2158 lines
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Entry
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- #168400 - PARASTREMMATIC DWARFISM
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- OMIM
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<span class="h4">#168400</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/168400"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=PARASTREMMATIC DWARFISM" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2421&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/NBK201366/" 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/5596" 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=168400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2646" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/c4b099d4-6a72-43dd-a466-ff3f058a0183/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><a href="https://www.alliancegenome.org/disease/DOID:0111539" 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/168400" 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/OMIA000319/" 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:0111539" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 722210007<br />
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<strong>ORPHA:</strong> 2646<br />
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<strong>DO:</strong> 0111539<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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168400
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PARASTREMMATIC DWARFISM
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</h3>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/793?start=-3&limit=10&highlight=793">
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12q24.11
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</a>
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</span>
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<span class="mim-font">
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Parastremmatic dwarfism
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<td>
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<span class="mim-font">
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<a href="/entry/168400"> 168400 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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TRPV4
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<td>
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<span class="mim-font">
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<a href="/entry/605427"> 605427 </a>
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</span>
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</td>
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</tr>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/168400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/168400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/168400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Growth </strong>
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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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- Dwarfism identifiable during late infancy<br /> - Average adult height: 90 to 110 cm<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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<strong> Head </strong>
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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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- Normocephaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855201</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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<strong> Spine </strong>
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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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- Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> - Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
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</span>
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</div>
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|
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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> Neck </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- 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>
|
|
<span class="h5 mim-font">
|
|
<strong> Limbs </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Severe genu valgum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br /> - Bowing of long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855340</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006487</a>]</span><br /> - Legs twisted along the long axis<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">
|
|
<strong> Joints </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</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">
|
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<strong> Neuro </strong>
|
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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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|
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- Normal intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26941006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26941006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423900</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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<strong> Radiology </strong>
|
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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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- Coarse bone trabeculations with areas of irregular, dense stippling and streaking<br /> - Lace-like border of the iliac crests<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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<strong> Inheritance </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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<div 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 parastremmatic dwarfism is caused by heterozygous mutation in the TRPV4 gene (<a href="/entry/605427">605427</a>).</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="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<p><a href="#2" class="mim-tip-reference" title="Langer, L. O., Jr., Petersen, D., Spranger, J. W. <strong>An unusual bone dysplasia: parastremmatic dwarfism.