. Genet. 22: 669-683, 1985.">Elejalde and de Elejalde
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(1985)</a>; <a href="#Kaufman1970" class="mim-tip-reference" title="Kaufman, R. L., Rimoin, D. L., McAlister, W. H., Kissane, J. M. <strong>Thanatophoric dwarfism.</strong> Am. J. Dis. Child. 120: 53-57, 1970.">Kaufman et al. (1970)</a>; <a href="#Kozlowski1970" class="mim-tip-reference" title="Kozlowski, K., Prokop, E., Zybaczynski, J. <strong>Thanatophoric dwarfism.</strong> Brit. J. Radiol. 43: 565-568, 1970.">Kozlowski et al. (1970)</a>; <a href="#Maroteaux1968" class="mim-tip-reference" title="Maroteaux, P., Lamy, M. <strong>Le diagnostic des nanismes chondro-dystrophiques chez les nouveau-nes.</strong> Arch. Franc. Pediat. 25: 241-262, 1968.">Maroteaux and
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Lamy (1968)</a>; <a href="#Nissenbaum1977" class="mim-tip-reference" title="Nissenbaum, M., Chung, S. M. K., Rosenberg, H. K., Buck, B. E. <strong>Thanatophoric dwarfism: two case reports and survey of the literature.</strong> Clin. Pediat. 16: 690-697, 1977.">Nissenbaum et al. (1977)</a>; <a href="#Sato1981" class="mim-tip-reference" title="Sato, D., Hosokawa, Y., Nakamura, Y., Mukae, T., Nakashima, T., Komatsu, Y., Kabashima, S. <strong>Thanatophoric dysplasia of identical twins.</strong> Acta Path. Jpn. 31: 895-902, 1981.">Sato et al. (1981)</a>; <a href="#Taybi1995" class="mim-tip-reference" title="Taybi, H., Lachman, R. S. <strong>Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. (4th ed.)</strong> St. Louis: C. V. Mosby (pub.) 1995. Pp. 939-945.">Taybi and
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Lachman (1995)</a>
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[<a href="https://doi.org/10.1002/ajmg.1320320411" target="_blank">Full Text</a>]
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Borochowitz, Z., Jones, K. L., Silbey, R., Adomian, G., Lachman, R., Rimoin, D. L.
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<strong>A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.</strong>
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Am. J. Med. Genet. 25: 47-59, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3799723" 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.1320250107" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4548819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4548819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4548819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brodie, S. G., Kitoh, H., Lachman, R. S., Nolasco, L. M., Mekikian, P. B., Wilcox, W. R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10360402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10360402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10360402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Camera, G., Dodero, D., De Pascale, S.
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<strong>Prenatal diagnosis of thanatophoric dysplasia at 24 weeks.</strong>
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Am. J. Med. Genet. 18: 39-43, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6741994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6741994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6741994" 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.1320180107" target="_blank">Full Text</a>]
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Campbell, R. E.
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<strong>Thanatophoric dwarfism in utero: a case report.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 112: 198-200, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5582027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5582027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5582027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.2214/ajr.112.1.198" target="_blank">Full Text</a>]
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Chemke, J., Graff, G., Lancet, M.
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<strong>Familial thanatophoric dwarfism. (Letter)</strong>
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Lancet 297: 1358 only, 1971. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4103426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4103426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4103426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(71)91922-2" target="_blank">Full Text</a>]
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<strong>Lethal neonatal chondrodysplasias in the West of Scotland, 1970-1983, with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3901754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3901754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3901754" 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.1320220205" target="_blank">Full Text</a>]
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Corsello, G., Maresi, E., Rossi, C., Giuffre, L., Cittadini, E.
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<strong>Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1308351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1308351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1308351" 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.1320420125" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/6.11.1899" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320220404" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10828" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1972.tb01477.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1971.tb00257.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.32.4.293" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00685248" target="_blank">Full Text</a>]
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<strong>Abnormal ossification in thanatophoric dysplasia.</strong>
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[<a href="https://doi.org/10.1016/8756-3282(88)90027-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(79)80140-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1970.02100060087013" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2214/ajr.108.3.473" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.26.11.735" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320250106" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1259/0007-1285-43-512-565" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320280521" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320330420" target="_blank">Full Text</a>]
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Sillence, D. O., Rimoin, D. L., Lachman, R. S.
|
|
<strong>Neonatal dwarfism.</strong>
|
|
Pediat. Clin. N. Am. 25: 453-483, 1978.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/693081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">693081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=693081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0031-3955(16)33600-8" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="50" class="mim-anchor"></a>
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<a id="Stensvold1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stensvold, K., Ek, J., Hovland, A. R.
