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<title>
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Entry
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- #151210 - PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11633&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK540447/" 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://medlineplus.gov/genetics/condition/platyspondylic-dysplasia-torrance-type" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85166" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="http://www.informatics.jax.org/disease/151210" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 85166<br />
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<strong>DO:</strong> 0111508<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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151210
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT
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</h3>
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<div>
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|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, TORRANCE TYPE<br />
|
|
THANATOPHORIC DYSPLASIA, TORRANCE VARIANT
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED; PLSDL, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
THANATOPHORIC DYSPLASIA, LUTON VARIANT, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/12/325?start=-3&limit=10&highlight=325">
|
|
12q13.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Platyspondylic skeletal dysplasia, Torrance type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/151210"> 151210 </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">
|
|
COL2A1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> 120140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/151210" 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/151210" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/151210" 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, neonatal short-limbed <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850171</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008921</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008921</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">
|
|
|
|
- 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">
|
|
|
|
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Narrow chest <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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short, thin ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849071</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Protuberant abdomen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854928</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001538" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001538</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001538" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001538</a>]</span><br />
|
|
|
|
</span>
|
|
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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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<span class="mim-font">
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- Luton type - hypercellular resting cartilage, normal and large cells, normal column formation, focal degenerating chondrocyte incorporation and focal disorganization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835440</a>]</span><br /> -
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Torrance type - Hypercellular resting cartilage, large cells, normal growth plate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835441</a>]</span><br />
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</span>
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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>
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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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- Decreased cranial base ossification <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005451" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005451</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005451" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005451</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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- Platyspondyly, extreme <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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Disc-like vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835444</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004591</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004591</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> Pelvis </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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- Hypoplastic, wide sacrosciatic notches <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835445&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835445</a>]</span><br /> -
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Flat acetabular roof <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003180</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003180</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Limbs </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Severe limb shortening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835446</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200083</a>]</span><br /> -
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Short, tubular long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835447</a>]</span><br /> -
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Metaphyseal cupping <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837082</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003021</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003021</a>]</span><br /> -
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Hypoplastic ilia <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 /> -
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Hypoplastic ischia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003175</a>]</span><br /> -
