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Entry
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- #127300 - LERI-WEILL DYSCHONDROSTEOSIS; LWD
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- OMIM
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<p>
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<span class="h4">#127300</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/127300"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=LERI-WEILL DYSCHONDROSTEOSIS" 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://decipher.sanger.ac.uk/syndrome/58" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1043&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/NBK1215/" 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/4180" 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://medlineplus.gov/genetics/condition/leri-weill-dyschondrosteosis" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=127300[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=240" 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/9d574ae5-225e-413d-9fe5-1f51d24180e4/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060847" 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/127300" 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/OMIA002013/" 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 class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</span>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:127300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 17818006<br />
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<strong>ORPHA:</strong> 240<br />
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<strong>DO:</strong> 0060847<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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127300
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LERI-WEILL DYSCHONDROSTEOSIS; LWD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
|
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DYSCHONDROSTEOSIS; DCO
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
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<span class="h3 mim-font">
|
|
MADELUNG DEFORMITY, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/14?start=-3&limit=10&highlight=14">
|
|
Xp22.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Leri-Weill dyschondrosteosis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127300"> 127300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Pseudoautosomal dominant">PD</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>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SHOX
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312865"> 312865 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/Y/4?start=-3&limit=10&highlight=4">
|
|
Yp11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Leri-Weill dyschondrosteosis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127300"> 127300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Pseudoautosomal dominant">PD</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">
|
|
SHOXY
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/400020"> 400020 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/127300" 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/127300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/127300" 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">
|
|
|
|
- Pseudoautosomal dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4746573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4746573</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">
|
|
|
|
- Short stature, disproportionate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/772086000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">772086000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003498</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003498</a>]</span><br /> -
|
|
Adult height 135cm to normal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851987</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> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mesomelia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549306</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003027</a>]</span><br /> -
|
|
Increased carrying angle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855478</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003102</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003102</a>]</span><br /> -
|
|
Limited elbow mobility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849955&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849955</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002996" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002996</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002996" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002996</a>]</span><br /> -
|
|
Bowing of the radius <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002986" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002986</a>]</span><br /> -
|
|
Dorsal subluxation of ulna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851988</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006459" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006459</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006459" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006459</a>]</span><br /> -
|
|
Short, mildly curved tibia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851989</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/359530003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">359530003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367450005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367450005</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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- Madelung wrist deformity (74% of LWD patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4530000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4530000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q74.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.54</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152441</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003067</a>]</span><br /> -
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Limited wrist mobility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851991</a>]</span><br />
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- Female preponderance<br /> -
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Madelung deformity more frequent and more severe in females<br /> -
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SHOX is located in the pseudoautosomal region of the X and Y chromosomes<br />
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- Caused by mutation in the short stature homeobox gene (SHOX, <a href="/entry/312865#0002">312865.0002</a>)<br />
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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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<p>A number sign (#) is used with this entry because of evidence that Leri-Weill dyschondrosteosis (LWD) is caused by heterozygous defects in the pseudoautosomal genes SHOX (<a href="/entry/312865">312865</a>) or SHOXY (<a href="/entry/400020">400020</a>) or by deletion of the SHOX downstream regulatory domain.</p><p>Because the mutation occurs in the pseudoautosomal region of the sex chromosomes, the inheritance of this disorder follows an autosomal (pseudoautosomal) dominant pattern.</p>