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<strong>An infant with thanatophoric dwarfism surviving 169 days.</strong>
|
|
Clin. Genet. 29: 157-159, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3955867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3955867</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3955867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01241.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="51" class="mim-anchor"></a>
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<a id="Tavormina1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tavormina, P. L., Rimoin, D. L., Cohn, D. H., Zhu, Y.-Z., Shiang, R., Wasmuth, J. J.
|
|
<strong>Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.</strong>
|
|
Hum. Molec. Genet. 4: 2175-2177, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589699" 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/10.1093/hmg/4.11.2175" target="_blank">Full Text</a>]
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<li>
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<a id="52" class="mim-anchor"></a>
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<a id="Tavormina1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y.-Z., Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Wasmuth, J. J.
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<strong>Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.</strong>
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Nature Genet. 9: 321-328, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7773297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7773297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7773297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0395-321" target="_blank">Full Text</a>]
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<a id="53" class="mim-anchor"></a>
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<a id="Taybi1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Taybi, H., Lachman, R. S.
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<strong>Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. (4th ed.)</strong>
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St. Louis: C. V. Mosby (pub.) 1995. Pp. 939-945.
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<a id="54" class="mim-anchor"></a>
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<a id="Tonoki1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tonoki, H.
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<strong>A boy with thanatophoric dysplasia surviving 212 days. (Letter)</strong>
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Clin. Genet. 32: 415-416, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3436092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3436092</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3436092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1987.tb03161.x" target="_blank">Full Text</a>]
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</p>
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<a id="55" class="mim-anchor"></a>
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<a id="Waller2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waller, D. K., Correa, A., Vo, T. M., Wang, Y., Hobbs, C., Langlois, P. H., Pearson, K., Romitti, P. A., Shaw, G. M., Hecht, J. T.
|
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<strong>The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.</strong>
|
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Am. J. Med. Genet. 146A: 2385-2389, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18698630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18698630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18698630" 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.32485" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="56" class="mim-anchor"></a>
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<a id="Wasmuth1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wasmuth, J. J.
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<strong>Personal Communication.</strong>
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Irvine, Calif. 2/21/1995.
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</p>
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</div>
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<li>
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<a id="57" class="mim-anchor"></a>
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<a id="Wilcox1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilcox, W. R., Tavormina, P. L., Krakow, D., Kitoh, H., Lachman, R. S., Wasmuth, J. J., Thompson, L. M., Rimoin, D. L.
|
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<strong>Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.</strong>
|
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Am. J. Med. Genet. 78: 274-281, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9677066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9677066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9677066" 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/(sici)1096-8628(19980707)78:3<274::aid-ajmg14>3.0.co;2-c" target="_blank">Full Text</a>]
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<li>
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<a id="58" class="mim-anchor"></a>
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<a id="Wongmongkolrit1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wongmongkolrit, T., Bush, M., Roessmann, U.
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<strong>Neuropathological findings in thanatophoric dysplasia.</strong>
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Arch. Path. Lab. Med. 107: 132-135, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6687528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6687528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6687528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="59" class="mim-anchor"></a>
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<a id="Young1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, I. D., Patel, I., Lamont, A. C.