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Hypoplastic pubis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865030&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865030</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003173" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003173</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003173" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003173</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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- Luton and Torrance type differentiated based on histologic findings in cartilage<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, <a href="/entry/120140#0039">120140.0039</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 the Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is caused by heterozygous mutation in the COL2A1 gene (<a href="/entry/120140">120140</a>) on chromosome 12q13.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by <a href="#7" class="mim-tip-reference" title="Zankl, A., Neumann, L., Ignatius, J., Nikkels, P., Schrander-Stumpel, C., Mortier, G., Omran, H., Wright, M., Hilbert, K., Bonafe, L., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, Torrance type, and define a novel subfamily within the type 2 collagenopathies.</strong> Am. J. Med. Genet. 133A: 61-67, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15643621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15643621</a>] [<a href="https://doi.org/10.1002/ajmg.a.30531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15643621">Zankl et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15643621" 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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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="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> described an infant (patient 11) with a form of platyspondylic lethal skeletal dysplasia (PLSD) that they designated the Torrance type (PLSDT). Radiologically, the Torrance variety is characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping. Histologically, the growth plate appeared relatively normal. The resting cartilage appeared hypercellular with large chondrocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=448481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Winter, R. M., Thompson, E. M. <strong>Lethal, neonatal, short-limbed platyspondylic dwarfism: a further variant?</strong> Hum. Genet. 61: 269-272, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173874</a>] [<a href="https://doi.org/10.1007/BF00296459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7173874">Winter and Thompson (1982)</a> described another form of platyspondylic lethal skeletal dysplasia, which they called the Luton type (PLSDL), in a stillborn male infant. X-ray features were similar to those in PLSDT. Chondroosseous morphology showed hypercellular resting cartilage, and chondrocytes were irregular, ballooned, and arranged in clusters. PLSDL is considered to be a mild phenotypic variant of PLSDT (<a href="#4" class="mim-tip-reference" title="Nishimura, G., Nakashima, E., Mabuchi, A., Shimamoto, K., Shimamoto, T., Shimao, Y., Nagai, T., Yamaguchi, T., Kosaki, R., Ohashi, H., Makita, Y., Ikegawa, S. <strong>Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.</strong> J. Med. Genet. 41: 75-79, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14729840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14729840</a>] [<a href="https://doi.org/10.1136/jmg.2003.013722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14729840">Nishimura et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14729840+7173874" 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="Omran, H., Uhl, M., Brandis, M., Wilff, G. <strong>Survival and dominant transmission of 'lethal' platyspondylic dwarfism of the 'West coast' types.</strong> J. Pediat. 136: 411-413, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700704</a>] [<a href="https://doi.org/10.1067/mpd.2000.103443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700704">Omran et al. (2000)</a> reported an affected mother who gave birth to an affected daughter who died soon after birth. Both mother and daughter were described as having a large head, coarse facial features, depressed nasal bridge, protuberant abdomen, and severe micromelia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Neumann, L., Kunze, J., Uhl, M., Stover, B., Zabel, B., Spranger, J. <strong>Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.</strong> Pediat. Radiol. 33: 786-790, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12961049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12961049</a>] [<a href="https://doi.org/10.1007/s00247-003-1055-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12961049">Neumann et al. (2003)</a> reported an additional family with survival to adulthood and dominant transmission of the Torrance-Luton type of platyspondylic chondrodysplasia and additional radiographs of the family described by <a href="#5" class="mim-tip-reference" title="Omran, H., Uhl, M., Brandis, M., Wilff, G. <strong>Survival and dominant transmission of 'lethal' platyspondylic dwarfism of the 'West coast' types.</strong> J. Pediat. 136: 411-413, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700704</a>] [<a href="https://doi.org/10.1067/mpd.2000.103443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700704">Omran et al. (2000)</a>. Newborn radiographs demonstrated insufficient ossification of the anterior portions of the vertebral bodies and platyspondyly. In surviving patients, ossification of the vertebral bodies improved but the upper and lower endplates remained irregular. At birth, the long tubular bones were short and broad with smooth or slightly ragged metaphyseal borders. Survivors had short tubular bones with distinct metaphyseal flaring. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10700704+12961049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of PLSDT in 2 families reported by <a href="#7" class="mim-tip-reference" title="Zankl, A., Neumann, L., Ignatius, J., Nikkels, P., Schrander-Stumpel, C., Mortier, G., Omran, H., Wright, M., Hilbert, K., Bonafe, L., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, Torrance type, and define a novel subfamily within the type 2 collagenopathies.</strong> Am. J. Med. Genet. 133A: 61-67, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15643621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15643621</a>] [<a href="https://doi.org/10.1002/ajmg.a.30531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15643621">Zankl et al. (2005)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15643621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In each of 2 patients with the Torrance type of platyspondylic skeletal dysplasia, <a href="#4" class="mim-tip-reference" title="Nishimura, G., Nakashima, E., Mabuchi, A., Shimamoto, K., Shimamoto, T., Shimao, Y., Nagai, T., Yamaguchi, T., Kosaki, R., Ohashi, H., Makita, Y., Ikegawa, S. <strong>Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.</strong> J. Med. Genet. 