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<p>Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by <a href="#34" class="mim-tip-reference" title="Ross, J. L., Kowal, K., Quigley, C. A., Blum, W. F., Cutler, G. B., Jr., Crowe, B., Hovanes, K., Elder, F. F., Zinn, A. R. <strong>The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.</strong> J. Pediat. 147: 499-507, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227037</a>] [<a href="https://doi.org/10.1016/j.jpeds.2005.04.069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227037">Ross et al., 2005</a>). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (<a href="#27" class="mim-tip-reference" title="Langer, L. O., Jr. <strong>Dyschondrosteosis, a heritable bone dysplasia with characteristic roentgenographic features.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 95: 178-188, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14344358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14344358</a>] [<a href="https://doi.org/10.2214/ajr.95.1.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14344358">Langer, 1965</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14344358+16227037" 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>See also Langer mesomelic dysplasia (LMD; <a href="/entry/249700">249700</a>), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.</p>
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<p>The disorder was first described by <a href="#28" class="mim-tip-reference" title="Leri, A., Weill, J. <strong>Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose.</strong> Bull. Mem. Soc. Med. Hop. Paris 53: 1491-1494, 1929."None>Leri and Weill (1929)</a>. <a href="#26" class="mim-tip-reference" title="Lamy, M., Bienenfeld, C. <strong>La dyschondrosteose. In: Gedda, L.: De Genetica Medica.</strong> Rome: Istituto Gregorio Mendel (pub.) 1954."None>Lamy and Bienenfeld (1954)</a> described affected mother and son. The fibula was absent in both.</p><p><a href="#27" class="mim-tip-reference" title="Langer, L. O., Jr. <strong>Dyschondrosteosis, a heritable bone dysplasia with characteristic roentgenographic features.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 95: 178-188, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14344358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14344358</a>] [<a href="https://doi.org/10.2214/ajr.95.1.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14344358">Langer (1965)</a> reported 3 families. The deformity of the forearm consists of bowing of the radius and dorsal dislocation of the distal ulna, resulting in limited motion at the elbow and wrist. <a href="#37" class="mim-tip-reference" title="Rullier, J., Labram, C., Lazarovici, A. M., Rousselot, R. <strong>Dyschondrosteose familiale. Etude de trois cas (mere et ses deux fils).</strong> Sem. Hop. Paris 44: 2474-2479, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4301239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4301239</a>]" pmid="4301239">Rullier et al. (1968)</a> observed dyschondrosteosis in mother and 2 daughters. <a href="#31" class="mim-tip-reference" title="Nassif, R., Harboyan, G. <strong>Madelung's deformity with conductive hearing loss.</strong> Arch. Otolaryng. 91: 175-178, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5410085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5410085</a>] [<a href="https://doi.org/10.1001/archotol.1970.00770040245014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5410085">Nassif and Harboyan (1970)</a> described 2 brothers with Leri dyschondrosteosis, who also had middle ear deformities and conductive hearing loss. Three sisters had the skeletal deformity with normal hearing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14344358+4301239+5410085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Dawe, C., Wynne-Davies, R., Fulford, G. E. <strong>Clinical variation in dyschondrosteosis: a report on 13 individuals in 8 families.</strong> J. Bone Joint Surg. Br. 64: 377-381, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7096409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7096409</a>] [<a href="https://doi.org/10.1302/0301-620X.64B3.7096409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7096409">Dawe et al. (1982)</a> reviewed 13 patients with dyschondrosteosis from 8 families. Stature was moderately reduced due to shortening of the bones of the leg. Radioulnar shortening could involve either both bones equally or the radius predominantly, in which case a typical Madelung deformity was seen. Tibiofibular disproportion was present in half the patients, 2 of them having severe deformity associated with tibia varum and a long fibula. The authors recommended that patients with dyschondrosteosis be kept under surveillance during the growing period, since problems in the limbs, especially the legs, may require operations to equalize the length of the 2 bones. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7096409" 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="#35" class="mim-tip-reference" title="Ross, J. L., Scott, C., Jr., Marttila, P., Kowal, K., Nass, A., Papenhausen, P., Abboudi, J., Osterman, L., Kushner, H., Carter, P., Ezaki, M., Elder, F., Wei, F., Chen, H., Zinn, A. R. <strong>Phenotypes associated with SHOX deficiency.</strong> J. Clin. Endocr. Metab. 86: 5674-5680, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11739418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11739418</a>] [<a href="https://doi.org/10.1210/jcem.86.12.8125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11739418">Ross et al. (2001)</a> studied 21 LWD families (43 affected LWD subjects, including 32 females and 11 males, aged 3 to 56 years) with confirmed SHOX gene abnormalities. In the LWD subjects, height deficits ranged from -4.6 to +0.6 SD (mean +/- SD = -2.2 +/- 1.0). There were no statistically significant effects on age, gender, pubertal status, or parental origin of SHOX mutations on height z-score. The height deficit in LWD was approximately two-thirds that of Turner syndrome. Madelung deformity was present in 74% of LWD children and adults and was more frequent and severe in females than males. The prevalence of Madelung deformity was higher in the LWD versus a Turner syndrome population. The prevalence of increased carrying angle, high-arched palate, and scoliosis was similar in the 2 populations. SHOX deletions were present in affected individuals from 17 families (81%), and point mutations were detected in 4 families (19%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11739418" 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>Among 34 prepubertal genetically confirmed patients with LWD (ages 1 to 10), including 20 girls and 14 boys, <a href="#34" class="mim-tip-reference" title="Ross, J. L., Kowal, K., Quigley, C. A., Blum, W. F., Cutler, G. B., Jr., Crowe, B., Hovanes, K., Elder, F. F., Zinn, A. R. <strong>The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.</strong> J. Pediat. 147: 499-507, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227037</a>] [<a href="https://doi.org/10.1016/j.jpeds.2005.04.069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227037">Ross et al. (2005)</a> found a decreased height SD score (SDS) compared to controls for both sexes (-2.3 for girls and -1.8 for boys). Arm spans were also decreased (SDS -3.2 for girls and -2.3 for boys), indicating early development of mesomelia in the arms. Tibial bowing was seen in 8 (40%) of 20 girls and 4 (29%) of 14 boys. Wrist changes related to Madelung deformity were present in 18 (53%) of 34 LWD individuals. Bone age was not significantly decreased in either girls or boys. A separate comparison of 24 girls with LWD aged 1 to 15 years and 76 girls with Turner syndrome showed similar mean height deficits (SDS -2.7 for both groups). This suggested that SHOX haploinsufficiency is responsible for most of the height deficit observed in Turner syndrome. There was evidence for mesomelia in the LWD group, which was not present in the Turner group. Overall, Madelung deformity, increased carrying angle, tibial bowing, and scoliosis were more prevalent in the LWD population, whereas high arched-palate was similarly prevalent in both LWD and Turner syndrome. <a href="#34" class="mim-tip-reference" title="Ross, J. L., Kowal, K., Quigley, C. A., Blum, W. F., Cutler, G. B., Jr., Crowe, B., Hovanes, K., Elder, F. F., Zinn, A. R. <strong>The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.</strong> J. Pediat. 147: 499-507, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227037</a>] [<a href="https://doi.org/10.1016/j.jpeds.2005.04.069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227037">Ross et al. (2005)</a> concluded that short stature is common in both LWD girls and boys before puberty, and Turner syndrome girls. Clinical clues to the diagnosis of SHOX haploinsufficiency in childhood thus include short stature, short limbs, wrist changes, and tibial bowing. None of the patients had been treated with growth hormone, and some of the patients had previously been reported (<a href="#35" class="mim-tip-reference" title="Ross, J. L., Scott, C., Jr., Marttila, P., Kowal, K., Nass, A., Papenhausen, P., Abboudi, J., Osterman, L., Kushner, H., Carter, P., Ezaki, M., Elder, F., Wei, F., Chen, H., Zinn, A. R. <strong>Phenotypes associated with SHOX deficiency.</strong> J. Clin. Endocr. Metab. 86: 5674-5680, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11739418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11739418</a>] [<a href="https://doi.org/10.1210/jcem.86.12.8125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11739418">Ross et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11739418+16227037" 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>Madelung Deformity</em></strong></p><p>