|
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<strong>Thanatophoric dysplasia in identical twins.</strong>
|
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J. Med. Genet. 26: 276-279, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2716037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2716037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2716037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.26.4.276" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/8/2010
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Nara Sobreira - updated : 11/24/2009<br>Cassandra L. Kniffin - reorganized : 8/7/2008<br>Cassandra L. Kniffin - updated : 7/29/2008<br>Ada Hamosh - updated : 3/14/2000<br>Victor A. McKusick - updated : 6/29/1999<br>Victor A. McKusick - updated : 8/17/1998<br>Victor A. McKusick - updated : 8/13/1997<br>Victor A. McKusick - updated : 2/11/1997<br>Moyra Smith - updated : 5/6/1996<br>Moyra Smith - edited : 5/2/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/01/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/22/2022<br>carol : 09/02/2016<br>carol : 09/01/2016<br>carol : 07/09/2016<br>carol : 7/24/2015<br>carol : 3/9/2015<br>mcolton : 3/4/2015<br>carol : 2/11/2014<br>carol : 12/2/2010<br>wwang : 11/12/2010<br>ckniffin : 11/8/2010<br>carol : 11/24/2009<br>terry : 11/24/2009<br>carol : 5/29/2009<br>terry : 2/9/2009<br>terry : 2/9/2009<br>carol : 8/7/2008<br>ckniffin : 7/29/2008<br>carol : 3/14/2007<br>carol : 3/9/2007<br>carol : 3/9/2007<br>alopez : 3/15/2000<br>terry : 3/14/2000<br>terry : 3/14/2000<br>alopez : 11/3/1999<br>carol : 6/29/1999<br>carol : 8/18/1998<br>terry : 8/17/1998<br>dkim : 7/24/1998<br>carol : 5/27/1998<br>terry : 8/13/1997<br>alopez : 7/29/1997<br>terry : 7/7/1997<br>terry : 7/7/1997<br>alopez : 6/3/1997<br>mark : 2/11/1997<br>terry : 2/11/1997<br>terry : 2/4/1997<br>carol : 9/26/1996<br>mark : 7/22/1996<br>carol : 5/14/1996<br>mark : 5/6/1996<br>mark : 5/6/1996<br>mark : 5/6/1996<br>mark : 5/3/1996<br>mark : 5/2/1996<br>mark : 5/2/1996<br>mark : 5/21/1995<br>mimadm : 5/10/1995<br>terry : 3/27/1995<br>davew : 7/18/1994<br>warfield : 4/21/1994<br>carol : 11/18/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 187600
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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THANATOPHORIC DYSPLASIA, TYPE I; TD1
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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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<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">
|
|
THANATOPHORIC DYSPLASIA; TD<br />
|
|
THANATOPHORIC DWARFISM<br />
|
|
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE<br />
|
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LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO 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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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 389157002;
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<strong>ORPHA:</strong> 1860, 2655;
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<strong>DO:</strong> 13481;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</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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4p16.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Thanatophoric dysplasia, type I
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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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187600
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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FGFR3
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</span>
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</td>
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<td>
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<span class="mim-font">
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134934
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that thanatophoric dysplasia type I (TD1) is caused by heterozygous mutation in the gene encoding the fibroblast growth factor receptor-3 (FGFR3; 134934) on chromosome 4p16.</p><p>Thanatophoric dysplasia type II (TD2; 187601), achondroplasia (ACH; 100800), and SADDAN (616482) are allelic disorders.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Maroteaux et al. (1967) referred to patients with micromelic dwarfism who died in the first hours of life as having 'thanatophoric dwarfism.' The ribs and bones of the extremities were very short and the vertebral bodies were greatly reduced in height with wide intervertebral spaces; caudad narrowing of the spinal canal was not present. Radiologically, the vertebral bodies were H-shaped in frontal projection, and the femurs were shaped like telephone receivers. Maroteaux et al. (1967) found cases in the literature that matched this description, the earliest reported by Maygrier (1898). </p><p>Giedion (1968) described a Swiss patient with TD1 who had radioulnar synostosis and survived for 96 hours. </p><p>Stensvold et al. (1986) reported survival for 169 days. The child had increasing hydrocephalus and the femurs were shaped like telephone