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 110: 550-560, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4992387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4992387</a>] [<a href="https://doi.org/10.2214/ajr.110.3.550" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4992387">Langer et al. (1970)</a> described 3 patients with a form of dwarfism in which deformities are recognized in the first 6 to 12 months of life. They named the disorder parastremmatic from the Greek term for twisted. Clinically the full syndrome is manifested by 10 years. Adult height is 90 to 110 cm. There are bizarre and symmetric deformities of the legs with severe genu valgum, bowing of the long bones, twisted thighs and shanks along the long axis, short neck, kyphoscoliosis, multiple contractures of major joints, clear cornea and normal cardiovascular system. Intelligence is also normal and there is no abnormal mucopolysacchariduria. Radiographs show very coarse trabeculations with areas of irregular, dense stippling and streaking producing a 'flocky or woolly' appearance. In the pelvis this is seen as a lace-like border of the iliac crests. The metaphyses are clear and contain 'flocky' bone; severely deformed and radiolucent epiphyses are present. The evidence for dominant inheritance comes from the report of father and daughter by <a href="#4" class="mim-tip-reference" title="Rask, M. R. <strong>Morquio-Brailsford osteochondrodystrophy and osteogenesis imperfecta: report of a patient with both conditions.</strong> J. Bone Joint Surg. Am. 45: 561-570, 1963."None>Rask (1963)</a>. Since the daughter was as severely affected as the father, the causative gene is probably autosomal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4992387" 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="Sensenbrenner, J. A., Dorst, J. P., Hungerford, D. S. <strong>Parastremmatic dwarfism.In: Bergsma, D. : Skeletal Dysplasias.</strong> Amsterdam: Excerpta Medica (pub.) 1974. Pp. 425-429."None>Sensenbrenner et al. (1974)</a> reported a 24-year-old woman who displayed many of the features of the parastremmatic form of dwarfism. On radiography, the characteristic flaky appearance of areas of endochondral bone was seen only in some of the vertebrae, the proximal femur, and possibly near the deltoid tuberosities; bone density was noted to be surprisingly good in the limbs.</p><p><a href="#3" class="mim-tip-reference" title="Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A. <strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong> Am. J. Med. Genet. 152A: 1443-1449, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503319</a>] [<a href="https://doi.org/10.1002/ajmg.a.33414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503319">Nishimura et al. (2010)</a> examined a 7-year-old girl with short stature who had a marked 'windswept' deformity of the legs combined with flexion at the knee joint. Fingers and toes were long, and she had platyspondyly with thoracolumbar scoliosis and diffuse metaphyseal changes. Hand x-rays showed no brachydactyly, but carpal maturation appeared retarded. Both the distal femoral metaphyses and the proximal tibial metaphyses had a flaky appearance consistent with diffuse enchondromatosis. <a href="#3" class="mim-tip-reference" title="Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A. <strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong> Am. J. Med. Genet. 152A: 1443-1449, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503319</a>] [<a href="https://doi.org/10.1002/ajmg.a.33414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503319">Nishimura et al. (2010)</a> stated that the features of this patient fit well with parastremmatic dysplasia, and noted that her phenotype was similar to that of the patient described by <a href="#5" class="mim-tip-reference" title="Sensenbrenner, J. A., Dorst, J. P., Hungerford, D. S. <strong>Parastremmatic dwarfism.In: Bergsma, D. : Skeletal Dysplasias.</strong> Amsterdam: Excerpta Medica (pub.) 1974. Pp. 425-429."None>Sensenbrenner et al. (1974)</a>. In addition, because the spine changes in parastremmatic dysplasia are similar to those seen in metatropic dysplasia (<a href="/entry/156530">156530</a>), <a href="#3" class="mim-tip-reference" title="Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A. <strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong> Am. J. Med. Genet. 152A: 1443-1449, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503319</a>] [<a href="https://doi.org/10.1002/ajmg.a.33414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503319">Nishimura et al. (2010)</a> suggested that the former might be a variant of the latter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503319" 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 a 7-year-old girl with parastremmatic dwarfism, <a href="#3" class="mim-tip-reference" title="Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A. <strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong> Am. J. Med. Genet. 152A: 1443-1449, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503319</a>] [<a href="https://doi.org/10.1002/ajmg.a.33414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503319">Nishimura et al. (2010)</a> analyzed the candidate gene TRPV4 and identified heterozygosity for a missense mutation (R594H; <a href="/entry/605427#0003">605427.0003</a>) that had previously been found in patients with the Kozlowski type of spondylometaphyseal dysplasia (<a href="/entry/184252">184252</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503319" 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="#Horan1976" class="mim-tip-reference" title="Horan, F., Beighton, P. <strong>Parastremmatic dwarfism.</strong> J. Bone Joint Surg. Br. 58: 343-346, 1976.">Horan and Beighton (1976)</a>
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Horan, F., Beighton, P.
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<strong>Parastremmatic dwarfism.</strong>
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J. Bone Joint Surg. Br. 58: 343-346, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/956253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">956253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=956253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Langer, L. O., Jr., Petersen, D., Spranger, J. W.
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<strong>An unusual bone dysplasia: parastremmatic dwarfism.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 110: 550-560, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4992387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4992387</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4992387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A.
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<strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong>
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Am. J. Med. Genet. 152A: 1443-1449, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Morquio-Brailsford osteochondrodystrophy and osteogenesis imperfecta: report of a patient with both conditions.</strong>
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J. Bone Joint Surg. Am. 45: 561-570, 1963.
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<strong>Parastremmatic dwarfism.In: Bergsma, D. : Skeletal Dysplasias.</strong>
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Amsterdam: Excerpta Medica (pub.) 1974. Pp. 425-429.