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A complete review of Madelung deformity was provided by <a href="#1" class="mim-tip-reference" title="Anton, J. I., Reitz, G. B., Spiegel, M. B. <strong>Madelung's deformity.</strong> Ann. Surg. 108: 411-439, 1938.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17857243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17857243</a>] [<a href="https://doi.org/10.1097/00000658-193809000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17857243">Anton et al. (1938)</a>. <a href="#27" class="mim-tip-reference" title="Langer, L. O., Jr. <strong>Dyschondrosteosis, a heritable bone dysplasia with characteristic roentgenographic features.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 95: 178-188, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14344358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14344358</a>] [<a href="https://doi.org/10.2214/ajr.95.1.178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14344358">Langer (1965)</a> suggested that most of all cases of Madelung deformity indicate dyschondrosteosis. In a review, however, <a href="#13" class="mim-tip-reference" title="Felman, A. H., Kirkpatrick, J. A., Jr. <strong>Madelung's deformity: observations in 17 patients.</strong> Radiology 93: 1037-1042, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5350668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5350668</a>] [<a href="https://doi.org/10.1148/93.5.1037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5350668">Felman and Kirkpatrick (1969)</a> concluded that patients taller than the 25th percentile for height probably do not have dyschondrosteosis, that a hereditary entity of Madelung deformity distinct from dyschondrosteosis exists, that patients with the isolated Madelung deformity may be short, and that marked shortening of the tibia relative to the femur suggests dyschondrosteosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14344358+5350668+17857243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Goepp, C. E., Jackson, L. G., Barr, M. A. <strong>Dyschondrosteosis: a family showing male-to-male transmission in 5 generations. (Abstract)</strong> Am. J. Hum. Genet. 30: 52A only, 1978."None>Goepp et al. (1978)</a> traced LWS through 5 generations and observed male-to-male transmission in 14 instances. In all, 34 persons were affected.</p><p><a href="#29" class="mim-tip-reference" title="Lichtenstein, J. R., Sundaram, M., Burdge, R. <strong>Sex-influenced expression of Madelung's deformity in a family with dyschondrosteosis.</strong> J. Med. Genet. 17: 41-43, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7365762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7365762</a>] [<a href="https://doi.org/10.1136/jmg.17.1.41" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7365762">Lichtenstein et al. (1980)</a> reported male-to-male transmission. They commented that females showed dyschondrosteosis and Madelung deformity; males showed only the latter. <a href="#10" class="mim-tip-reference" title="Dawe, C., Wynne-Davies, R., Fulford, G. E. <strong>Clinical variation in dyschondrosteosis: a report on 13 individuals in 8 families.</strong> J. Bone Joint Surg. Br. 64: 377-381, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7096409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7096409</a>] [<a href="https://doi.org/10.1302/0301-620X.64B3.7096409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7096409">Dawe et al. (1982)</a> reviewed 13 patients with dyschondrosteosis from 8 families and concluded that inheritance is likely to be autosomal dominant, but with only 50% penetrance. <a href="#24" class="mim-tip-reference" title="Jackson, L. G. <strong>Dyschondrosteosis: clinical study of a sixth generation family. (Abstract)</strong> Proc. Greenwood Genet. Center 4: 147-148, 1985."None>Jackson (1985)</a> traced this disorder through 6 generations of a family, with 39 affected persons and 12 instances of male-to-male transmission. Several members belied the impression that females are always more severely affected than males. He suggested that the disorder is more frequent than generally realized and that an abnormally low ratio of forearm to upper arm length may be a valuable diagnostic clue. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7365762+7096409" 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="#15" class="mim-tip-reference" title="Fryns, J. P., Van den Berghe, H. <strong>Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.</strong> Hum. Genet. 46: 21-27, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/429003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">429003</a>] [<a href="https://doi.org/10.1007/BF00278898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="429003">Fryns and Van den Berghe (1979)</a> presented a male newborn with the typical Langer type of mesomelic dwarfism (<a href="/entry/249700">249700</a>). The finding of a variable degree of Madelung deformity and mesomelic shortening in both parents and in the maternal family supported the hypothesis that this type of mesomelic dwarfism may be the clinical manifestation of a homozygous state for dyschondrosteosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=429003" 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="#36" class="mim-tip-reference" title="Roubicek, M., Arriazu, M. C., Isaac, G. <strong>SHOX deficiency phenotypes.</strong> J. Clin. Endocr. Metab. 88: 4004 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915706</a>] [<a href="https://doi.org/10.1210/jc.2002-020285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915706">Roubicek et al. (2003)</a> suggested that since the SHOX gene is located in the pseudoautosomal region of the sex chromosomes, the correct term for the type of hereditary transmission of the associated phenotype should be a 'pseudoautosomal dominant,' 'sex chromosomal dominant,' or 'gonosomal dominant' form of mesomelic dysplasia. They stated that the genetics literature should be corrected accordingly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915706" 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>Leri-Weill dyschondrosteosis can be defined genetically by haploinsufficiency of the SHOX gene. <a href="#3" class="mim-tip-reference" title="Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).</strong> Nature Genet. 19: 67-69, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590292</a>] [<a href="https://doi.org/10.1038/ng0198-67" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590292">Belin et al. (1998)</a> and <a href="#42" class="mim-tip-reference" title="Shears, D. J., Vassal, H. J., Goodman, F. R., Palmer, R. W., Reardon, W., Superti-Furga, A., Scambler, P. J., Winter, R. M. <strong>Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.</strong> Nature Genet. 19: 70-73, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590293</a>] [<a href="https://doi.org/10.1038/ng0198-70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590293">Shears et al. (1998)</a> showed that Leri-Weill dyschondrosteosis is linked to DNA markers in the pseudoautosomal region (PAR1) on the X and Y chromosomes. In patients with the disorder, mutations were identified in the SHOX gene (<a href="/entry/312865#0002">312865.0002</a>-<a href="/entry/312865#0003">312865.0003</a>). <a href="#3" class="mim-tip-reference" title="Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).