receivers. Tonoki (1987) described a patient who survived for 212 days. </p><p>MacDonald et al. (1989) reported unusually long survival; an unrelated boy and girl were still alive at the ages of 4.75 and 3.7 years, respectively. Both seemed to have disease of the usual severity. Surprisingly, the girl survived unsupported until age 2 months. </p><p>Knisely (1989) pointed out that megalencephaly and highly characteristic temporal lobe malformations are invariably present in thanatophoric dysplasia and that other abnormalities in central nervous system topography are frequently apparent by microscopy (Wongmongkolrit et al., 1983; Ho et al., 1984). </p><p>Baker et al. (1997) reported a patient with TD1 who survived beyond age 9 years. This patient also had acanthosis nigricans. The authors referred to another TD long-term survivor with acanthosis nigricans. This skin disorder also occurs in Crouzon syndrome (123500) when caused by a FGFR3 mutation (134934.0011). Genetic analysis in the patient of Baker et al. (1997) identified a common FGFR3 mutation (R248C; 134934.0005). </p><p>Pannier et al. (2009) reported a fetus with lethal TD1 ascertained at 24 weeks' gestation when the fetus was noted to have severe dwarfism. The pregnancy was terminated. Radiographic studies showed severe rhizomelic shortness of the long bones and mild bowing of the femora, radii, and ulnae. The spine showed severe platyspondyly with H-shaped vertebrae and narrowing of the interpediculate distance. The thorax was small with short ribs, and the iliac bones were short and wide. Macrocrania and frontal bossing were observed; there was no evidence of a cloverleaf skull. Postmortem examination showed cerebral cortical malformations with temporal lobe polymicrogyria and severe disorganization of growth plates in the long bones. Genetic analysis identified heterozygosity for 2 de novo missense mutations in the FGFR3 gene on the same allele (N540K and Q485R; 134934.0034). The authors noted that the N540K mutation in isolation (134934.0010) usually results in the less severe phenotype of hypochondroplasia (HCH; 146000). </p><p><strong><em>Reviews</em></strong></p><p>
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Sillence et al. (1978) provided a review of neonatal dwarfism, including thanatophoric dysplasia. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Maroteaux et al. (1967) concluded that a dominant mutation was the most likely basis for this disorder, but that recessive inheritance could not be excluded. </p><p>Pena and Goodman (1973) reviewed reported cases and concluded that polygenic inheritance was most likely. They suggested an empiric recurrence risk in sibs of 2%. McKusick (1973) suggested genetic heterogeneity, with some recessive and many dominant new mutation cases. </p><p>Bouvet et al. (1974) found no increase in parental age and no increase in parental consanguinity among patients with thanatophoric dwarfism. They pictured concordantly affected twins. </p><p>Serville et al. (1984) reported identical twins who were both affected, bringing to 4 the number of such cases. This was in distinct contrast to the rarity of affected nontwin sibs; only Bouvet et al. (1974) and Partington et al. (1971) had described such cases, and thanatophoric dysplasia was associated with cloverleaf skull in the latter cases, consistent with TD2. Corsello et al. (1992) observed thanatophoric dysplasia in monozygotic male twins, only 1 of whom had cloverleaf skull. </p><p>In a population study in the West of Scotland for the period 1970 to 1983, Connor et al. (1985) found that TD had an incidence of 1 in 42,221 births, which was consistent with a new dominant mutation rate of 11.8 +/- 4.1 x 10(-6) mutations per gene per generation. </p><p>In a collaborative study in Spain, Martinez-Frias et al. (1988) identified 13 cases among 517,970 births, an incidence of 2.7 per 100,000 births. All cases were sporadic, and there was no evidence of parental consanguinity. Parental age was increased; the average age of the fathers was 34.8, as compared to 35.3 in an equal number of sporadic achondroplasia cases, and 30.0 in 10,624 control births. The findings were interpreted as supporting autosomal dominant inheritance with an overall mutation rate of 1.34 per 100,000 gametes, a value close to that observed in achondroplasia. </p><p>Young et al. (1989) described concordantly affected female monozygotic twins. Monozygosity was established by DNA minisatellite fingerprinting. </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>Diagnosis</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><strong><em>Prenatal Diagnosis</em></strong></p><p>