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terry : 1/13/2011<br>carol : 12/22/2010<br>terry : 2/19/2009<br>mimadm : 1/14/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 10/18/1986
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<strong>SNOMEDCT:</strong> 722210007;
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<strong>ORPHA:</strong> 2646;
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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12q24.11
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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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Parastremmatic dwarfism
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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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168400
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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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</span>
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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TRPV4
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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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605427
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that parastremmatic dwarfism is caused by heterozygous mutation in the TRPV4 gene (605427).</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>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Langer et al. (1970) described 3 patients with a form of dwarfism in which deformities are recognized in the first 6 to 12 months of life. They named the disorder parastremmatic from the Greek term for twisted. Clinically the full syndrome is manifested by 10 years. Adult height is 90 to 110 cm. There are bizarre and symmetric deformities of the legs with severe genu valgum, bowing of the long bones, twisted thighs and shanks along the long axis, short neck, kyphoscoliosis, multiple contractures of major joints, clear cornea and normal cardiovascular system. Intelligence is also normal and there is no abnormal mucopolysacchariduria. Radiographs show very coarse trabeculations with areas of irregular, dense stippling and streaking producing a 'flocky or woolly' appearance. In the pelvis this is seen as a lace-like border of the iliac crests. The metaphyses are clear and contain 'flocky' bone; severely deformed and radiolucent epiphyses are present. The evidence for dominant inheritance comes from the report of father and daughter by Rask (1963). Since the daughter was as severely affected as the father, the causative gene is probably autosomal. </p><p>Sensenbrenner et al. (1974) reported a 24-year-old woman who displayed many of the features of the parastremmatic form of dwarfism. On radiography, the characteristic flaky appearance of areas of endochondral bone was seen only in some of the vertebrae, the proximal femur, and possibly near the deltoid tuberosities; bone density was noted to be surprisingly good in the limbs.</p><p>Nishimura et al. (2010) examined a 7-year-old girl with short stature who had a marked 'windswept' deformity of the legs combined with flexion at the knee joint. Fingers and toes were long, and she had platyspondyly with thoracolumbar scoliosis and diffuse metaphyseal changes. Hand x-rays showed no brachydactyly, but carpal maturation appeared retarded. Both the distal femoral metaphyses and the proximal tibial metaphyses had a flaky appearance consistent with diffuse enchondromatosis. Nishimura et al. (2010) stated that the features of this patient fit well with parastremmatic dysplasia, and noted that her phenotype was similar to that of the patient described by Sensenbrenner et al. (1974). In addition, because the spine changes in parastremmatic dysplasia are similar to those seen in metatropic dysplasia (156530), Nishimura et al. (2010) suggested that the former might be a variant of the latter. </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>In a 7-year-old girl with parastremmatic dwarfism, Nishimura et al. (2010) analyzed the candidate gene TRPV4 and identified heterozygosity for a missense mutation (R594H; 605427.0003) that had previously been found in patients with the Kozlowski type of spondylometaphyseal dysplasia (184252). </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">
|
|
Horan and Beighton (1976)
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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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Horan, F., Beighton, P.
|
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<strong>Parastremmatic dwarfism.</strong>
|
|
J. Bone Joint Surg. Br. 58: 343-346, 1976.
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[PubMed: 956253]
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[Full Text: https://doi.org/10.1302/0301-620X.58B3.956253]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Langer, L. O., Jr., Petersen, D., Spranger, J. W.
|
|
<strong>An unusual bone dysplasia: parastremmatic dwarfism.</strong>
|
|
Am. J. Roentgen. Radium Ther. Nucl. Med. 110: 550-560, 1970.
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[PubMed: 4992387]
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[Full Text: https://doi.org/10.2214/ajr.110.3.550]
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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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Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A.
|
|
<strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong>
|
|
Am. J. Med. Genet. 152A: 1443-1449, 2010.
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|
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[PubMed: 20503319]
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[Full Text: https://doi.org/10.1002/ajmg.a.33414]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Rask, M. R.
|
|
<strong>Morquio-Brailsford osteochondrodystrophy and osteogenesis imperfecta: report of a patient with both conditions.</strong>
|
|
J. Bone Joint Surg. Am. 45: 561-570, 1963.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sensenbrenner, J. A., Dorst, J. P., Hungerford, D. S.
|
|
<strong>Parastremmatic dwarfism.In: Bergsma, D. : Skeletal Dysplasias.</strong>
|
|
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 425-429.
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|
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Marla J. F. O'Neill - updated : 12/22/2010
|
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</span>
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</div>
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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