</strong> Nature Genet. 19: 67-69, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590292</a>] [<a href="https://doi.org/10.1038/ng0198-67" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590292">Belin et al. (1998)</a> demonstrated homozygous absence of the SHOX gene in a fetus with Langer-type mesomelic dysplasia (<a href="/entry/249700">249700</a>), which had previously been postulated to be the homozygous form of Leri-Weill dyschondrosteosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9590292+9590293" 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="#20" class="mim-tip-reference" title="Grigelioniene, G., Eklof, O., Ivarsson, S. A., Westphal, O., Neumeyer, L., Kedra, D., Dumanski, J., Hagenas, L. <strong>Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.</strong> Hum. Genet. 107: 145-149, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030412</a>] [<a href="https://doi.org/10.1007/s004390000352" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11030412">Grigelioniene et al. (2000)</a> performed mutation analysis of the coding region of the SHOX gene in 5 LWD patients and identified 3 novel mutations (<a href="/entry/312865#0004">312865.0004</a>-<a href="/entry/312865#0006">312865.0006</a>), including 2 missense mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030412" 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="#23" class="mim-tip-reference" title="Huber, C., Cusin, V., Le Merrer, M., Mathieu, M., Sulmont, V., Dagoneau, N., Munnich, A., Cormier-Daire, V. <strong>SHOX point mutations in dyschondrosteosis.</strong> J. Med. Genet. 38: 323 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11403039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11403039</a>] [<a href="https://doi.org/10.1136/jmg.38.5.323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11403039">Huber et al. (2001)</a> studied 8 families with dyschondrosteosis and found point mutations in the SHOX gene in 5 families and deletions in 3 (see, e.g., <a href="/entry/312865#0007">312865.0007</a>). Combined with the results of their previous work (<a href="#3" class="mim-tip-reference" title="Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).</strong> Nature Genet. 19: 67-69, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590292</a>] [<a href="https://doi.org/10.1038/ng0198-67" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590292">Belin et al., 1998</a>), 10 of 16 families with this phenotype had deletions of the SHOX gene, while 6 of 16 had point mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9590292+11403039" 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="#33" class="mim-tip-reference" title="Ross, J. L., Bellus, G., Scott, C. I., Jr., Abboudi, J., Grigelioniene, G., Zinn, A. R. <strong>Mesomelic and rhizomelic short stature: the phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.</strong> Am. J. Med. Genet. 116A: 61-65, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12476453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12476453</a>] [<a href="https://doi.org/10.1002/ajmg.a.10807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12476453">Ross et al. (2003)</a> studied 2 children with combined genetic skeletal disorders. A brother and sister with LWD due to heterozygosity for deletion in the SHOX gene and possible heterozygosity for another SHOX mutation were married to, respectively, a woman with achondroplasia due to the G380R mutation in FGFR3 (<a href="/entry/134934#0001">134934.0001</a>) and a man with hypochondroplasia due to the N540K mutation in the FGFR3 gene (<a href="/entry/134934#0010">134934.0010</a>). All 4 of their children had LWD. The woman had a son who was heterozygous for the SHOX deletion and a daughter who was a double heterozygote for the SHOX deletion and the N540K achondroplasia mutation. This child had both mesomelic and rhizomelic short stature. The man had a daughter who was a double heterozygote for the hypochondroplasia G380R mutation and a presumed mutation in the SHOX gene. She likewise had both mesomelic and rhizomelic short stature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12476453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected individuals with LWD or LMD from 12 Spanish multiplex families, 2 of which had previously been studied (Sabherwal et al. (<a href="#39" class="mim-tip-reference" title="Sabherwal, N., Blaschke, R. J., Marchini, A., Heine-Suner, D., Rosell, J., Ferragut, J., Blum, W. F., Rappold, G. <strong>A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia.</strong> J. Med. Genet. 41: e83, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173249</a>] [<a href="https://doi.org/10.1136/jmg.2003.016402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173249">2004</a>, <a href="#40" class="mim-tip-reference" title="Sabherwal, N., Schneider, K. U., Blaschke, R. J., Marchini, A., Rappold, G. <strong>Impairment of SHOX nuclear localization as a cause for Leri-Weill syndrome.</strong> J. Cell Sci. 117: 3041-3048, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173321</a>] [<a href="https://doi.org/10.1242/jcs.01152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173321">2004</a>)), <a href="#2" class="mim-tip-reference" title="Barca-Tierno, V., Aza-Carmona, M., Barroso, E., Heine-Suner, D., Azmanov, D., Rosell, J., Ezquieta, B., Montane, L. S., Vendrell, T., Cruz, J., Santos, F., Rodriguez, J. I., Pozo, J., Argente, J., Kalaydjieva, L., Gracia, R., Campos-Barros, A., Benito-Sanz, S., Heath, K. E. <strong>Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia.</strong> Europ. J. Hum. Genet. 19: 1218-1225, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21712857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21712857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21712857[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2011.128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21712857">Barca-Tierno et al. (2011)</a> identified heterozygosity or homozygosity, respectively, for an A170P mutation (<a href="/entry/312865#0014">312865.0014</a>) in the SHOX gene. In all families, A170P cosegregated with the fully penetrant phenotype of mesomelic limb shortening and Madelung deformity. Microsatellite analysis revealed a shared haplotype around SHOX, confirming the presence of a common ancestor, probably of Gypsy origin, as 11 of the 12 families were of that ethnic group. Another mutation at the same location, A170D (<a href="/entry/312865#0015">312865.0015</a>), was identified in 2 unrelated non-Gypsy Spanish families with LWD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15173249+21712857+15173321" 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>Deletions of the SHOX Downstream Regulatory Domain</em></strong></p><p>
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<a href="#38" class="mim-tip-reference" title="Sabherwal, N., Bangs, F., Roth, R., Weiss, B., Jantz, K., Tiecke, E., Hinkel, G. K., Spaich, C., Hauffa, B. P., van der Kamp, H., Kapeller, J., Tickle, C., Rappold, G. <strong>Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.</strong> Hum. Molec. Genet. 16: 210-222, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200153</a>] [<a href="https://doi.org/10.1093/hmg/ddl470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17200153">Sabherwal et al. (2007)</a> analyzed the DNA of 122 patients with clinical manifestations of LWD, and identified an intragenic mutation in 17 and deletion of the entire gene in 47; further screening identified 4 families with an intact SHOX coding region who had microdeletions in the 3-prime pseudoautosomal region, with a common deletion interval of approximately 200 kb that segregated with disease in each family. Comparative genetic analysis revealed 8 highly conserved noncoding DNA elements (CNE2 to CNE9) within this interval, located between 48 and 215 kb downstream of the SHOX gene, and functional analysis showed that CNE4, CNE5, and CNE9 had cis-regulatory activity in the developing limbs of chicken embryos. <a href="#38" class="mim-tip-reference" title="Sabherwal, N., Bangs, F., Roth, R., Weiss, B., Jantz, K., Tiecke, E., Hinkel, G. K., Spaich, C., Hauffa, B. P., van der Kamp, H., Kapeller, J., Tickle, C., Rappold, G. <strong>Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.