41: 75-79, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14729840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14729840</a>] [<a href="https://doi.org/10.1136/jmg.2003.013722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14729840">Nishimura et al. (2004)</a> identified a de novo mutation in the COL2A1 gene (<a href="/entry/120140#0039">120140.0039</a> and <a href="/entry/120140#0040">120140.0040</a>, respectively). The former patient was stillborn and the latter, who demonstrated evolution of the phenotype into that of Kniest-like dysplasia (see <a href="/entry/156550">156550</a>), was still alive at 5 years of age at the time of report. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14729840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Zankl, A., Neumann, L., Ignatius, J., Nikkels, P., Schrander-Stumpel, C., Mortier, G., Omran, H., Wright, M., Hilbert, K., Bonafe, L., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, Torrance type, and define a novel subfamily within the type 2 collagenopathies.</strong> Am. J. Med. Genet. 133A: 61-67, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15643621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15643621</a>] [<a href="https://doi.org/10.1002/ajmg.a.30531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15643621">Zankl et al. (2005)</a> studied 8 additional cases of PLSDT and found that all had mutations in the C-propeptide domain of COL2A1, including the families described by <a href="#5" class="mim-tip-reference" title="Omran, H., Uhl, M., Brandis, M., Wilff, G. <strong>Survival and dominant transmission of 'lethal' platyspondylic dwarfism of the 'West coast' types.</strong> J. Pediat. 136: 411-413, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700704</a>] [<a href="https://doi.org/10.1067/mpd.2000.103443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700704">Omran et al. (2000)</a> and <a href="#3" class="mim-tip-reference" title="Neumann, L., Kunze, J., Uhl, M., Stover, B., Zabel, B., Spranger, J. <strong>Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.</strong> Pediat. Radiol. 33: 786-790, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12961049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12961049</a>] [<a href="https://doi.org/10.1007/s00247-003-1055-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12961049">Neumann et al. (2003)</a>. The mutational spectrum included missense, stop codon, and frameshift mutations. All nonsense mutations were located in the last exon, where they would escape nonsense-mediated RNA-decay. <a href="#7" class="mim-tip-reference" title="Zankl, A., Neumann, L., Ignatius, J., Nikkels, P., Schrander-Stumpel, C., Mortier, G., Omran, H., Wright, M., Hilbert, K., Bonafe, L., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, Torrance type, and define a novel subfamily within the type 2 collagenopathies.</strong> Am. J. Med. Genet. 133A: 61-67, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15643621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15643621</a>] [<a href="https://doi.org/10.1002/ajmg.a.30531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15643621">Zankl et al. (2005)</a> concluded that PLSDT is caused by mutations in the C-propeptide domain of COL2A1, which lead to biosynthesis of an altered collagen chain (as opposed to a null allele). Similar mutations cause spondyloperipheral dysplasia (see <a href="/entry/271700">271700</a>), a nonlethal dominant disorder whose clinical and radiographical features overlap those of the rare long-term survivors with PLSDT. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15643621+10700704+12961049" 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>Exclusion Studies</em></strong></p><p>
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<a href="#1" 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> searched for mutations in the FGFR3 gene (<a href="/entry/134934">134934</a>) in 22 cases of thanatophoric dysplasia variants; no mutations were identified in cases of the Torrance or Luton types. <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'})"><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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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: <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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Horton, W. A., Rimoin, D. L., Hollister, D. W., Lachman, R. S.
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<strong>Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types.</strong>
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J. Pediat. 94: 736-742, 1979.
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[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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=448481" 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/s0022-3476(79)80140-7" target="_blank">Full Text</a>]
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Neumann, L., Kunze, J., Uhl, M., Stover, B., Zabel, B., Spranger, J.
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<strong>Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.</strong>
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Pediat. Radiol. 33: 786-790, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12961049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12961049</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12961049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00247-003-1055-x" target="_blank">Full Text</a>]
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Nishimura, G., Nakashima, E., Mabuchi, A., Shimamoto, K., Shimamoto, T., Shimao, Y., Nagai, T., Yamaguchi, T., Kosaki, R., Ohashi, H., Makita, Y., Ikegawa, S.
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<strong>Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.</strong>
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J. Med. Genet. 41: 75-79, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14729840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14729840</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14729840" 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.2003.013722" target="_blank">Full Text</a>]
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Omran, H., Uhl, M., Brandis, M., Wilff, G.
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<strong>Survival and dominant transmission of 'lethal' platyspondylic dwarfism of the 'West coast' types.</strong>
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J. Pediat. 136: 411-413, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700704" 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/10.1067/mpd.2000.103443" target="_blank">Full Text</a>]
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Winter, R. M., Thompson, E. M.