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In utero diagnosis was demonstrated by Keats et al. (1970). </p><p>Although prenatal diagnosis of TD had been accomplished by ultrasonography in the second trimester (Schild et al., 1996), it was not always possible to distinguish between TD and other osteochondrodysplasias in utero. </p><p>Using restriction enzyme analysis, Sawai et al. (1999) identified a mutation in the FGFR3 gene in a fetus at 27 weeks' gestation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</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>Hersh et al. (1995) suggested that the gene mutant in TD might be on chromosome 1 or chromosome 10 because of the observation of a de novo 1;10 balanced translocation in an infant with this disorder. Although the possibility exists of genetic heterogeneity with one or more forms of TD due to mutations in a gene other than FGFR3, it is also possible that the balanced translocation was merely a coincidence in this case. The TD was classified as type I and there was no cloverleaf skull. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Reardon et al. (1994) noted that fibroblast growth factor receptor-3 (FGFR3; 134934), which is mutant in achondroplasia, is structurally very similar to FGFR2. Their observation that FGFR2 mutations cause craniosynostosis suggested to them that the lethal skeletal disorder TD2 with cloverleaf skull (187601) may be a good candidate for further mutation searches in FGFR3. Furthermore, because of the phenotypic similarities between TD and homozygous achondroplasia, Arthur Beaudet independently suggested to Wasmuth (1995) that FGFR3 be studied in cases of TD. Indeed, Tavormina et al. (1995) found that 23 of 39 TD1 patients harbored amino acid substitutions in the extracellular domain of FGFR3. Of these, 22 patients were found to be heterozygous for the R248C substitution (134934.0005). One patient had a S371C substitution (134934.0006). Phenotypic heterogeneity was observed in TD1, in that 6 of 11 TD1 patients with cloverleaf skull and 16 of 28 patients without cloverleaf skull had the R248C mutation. Tavormina et al. (1995) found that all 16 patients with TD2 had a heterozygous K650E substitution (134934.0004). All 16 patients with TD2 had severe cloverleaf skull deformity with straight femurs. In a subsequent paper, Tavormina et al. (1995) identified a S249C mutation (134934.0013) in 4 cases of TD1. The authors proposed that the severe lethal phenotype in TD1 was more directly related to the introduction of a new cysteine residue than to the specific site of the amino acid substitution. They speculated that an unpaired cysteine residue in the cytoplasmic region of the protein may result in formation of intermolecular disulfide hybrids between two FGFR3 monomers, resulting in a constitutively active mutant receptor homodimer complex. </p><p>Rousseau et al. (1996) performed FGFR3 mutation analysis in 26 cases of TD1. Three missense mutations (Y373C, 134934.0016; R248C, 134934.0005; S249C, 134934.0013) accounted for 73% of the cases. Two stop codon mutations (X807R, 134934.0008; X807C, 134934.0009) and 1 rare G370C mutation were also found. Rousseau et al. (1996) noted that all reported missense mutations created cysteine residues and were located in the extracellular domain of the receptor. The findings provided support for the hypothesis that the newly created cysteine residues may allow disulfide bonds to form between the extracellular domains of mutant monomers, thus inducing constitutive activation of the homodimer receptor complex. </p><p>Brodie et al. (1999) examined 22 cases of thanatophoric dysplasia variants for the presence of missense mutations in FGFR3. All 17 cases of the San Diego variant (originally called the San Diego form of lethal short-limbed platyspondylic dysplasia) were heterozygous for the same FGFR3 mutations found in TD1; the R248C mutation was present in 7 of the 17 cases. Large inclusion bodies were found in all 14 cases of the San Diego type in which they were sought. Similar inclusion bodies were present in 2 of 72 thanatophoric dysplasia type I cases, but not in 39 controls. The material retained within the rough endoplasmic reticulum stained only with antibody to the FGFR3 protein. No mutations were identified in patients with the Torrance and Luton types of TD (151210). Brodie et al. (1999) suggested that the radiographic and cellular differences between thanatophoric dysplasia and the San Diego variant may be a consequence of other genetic factors, perhaps in the processing of mutant FGFR3 molecules within the rough endoplasmic reticulum. Hall (2002) noted that the San Diego form of platyspondylic lethal skeletal dysplasia (PLSD) described by Horton et al. (1979) had been classified as the same as thanatophoric dysplasia type I. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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>Wilcox et al. (1998) examined the clinical, radiographic, and histologic findings in 91 cases with FGFR3 mutations from the International Skeletal Dysplasia Registry. The most common mutation was R248C (134934.0005), occurring in 45 (50%) cases, and the second most common mutation was Y373C (134934.0016), occurring in 18 cases (20%). All of these patients had TD1 characterized by curved femora and infrequent cloverleaf skull. All 17 (19%) patients with the K650E mutation (134934.0004) had TD2, characterized by straight femora with craniosynostosis and frequent cloverleaf skull. TD1 patients with the Y373C mutation tended to have more severe radiographic manifestations than TD1 patients with the R248C mutation, but there was phenotypic overlap between them. Histopathologically, all cases shared similar abnormalities, but those with the K650E mutation had better preservation of the growth plate. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</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>Horton et al. (1988) delineated the process of abnormal ossification in 15 TD fetuses and infants from whom growth plate cartilage was obtained. </p><p>Delezoide et al. (1997) studied 18 thanatophoric dysplasia fetuses for FGFR3 expression in cartilage sections by in situ hybridization and immunohistochemistry. Specific antibodies revealed high amounts of FGFR3 in cartilage of TD fetuses with no increased level of the corresponding mRNA. The specific signal was mainly detected in the nucleus of proliferative and hypertrophic chondrocytes. Based on this observation and the abnormal expression of collagen type X (120110) in hypertrophic thanatophoric dysplasia chondrocytes, Delezoide et al. (1997) suggested that constitutive activation of the receptor through formation of a stable dimer increases its stability and promotes its translocation into the nucleus, where it might interfere with terminal chondrocyte differentiation. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Camera and Mastroiacovo (1982) identified 13 cases of thanatophoric dysplasia among 217,061 Italian births. All were sporadic. In the same series, there were 8 cases of achondroplasia (100800) and 1 case each of camptomelic dysplasia (114290), Ellis-van Creveld syndrome (225500), Larsen syndrome (150250), and Langer mesomelic dysplasia (249700). Thanatophoric dysplasia was the most frequent skeletal dysplasia.</p><p>Connor et al. (1985) identified 43 cases of lethal neonatal short-limb chondrodysplasias in the West of Scotland for the period 1970 to 1983, representing a minimum incidence of 1 in 8,900. TD had an incidence of 1 in 42,221 births. The differential diagnosis included a number of well-delineated skeletal dysplasias: asphyxiating thoracic dysplasia and short-rib polydactyly (see 208500), achondrogenesis type II (200700), metatropic dysplasia (156530), OI congenita (166210), campomelic dysplasia (114290), rhizomelic chondrodysplasia punctata (215100), hypophosphatasia (241500), SED congenita (183900), one case of Warfarin embryopathy, and one apparently 'new' condition with presumed autosomal recessive inheritance (see 273680). </p><p>Orioli et al. (1986) estimated the frequency of TD to be approximately 1 in 20,000 births, making it the most common neonatal lethal skeletal dysplasia. In a collaborative study in Spain, Martinez-Frias et al. (1988) identified 13 cases among 517,970 births, an incidence of 2.7 per 100,000 births. </p><p>Between 1970 and 1983 in Denmark, Andersen (1989) found 2 cases of thanatophoric dysplasia among 77,977 births, including stillbirths. In addition, there was 1 case of thanatophoric dysplasia with cloverleaf skull. </p><p>Using data from 7 population-based birth defects monitoring programs in the United States, Waller et al. (2008) estimated the prevalence of achondroplasia and thanatophoric dysplasia and presented data on the association between older paternal age and these conditions. The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 live births (1/33,330-1/47,620 live births). The prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 live births (1/27,780-1/16,670 live births). These data suggest that thanatophoric dysplasia is one-third to one-half as frequent as achondroplasia. The differences on the prevalence of these conditions across monitoring programs were consistent with random fluctuation. In Texas, fathers that were 25-29, 30-34, 35-39, and over 40 years of age had significantly increased rates of de novo achondroplasia and thanatophoric dysplasia among their offspring compared with younger fathers. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</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>Sabry (1974) reported affected triplets whose parents were first cousins. In reviewing the radiographs, however, Rimoin (1975) concluded that these sibs had achondrogenesis of the Parenti-Fraccaro type (200600). The affected sibs of normal parents, reported by Harris and Patton (1971), were subsequently concluded to have achondrogenesis (Harris et al., 1972). Chemke et al. (1971) and Graff et al. (1972) described thanatophoric dwarfism in 2 male offspring of first-cousin Moroccan Jewish parents. In the second-born affected sib the diagnosis was made antenatally by x-ray. However, after review of the radiographs of one, Rimoin (1975) concluded that this was not thanatophoric dwarfism. (Knowles et al. (1986) and Borochowitz et al. (1986) suggested that the disorder reported by Chemke et al. (1971) and Graff et al. (1972) was the same as the 'new' autosomal recessive dysplasia they described under the designation of Schneckenbecken dysplasia; see 269250.) </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Camera et al. (1984); Campbell (1971); Elejalde and de Elejalde
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(1985); Kaufman et al. (1970); Kozlowski et al. (1970); Maroteaux and
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Lamy (1968); Nissenbaum et al. (1977); Sato et al. (1981); Taybi and
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Lachman (1995)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Andersen, P. E., Jr.