</strong> Hum. Molec. Genet. 16: 210-222, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200153</a>] [<a href="https://doi.org/10.1093/hmg/ddl470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17200153">Sabherwal et al. (2007)</a> stated that their findings indicated that the deleted region in the affected families contains several distinct elements that regulate SHOX expression in the developing limb, and noted that deletion of these elements in humans with both SHOX genes intact generates a phenotype apparently indistinguishable from that of patients with mutations in the SHOX coding region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17200153" 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="#9" class="mim-tip-reference" title="Chen, J., Wildhardt, G., Zhong, Z., Roth, R., Weiss, B., Steinberger, D., Decker, J., Blum, W. F., Rappold, G. <strong>Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory region.</strong> J. Med. Genet. 46: 834-839, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19578035[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.067785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19578035">Chen et al. (2009)</a> analyzed copy number variation in the pseudoautosomal region of the sex chromosomes in 735 individuals with idiopathic short stature (ISS) and in 58 patients with Leri-Weill syndrome. They identified 31 microdeletions in the pseudoautosomal region in ISS patients, 8 of which involved only enhancer CNEs (CNE7, CNE8, and CNE9) residing at least 150 kb centromeric to the SHOX gene. In the Leri-Weill patients, 29 microdeletions were identified, 13 of which involved CNEs and left the SHOX gene intact. These deletions were not found in 100 controls. <a href="#9" class="mim-tip-reference" title="Chen, J., Wildhardt, G., Zhong, Z., Roth, R., Weiss, B., Steinberger, D., Decker, J., Blum, W. F., Rappold, G. <strong>Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory region.</strong> J. Med. Genet. 46: 834-839, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19578035[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.067785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19578035">Chen et al. (2009)</a> concluded that enhancer deletions in the SHOX downstream region are a relatively frequent cause of growth failure in patients with idiopathic short stature and Leri-Weill syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Benito-Sanz, S., Royo, J. L., Barroso, E., Paumard-Hernandez, B., Barreda-Bonis, A. C., Liu, P., Gracia, R., Lupski, J. R., Campos-Barros, A., Gomez-Skarmeta, J. L., Heath, K. E. <strong>Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.</strong> J. Med. Genet. 49: 442-450, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22791839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22791839</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100678" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22791839">Benito-Sanz et al. (2012)</a> identified a recurrent 47.5-kb deletion in the pseudoautosomal region 1 (PAR1) downstream of the SHOX gene (<a href="/entry/312865#0016">312865.0016</a>) in 19 of 124 probands with Leri-Weill dyschondrosteosis (15.3%) and 11 of 576 probands with idiopathic short stature (<a href="/entry/300582">300582</a>) (1.9%). The deletion did not include any of the SHOX enhancer elements known at that time. Conservation analysis of the deleted region followed by chromosome conformation capture and luciferase reporter assays demonstrated the presence of an evolutionarily conserved region (ECR1) that acted as a novel orientation- and position-independent SHOX enhancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22791839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Calabrese, G., Fischetto, R., Stuppia, L., Capodiferro, F., Mingarelli, R., Causio, F., Rocchi, M., Rappold, G. A., Palka, G. <strong>X/Y translocation in a family with Leri-Weill dyschondrosteosis.</strong> Hum. Genet. 105: 367-368, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10543407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10543407</a>] [<a href="https://doi.org/10.1007/s004399900113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10543407">Calabrese et al. (1999)</a> described an X/Y translocation as the apparent basis of Leri-Weill dyschondrosteosis in a boy and his mother. FISH analysis with specific probes for SHOX and SRY (<a href="/entry/480000">480000</a>) displayed no signal on the derivative X, while one signal for SHOX was detected on the normal X chromosome in the mother and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband. The boy was first evaluated at the age of 7 years because of skeletal dysplasia. He showed short lower limbs. Radiologic studies showed enlargement of the ulna and radius and bowing of the knees. One year later, bowing of the radius and distal ulnar dislocation was found. The 34-year-old mother had short stature (150 cm), bowing of the radius, and bilateral subluxation of the distal ulna. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10543407" 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="#44" class="mim-tip-reference" title="Stuppia, L., Calabrese, G., Borrelli, P., Gatta, V., Morizio, E., Mingarelli, R., Di Gilio, M. C., Crino, A., Gianotti, A., Rappold, G. A., Palka, G. <strong>Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.</strong> J. Med. Genet. 36: 711-713, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507731</a>]" pmid="10507731">Stuppia et al. (1999)</a> reported a phenotypically male child with a 45,X karyotype who had dyschondrosteosis. FISH analysis with SHOX and SRY probes detected hemizygosity for SHOX and the presence of SRY on Xp. Molecular analysis suggested that the 45,X karyotype arose as a result of unequal crossing-over at paternal meiosis, translocating SRY onto Xp, and a separate event at maternal meiosis or in the early stages of zygote formation leading to the loss of the maternal X chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#41" class="mim-tip-reference" title="Schiller, S., Spranger, S., Schechinger, B., Fukami, M., Merker, S., Drop, S. L. S., Troger, J., Knoblauch, H., Kunze, J., Seidel, J., Rappold, G. A. <strong>Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome.</strong> Europ. J. Hum. Genet. 8: 54-62, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10713888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10713888</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10713888">Schiller et al. (2000)</a> studied 32 patients with Leri-Weill dyschondrosteosis from 18 different German and Dutch families and presented clinical, radiologic, and molecular data. Phenotypic manifestations were generally more severe in females. In males, muscular hypertrophy was a frequent finding. The authors identified submicroscopic deletions encompassing the SHOX gene in 10 of 18 families investigated; deletion sizes varied between 100 kb and 9 Mb and did not correlate with the severity of the phenotype. <a href="#41" class="mim-tip-reference" title="Schiller, S., Spranger, S., Schechinger, B., Fukami, M., Merker, S., Drop, S. L. S., Troger, J., Knoblauch, H., Kunze, J., Seidel, J., Rappold, G. A. <strong>Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome.</strong> Europ. J. Hum. Genet. 8: 54-62, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10713888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10713888</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10713888">Schiller et al. (2000)</a> did not detect SHOX mutations in almost half (41%) of the LWD families studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10713888" 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="Benito-Sanz, S., Thomas, N. S., Huber, C., Gorbenko del Blanco, D., Aza-Carmona, M., Crolla, J. A., Maloney, V., Rappold, G., Argente, J., Campos-Barros, A., Cormier-Daire, V., Heath, K. E. <strong>A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.