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<strong>Lethal, neonatal, short-limbed platyspondylic dwarfism: a further variant?</strong>
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Hum. Genet. 61: 269-272, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7173874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00296459" target="_blank">Full Text</a>]
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Zankl, A., Neumann, L., Ignatius, J., Nikkels, P., Schrander-Stumpel, C., Mortier, G., Omran, H., Wright, M., Hilbert, K., Bonafe, L., Spranger, J., Zabel, B., Superti-Furga, A.
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<strong>Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, Torrance type, and define a novel subfamily within the type 2 collagenopathies.</strong>
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Am. J. Med. Genet. 133A: 61-67, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15643621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15643621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15643621" 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.30531" target="_blank">Full Text</a>]
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Anne M. Stumpf - updated : 03/10/2020
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Kelly A. Przylepa - updated : 3/9/2007<br>Victor A. McKusick - updated : 5/3/2004<br>Victor A. McKusick - updated : 7/2/2003
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Victor A. McKusick : 6/2/1986
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carol : 01/16/2024
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carol : 01/12/2024<br>carol : 03/11/2020<br>alopez : 03/10/2020<br>carol : 12/19/2011<br>carol : 3/9/2007<br>carol : 3/9/2007<br>tkritzer : 5/12/2004<br>terry : 5/3/2004<br>carol : 7/8/2003<br>terry : 7/2/2003<br>carol : 5/12/2000<br>terry : 5/3/1999<br>carol : 1/4/1999<br>alopez : 6/2/1997<br>mimadm : 11/5/1994<br>supermim : 3/16/1992<br>carol : 3/7/1992<br>carol : 3/3/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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<span class="mim-font">
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<strong>#</strong> 151210
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PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT
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LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, TORRANCE TYPE<br />
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THANATOPHORIC DYSPLASIA, TORRANCE VARIANT
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Other entities represented in this entry:
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PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED; PLSDL, INCLUDED
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THANATOPHORIC DYSPLASIA, LUTON VARIANT, INCLUDED
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<strong>ORPHA:</strong> 85166;
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<strong>DO:</strong> 0111508;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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12q13.11
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Platyspondylic skeletal dysplasia, Torrance type
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151210
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Autosomal dominant
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<span class="mim-font">
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3
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COL2A1
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120140
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because the Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.</p>
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<strong>Description</strong>
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<p>The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by Zankl et al., 2005). </p>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Horton et al. (1979) described an infant (patient 11) with a form of platyspondylic lethal skeletal dysplasia (PLSD) that they designated the Torrance type (PLSDT). Radiologically, the Torrance variety is characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping. Histologically, the growth plate appeared relatively normal. The resting cartilage appeared hypercellular with large chondrocytes. </p><p>Winter and Thompson (1982) described another form of platyspondylic lethal skeletal dysplasia, which they called the Luton type (PLSDL), in a stillborn male infant. X-ray features were similar to those in PLSDT. Chondroosseous morphology showed hypercellular resting cartilage, and chondrocytes were irregular, ballooned, and arranged in clusters. PLSDL is considered to be a mild phenotypic variant of PLSDT (Nishimura et al., 2004). </p><p>Omran et al. (2000) reported an affected mother who gave birth to an affected daughter who died soon after birth. Both mother and daughter were described as having a large head, coarse facial features, depressed nasal bridge, protuberant abdomen, and severe micromelia. </p><p>Neumann et al. (2003) reported an additional family with survival to adulthood and dominant transmission of the Torrance-Luton type of platyspondylic chondrodysplasia and additional radiographs of the family described by Omran et al. (2000). Newborn radiographs demonstrated insufficient ossification of the anterior portions of the vertebral bodies and platyspondyly. In surviving patients, ossification of the vertebral bodies improved but the upper and lower endplates remained irregular. At birth, the long tubular bones were short and broad with smooth or slightly ragged metaphyseal borders. Survivors had short tubular bones with distinct metaphyseal flaring. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of PLSDT in 2 families reported by Zankl et al. (2005) was consistent with autosomal dominant inheritance. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>In each of 2 patients with the Torrance type of platyspondylic skeletal dysplasia, Nishimura et al. (2004) identified a de novo mutation in the COL2A1 gene (120140.0039 and 120140.0040, respectively). The former patient was stillborn and the latter, who demonstrated evolution of the phenotype into that of Kniest-like dysplasia (see 156550), was still alive at 5 years of age at the time of report. </p><p>Zankl et al. (2005) studied 8 additional cases of PLSDT and found that all had mutations in the C-propeptide domain of COL2A1, including the families described by Omran et al. (2000) and Neumann et al. (2003). The mutational spectrum included missense, stop codon, and frameshift mutations. All nonsense mutations were located in the last exon, where they would escape nonsense-mediated RNA-decay. Zankl et al. (2005) concluded that PLSDT is caused by mutations in the C-propeptide domain of COL2A1, which lead to biosynthesis of an altered collagen chain (as opposed to a null allele). Similar mutations cause spondyloperipheral dysplasia (see 271700), a nonlethal dominant disorder whose clinical and radiographical features overlap those of the rare long-term survivors with PLSDT. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Brodie et al. (1999) searched for mutations in the FGFR3 gene (134934) in 22 cases of thanatophoric dysplasia variants; no mutations were identified in cases of the Torrance or Luton types. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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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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<p class="mim-text-font">
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Horton, W. A., Rimoin, D. L., Hollister, D. W., Lachman, R. S.
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<strong>Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types.</strong>
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J. Pediat. 94: 736-742, 1979.
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[PubMed: 448481]
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[Full Text: https://doi.org/10.1016/s0022-3476(79)80140-7]
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<p class="mim-text-font">
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Neumann, L., Kunze, J., Uhl, M., Stover, B., Zabel, B., Spranger, J.
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<strong>Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.</strong>
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Pediat. Radiol. 33: 786-790, 2003.
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[PubMed: 12961049]
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[Full Text: https://doi.org/10.1007/s00247-003-1055-x]
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Nishimura, G., Nakashima, E., Mabuchi, A., Shimamoto, K., Shimamoto, T., Shimao, Y., Nagai, T., Yamaguchi, T., Kosaki, R., Ohashi, H., Makita, Y., Ikegawa, S.
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<strong>Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.</strong>
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J. Med. Genet. 41: 75-79, 2004.
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[PubMed: 14729840]
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[Full Text: https://doi.org/10.1136/jmg.2003.013722]
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<p class="mim-text-font">
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Omran, H., Uhl, M., Brandis, M., Wilff, G.
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<strong>Survival and dominant transmission of 'lethal' platyspondylic dwarfism of the 'West coast' types.</strong>
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J. Pediat. 136: 411-413, 2000.
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[PubMed: 10700704]
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[Full Text: https://doi.org/10.1067/mpd.2000.103443]
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<li>
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<p class="mim-text-font">
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Winter, R. M., Thompson, E. M.
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<strong>Lethal, neonatal, short-limbed platyspondylic dwarfism: a further variant?</strong>
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Hum. Genet. 61: 269-272, 1982.
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[PubMed: 7173874]
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[Full Text: https://doi.org/10.1007/BF00296459]
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Zankl, A., Neumann, L., Ignatius, J., Nikkels, P., Schrander-Stumpel, C., Mortier, G., Omran, H., Wright, M., Hilbert, K., Bonafe, L., Spranger, J., Zabel, B., Superti-Furga, A.
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<strong>Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, Torrance type, and define a novel subfamily within the type 2 collagenopathies.</strong>
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Am. J. Med. Genet. 133A: 61-67, 2005.
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[PubMed: 15643621]
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[Full Text: https://doi.org/10.1002/ajmg.a.30531]
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Anne M. Stumpf - updated : 03/10/2020<br>Kelly A. Przylepa - updated : 3/9/2007<br>Victor A. McKusick - updated : 5/3/2004<br>Victor A. McKusick - updated : 7/2/2003
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Victor A. McKusick : 6/2/1986
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