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<strong>Prevalence of lethal osteochondrodysplasias in Denmark.</strong>
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Am. J. Med. Genet. 32: 484-489, 1989.
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[PubMed: 2789000]
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[Full Text: https://doi.org/10.1002/ajmg.1320320411]
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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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Baker, K. M., Olson, D. S., Harding, C. O., Pauli, R. M.
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<strong>Long-term survival in typical thanatophoric dysplasia type 1.</strong>
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Am. J. Med. Genet. 70: 427-436, 1997.
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[PubMed: 9182787]
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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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Borochowitz, Z., Jones, K. L., Silbey, R., Adomian, G., Lachman, R., Rimoin, D. L.
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<strong>A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.</strong>
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Am. J. Med. Genet. 25: 47-59, 1986.
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[PubMed: 3799723]
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[Full Text: https://doi.org/10.1002/ajmg.1320250107]
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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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Bouvet, J.-P., Maroteaux, P., Feingold, J.
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<strong>Etude genetique du nanisme thanatophore.</strong>
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Ann. Genet. 17: 181-188, 1974.
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[PubMed: 4548819]
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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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Brodie, S. G., Kitoh, H., Lachman, R. S., Nolasco, L. M., Mekikian, P. B., Wilcox, W. R.
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<strong>Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.</strong>
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Am. J. Med. Genet. 84: 476-480, 1999.
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[PubMed: 10360402]
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[Full Text: https://doi.org/10.1093/hmg/5.4.509]
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<strong>Thanatophoric dwarfism in triplets. (Letter)</strong>
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<strong>Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.</strong>
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Serville, F., Carles, D., Maroteaux, P.
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Sillence, D. O., Rimoin, D. L., Lachman, R. S.
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<strong>Neonatal dwarfism.</strong>
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Stensvold, K., Ek, J., Hovland, A. R.
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<strong>An infant with thanatophoric dwarfism surviving 169 days.</strong>
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Clin. Genet. 29: 157-159, 1986.
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Tavormina, P. L., Rimoin, D. L., Cohn, D. H., Zhu, Y.-Z., Shiang, R., Wasmuth, J. J.
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<strong>Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.</strong>
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Hum. Molec. Genet. 4: 2175-2177, 1995.
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Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y.-Z., Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Wasmuth, J. J.
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<strong>Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.</strong>
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Nature Genet. 9: 321-328, 1995.
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[PubMed: 7773297]
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Taybi, H., Lachman, R. S.
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Tonoki, H.
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<strong>A boy with thanatophoric dysplasia surviving 212 days. (Letter)</strong>
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Clin. Genet. 32: 415-416, 1987.
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Waller, D. K., Correa, A., Vo, T. M., Wang, Y., Hobbs, C., Langlois, P. H., Pearson, K., Romitti, P. A., Shaw, G. M., Hecht, J. T.
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<strong>The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.</strong>
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Wilcox, W. R., Tavormina, P. L., Krakow, D., Kitoh, H., Lachman, R. S., Wasmuth, J. J., Thompson, L. M., Rimoin, D. L.
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<strong>Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.</strong>
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Wongmongkolrit, T., Bush, M., Roessmann, U.
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<strong>Neuropathological findings in thanatophoric dysplasia.</strong>
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Arch. Path. Lab. Med. 107: 132-135, 1983.
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Young, I. D., Patel, I., Lamont, A. C.
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J. Med. Genet. 26: 276-279, 1989.
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