</strong> Am. J. Hum. Genet. 77: 533-544, 2005. Note: Erratum: Am. J. Hum. Genet. 77: 1131 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16175500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16175500</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16175500[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/449313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16175500">Benito-Sanz et al. (2005)</a> identified 12 LWD patients who presented with a novel class of PAR1 deletions that did not include the SHOX gene. No apparent phenotypic differences were observed between patients with SHOX deletions and those with this new class of PAR1 deletions. The findings indicated the presence of distal regulatory elements of SHOX transcription in PAR1 or, alternatively, the existence of an additional locus apparently involved in the control of skeletal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16175500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#32" class="mim-tip-reference" title="Ogata, T., Matsuo, N., Nishimura, G. <strong>SHOX haploinsufficiency and overdosage: impact of gonadal function status.</strong> J. Med. Genet. 38: 1-6, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134233</a>] [<a href="https://doi.org/10.1136/jmg.38.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134233">Ogata et al. (2001)</a> reviewed the clinical features and diagnostic and therapeutic implications of SHOX haploinsufficiency and overdosage. They suggested that identification of Madelung deformity is important in the clinical diagnosis of SHOX haploinsufficiency and that gonadal suppression therapy may mitigate the clinical features, including mesomelic short stature. <a href="#32" class="mim-tip-reference" title="Ogata, T., Matsuo, N., Nishimura, G. <strong>SHOX haploinsufficiency and overdosage: impact of gonadal function status.</strong> J. Med. Genet. 38: 1-6, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134233</a>] [<a href="https://doi.org/10.1136/jmg.38.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134233">Ogata et al. (2001)</a> also suggested that SHOX overdosage leads to long limbs and tall stature resulting from continued growth into late teens in individuals with gonadal dysgenesis. Thus, tall stature with poor pubertal development is suggestive of SHOX overdosage and may be ameliorated by estrogen therapy. <a href="#32" class="mim-tip-reference" title="Ogata, T., Matsuo, N., Nishimura, G. <strong>SHOX haploinsufficiency and overdosage: impact of gonadal function status.</strong> J. Med. Genet. 38: 1-6, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134233</a>] [<a href="https://doi.org/10.1136/jmg.38.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134233">Ogata et al. (2001)</a> concluded that studies to that time indicated that SHOX functions as a repressor of growth plate fusion and skeletal maturation in the distal limbs, counteracting the effects of estrogens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11134233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 140 children with idiopathic short stature, <a href="#6" class="mim-tip-reference" title="Binder, G., Ranke, M. B., Martin, D. D. <strong>Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.</strong> J. Clin. Endocr. Metab. 88: 4891-4896, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557470</a>] [<a href="https://doi.org/10.1210/jc.2003-030136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557470">Binder et al. (2003)</a> sought to determine the prevalence of SHOX mutations and to give an unbiased characterization of the haploinsufficiency phenotype of such children. SHOX haploinsufficiency caused by a SHOX deletion was confirmed in 3 probands (2%), all females, who carried a de novo deletion through loss of the paternal allele. Their auxologic data revealed a significant shortening of arms and legs in the presence of a low-normal sitting height when compared with the other 137 children tested. Therefore, the extremities-trunk ratio (sum of leg length and arm span, divided by sitting height) for total height was significantly lower in the 3 SHOX haploinsufficient probands in comparison with the whole group. All children with SHOX haploinsufficiency exhibited at least 1 characteristic radiologic sign of Leri-Weill dyschondrosteosis in their left-hand radiography, namely, triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius. <a href="#6" class="mim-tip-reference" title="Binder, G., Ranke, M. B., Martin, D. D. <strong>Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.</strong> J. Clin. Endocr. Metab. 88: 4891-4896, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557470</a>] [<a href="https://doi.org/10.1210/jc.2003-030136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557470">Binder et al. (2003)</a> concluded that it is rational to limit SHOX mutation screening to children with an extremities-trunk ratio less than 1.95 +/- 0.5 height (m) and to add a critical judgment of the hand radiography. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557470" 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>For the identification and characterization of SHOX deletions in 15 patients with Leri-Weill dyschondrosteosis, <a href="#17" class="mim-tip-reference" title="Gatta, V., Antonucci, I., Morizio, E., Palka, C., Fischetto, R., Mokini, V., Tumini, S., Calabrese, G., Stuppia, L. <strong>Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys (sic) by MLPA assay.</strong> J. Hum. Genet. 52: 21-27, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17091221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17091221</a>] [<a href="https://doi.org/10.1007/s10038-006-0074-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17091221">Gatta et al. (2007)</a> used multiple ligation probe amplification (MLPA) assay. Heterozygous deletion of SHOX was demonstrated in 7 patients, and 2 different proximal breakpoints were disclosed. In 3 of the patients who carried chromosome abnormalities, MLPA analysis identified the chromosomal rearrangement, showing, in addition to the SHOX deletions, the gain or loss of other genes mapped on the X and Y chromosomes. <a href="#17" class="mim-tip-reference" title="Gatta, V., Antonucci, I., Morizio, E., Palka, C., Fischetto, R., Mokini, V., Tumini, S., Calabrese, G., Stuppia, L. <strong>Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys (sic) by MLPA assay.</strong> J. Hum. Genet. 52: 21-27, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17091221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17091221</a>] [<a href="https://doi.org/10.1007/s10038-006-0074-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17091221">Gatta et al. (2007)</a> pointed out that the MLPA analysis can be carried out on a buccal swab, and that this technique represents a fast, simple, and high throughput approach in the screening of SHOX deletions. It may provide more information than FISH or microsatellite analysis of intragenic CA repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17091221" 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="#30" class="mim-tip-reference" title="Lisker, R., Gamboa, I., Hernandez, J. <strong>Dyschondrosteosis: a Mexican family with two affected males.</strong> Clin. Genet. 3: 154-157, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5054807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5054807</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1972.tb01452.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5054807">Lisker et al. (1972)</a> found a Mexican family with dyschondrosteosis informative for Rhesus and haptoglobin. However, no indication of close linkage was provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5054807" 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="#45" class="mim-tip-reference" title="Ventruto, V., Pisciotta, R., Renda, S., Fosta, B., Rinaldi, M. M., Stabile, M., Cavaliere, M. L., Esposito, M. <strong>Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).</strong> Am. J. Med. Genet. 16: 589-594, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6660251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6660251</a>] [<a href="https://doi.org/10.1002/ajmg.1320160416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6660251">Ventruto et al. (1983)</a> described a syndrome of skeletal dysplasia in 2 generations of a family. The affected persons had a balanced t(2;8)(q32;p23) translocation that was not found in 2 skeletally normal sibs. The affected persons were of normal intelligence. The proposita had short forearms with a short, bowed radius, cubitus valgus with limited motion at the elbows, fusion of C1 and C2 vertebrae, and other skeletal anomalies. Many of the features suggested dyschondrosteosis. Whatever the precise diagnosis, the findings implicated one of the breakpoints as causative (<a href="#21" class="mim-tip-reference" title="Hecht, F., Hecht, B. K. <strong>Linkage of skeletal dysplasia gene to t(2;8)(q32;p13) chromosome translocation breakpoint. (Letter)</strong> Am. J. Med. Genet. 18: 779-780, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6486174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6486174</a>] [<a href="https://doi.org/10.1002/ajmg.1320180425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6486174">Hecht and Hecht, 1984</a>). In a Thai family with an autosomal dominant skeletal dysplasia with similarities to dyschondrosteosis, referred to as the Kantaputra type of mesomelic dysplasia (MDK; <a href="/entry/156232">156232</a>), <a href="#16" class="mim-tip-reference" title="Fujimoto, M., Kantaputra, P. N., Ikegawa, S., Fukushima, Y., Sonta, S., Matsuo, M., Ishida, T., Matsumoto, T., Kondo, S., Tomita, H., Deng, H.-X., D'urso, M., Rinaldi, M. M., Ventruto, V., Takagi, T., Nakamura, Y., Niikawa, N. <strong>The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.</strong> J. Hum. Genet. 43: 32-36, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9609995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9609995</a>] [<a href="https://doi.org/10.1007/s100380050033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9609995">Fujimoto et al. (1998)</a> demonstrated linkage to markers in the 2q24-q32 region. They were prompted to study this region because of similarities of the phenotype in the Thai family to that in the family reported by <a href="#45" class="mim-tip-reference" title="Ventruto, V., Pisciotta, R., Renda, S., Fosta, B., Rinaldi, M. M., Stabile, M., Cavaliere, M. L., Esposito, M. <strong>Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).</strong> Am. J. Med. Genet. 16: 589-594, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6660251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6660251</a>] [<a href="https://doi.org/10.1002/ajmg.1320160416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6660251">Ventruto et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6486174+9609995+6660251" 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="#19" class="mim-tip-reference" title="Gokhale, D. A., Evans, D. G., Crowther, D., Woll, P., Watson, C. J., Dearden, S. P., Fergusson, W. D., Stevens, R. F., Taylor, G. M. <strong>Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis.</strong> Leukemia 9: 826-833, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7769845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7769845</a>]" pmid="7769845">Gokhale et al. (1995)</a> described a family in which 2 sisters with Leri-Weill dyschondrosteosis developed Hodgkin disease (<a href="/entry/236000">236000</a>) in late adolescence. Using HLA molecular typing, both sisters were found to have inherited a variant of the Hodgkin disease susceptibility allele, DPB1*0301, known as DPB1*2001. Because of the report by <a href="#45" class="mim-tip-reference" title="Ventruto, V., Pisciotta, R., Renda, S., Fosta, B., Rinaldi, M. M., Stabile, M., Cavaliere, M. L., Esposito, M. <strong>Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).</strong> Am. J. Med. Genet. 16: 589-594, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6660251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6660251</a>] [<a href="https://doi.org/10.1002/ajmg.1320160416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6660251">Ventruto et al. (1983)</a> of a constitutional balanced reciprocal translocation between chromosomes 2 and 8 in LWD, <a href="#19" class="mim-tip-reference" title="Gokhale, D. A., Evans, D. G., Crowther, D., Woll, P., Watson, C. J., Dearden, S. P., Fergusson, W. D., Stevens, R. F., Taylor, G. M. <strong>Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis.</strong> Leukemia 9: 826-833, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7769845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7769845</a>]" pmid="7769845">Gokhale et al. (1995)</a> conducted linkage studies of these 2 regions and excluded them as the site of the LWD gene in this family. A second cousin once removed of the 2 sisters developed Hodgkin disease at the age of 34 years; he apparently did not have LWD. The mother, the maternal grandmother, and her sister (the mother of the second cousin once removed), did have LWD. <a href="#19" class="mim-tip-reference" title="Gokhale, D. A., Evans, D. G., Crowther, D., Woll, P., Watson, C. J., Dearden, S. P., Fergusson, W. D., Stevens, R. F., Taylor, G. M. <strong>Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis.</strong> Leukemia 9: 826-833, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7769845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7769845</a>]" pmid="7769845">Gokhale et al. (1995)</a> suggested that the LWD gene may be a predisposing factor to Hodgkin disease, which was also contributed to by the HLA susceptibility allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7769845+6660251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Spitz, F., Montavon, T., Monso-Hinard, C., Morris, M., Ventruto, M.-L., Antonarakis, S., Ventruto, V., Duboule, D. <strong>A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.</strong> Genomics 79: 493-498, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11944980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11944980</a>] [<a href="https://doi.org/10.1006/geno.2002.6735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11944980">Spitz et al. (2002)</a> cloned and sequenced the breakpoints of the balanced translocation t(2;8)(q31;p21) reported by <a href="#45" class="mim-tip-reference" title="Ventruto, V., Pisciotta, R., Renda, S., Fosta, B., Rinaldi, M. M., Stabile, M., Cavaliere, M. L., Esposito, M. <strong>Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).</strong> Am. J. Med. Genet. 16: 589-594, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6660251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6660251</a>] [<a href="https://doi.org/10.1002/ajmg.1320160416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6660251">Ventruto et al. (1983)</a>. They found that no gene was disrupted, but the breakpoint occurred in close proximity to the HOXD gene cluster (see HOXD1; <a href="/entry/142987">142987</a>) on 2q31-q32. They pointed to other evidence that this cluster of genes has an important role in the development of both the vertebral column and the limbs. They presented radiographs from the family indicating shortened forearms with Madelung deformity and cubitus valgus with limited elbow motion. Hands and feet were normal. There was fusion between the first and second cervical vertebrae and a cleft in the vertebrae in the lumbosacral region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11944980+6660251" 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="#Carter1974" class="mim-tip-reference" title="Carter, A. R., Currey, H. L. F. <strong>Dyschondrosteosis (mesomelic dwarfism): a family study.</strong> Brit. J. Radiol. 47: 634-640, 1974.">Carter and Currey (1974)</a>; <a href="#Espiritu1975" class="mim-tip-reference" title="Espiritu, C., Chen, H., Woolley, P. V., Jr. <strong>Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.</strong> Am. J. Dis. Child. 129: 375-377, 1975.">Espiritu et al. (1975)</a>; <a href="#Fasanelli1983" class="mim-tip-reference" title="Fasanelli, S., Iannaccone, G., Bellussi, A. <strong>A possibly new form of familial bone dysplasia resembling dyschondrosteosis.</strong> Pediat. Radiol. 13: 25-31, 1983.">Fasanelli et al.
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(1983)</a>; <a href="#Felman1970" class="mim-tip-reference" title="Felman, A. H., Kirkpatrick, J. A., Jr. <strong>Dyschondrosteose: mesomelic dwarfism of Leri and Weill.</strong> Am. J. Dis. Child. 120: 329-331, 1970.">Felman and Kirkpatrick (1970)</a>; <a href="#Herdman1966" class="mim-tip-reference" title="Herdman, R. C., Langer, L. O., Jr., Good, R. A. <strong>Dyschondrosteosis, the most common cause of Madelung's deformity.</strong> J. Pediat. 68: 432-441, 1966.">Herdman et al. (1966)</a>; <a href="#Kunze1980" class="mim-tip-reference" title="Kunze, J., Klemm, T. <strong>Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.</strong> Europ. J. Pediat. 134: 269-272, 1980.">Kunze
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Anton, J. I., Reitz, G. B., Spiegel, M. B.
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<strong>Madelung's deformity.</strong>
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Ann. Surg. 108: 411-439, 1938.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17857243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17857243</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17857243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00000658-193809000-00006" target="_blank">Full Text</a>]
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Barca-Tierno, V., Aza-Carmona, M., Barroso, E., Heine-Suner, D., Azmanov, D., Rosell, J., Ezquieta, B., Montane, L. S., Vendrell, T., Cruz, J., Santos, F., Rodriguez, J. I., Pozo, J., Argente, J., Kalaydjieva, L., Gracia, R., Campos-Barros, A., Benito-Sanz, S., Heath, K. E.
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<strong>Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia.</strong>
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Europ. J. Hum. Genet. 19: 1218-1225, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21712857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21712857</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21712857[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21712857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2011.128" target="_blank">Full Text</a>]
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Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V.
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<strong>SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).</strong>
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Nature Genet. 19: 67-69, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9590292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0198-67" target="_blank">Full Text</a>]
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Benito-Sanz, S., Royo, J. L., Barroso, E., Paumard-Hernandez, B., Barreda-Bonis, A. C., Liu, P., Gracia, R., Lupski, J. R., Campos-Barros, A., Gomez-Skarmeta, J. L., Heath, K. E.
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<strong>Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.</strong>
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J. Med. Genet. 49: 442-450, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22791839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22791839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22791839" 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/jmedgenet-2011-100678" target="_blank">Full Text</a>]
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Benito-Sanz, S., Thomas, N. S., Huber, C., Gorbenko del Blanco, D., Aza-Carmona, M., Crolla, J. A., Maloney, V., Rappold, G., Argente, J., Campos-Barros, A., Cormier-Daire, V., Heath, K. E.
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<strong>A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16175500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16175500</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16175500[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16175500" 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/10.1086/449313" target="_blank">Full Text</a>]
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Binder, G., Ranke, M. B., Martin, D. D.
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<strong>Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.</strong>
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J. Clin. Endocr. Metab. 88: 4891-4896, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557470" 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/10.1302/0301-620X.64B3.7096409" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00975662" target="_blank">Full Text</a>]
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Spitz, F., Montavon, T., Monso-Hinard, C., Morris, M., Ventruto, M.-L., Antonarakis, S., Ventruto, V., Duboule, D.
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<strong>A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.</strong>
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Genomics 79: 493-498, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11944980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11944980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11944980" 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/10.1006/geno.2002.6735" target="_blank">Full Text</a>]
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Stuppia, L., Calabrese, G., Borrelli, P., Gatta, V., Morizio, E., Mingarelli, R., Di Gilio, M. C., Crino, A., Gianotti, A., Rappold, G. A., Palka, G.
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<strong>Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.</strong>
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J. Med. Genet. 36: 711-713, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507731</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Ventruto1983" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ventruto, V., Pisciotta, R., Renda, S., Fosta, B., Rinaldi, M. M., Stabile, M., Cavaliere, M. L., Esposito, M.
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<strong>Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).</strong>
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Am. J. Med. Genet. 16: 589-594, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6660251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6660251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6660251" 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.1320160416" target="_blank">Full Text</a>]
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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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Ada Hamosh - updated : 10/9/2013
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Marla J. F. O'Neill - updated : 1/10/2012<br>Marla J. F. O'Neill - updated : 1/14/2011<br>Cassandra L. Kniffin - updated : 10/15/2009<br>Victor A. McKusick - updated : 9/6/2007<br>Marla J. F. O'Neill - updated : 9/20/2005<br>John A. Phillips, III - updated : 9/24/2004<br>Victor A. McKusick - updated : 1/24/2003<br>John A. Phillips, III - updated : 7/1/2002<br>Victor A. McKusick - updated : 5/15/2002<br>Michael J. Wright - updated : 6/5/2001<br>Victor A. McKusick - updated : 9/13/2000<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 4/27/1998<br>Victor A. McKusick - updated : 4/6/1998<br>Victor A. McKusick - updated : 3/16/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 07/31/2019
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alopez : 08/04/2016<br>mcolton : 03/04/2015<br>alopez : 10/9/2013<br>carol : 9/30/2013<br>terry : 3/15/2013<br>terry : 3/15/2013<br>carol : 1/13/2012<br>terry : 1/10/2012<br>wwang : 2/14/2011<br>terry : 1/14/2011<br>terry : 1/13/2011<br>carol : 11/24/2010<br>carol : 11/12/2010<br>wwang : 11/12/2009<br>ckniffin : 10/15/2009<br>ckniffin : 10/15/2009<br>alopez : 9/6/2007<br>alopez : 10/6/2005<br>alopez : 10/6/2005<br>wwang : 9/26/2005<br>terry : 9/20/2005<br>alopez : 9/24/2004<br>cwells : 11/5/2003<br>carol : 1/24/2003<br>alopez : 7/1/2002<br>alopez : 5/16/2002<br>terry : 5/15/2002<br>alopez : 6/5/2001<br>carol : 9/22/2000<br>terry : 9/13/2000<br>alopez : 12/16/1999<br>alopez : 12/16/1999<br>carol : 11/15/1999<br>carol : 11/1/1999<br>carol : 11/1/1999<br>carol : 11/1/1999<br>carol : 10/26/1999<br>terry : 4/22/1999<br>alopez : 4/28/1998<br>terry : 4/27/1998<br>carol : 4/18/1998<br>terry : 4/6/1998<br>alopez : 3/16/1998<br>terry : 2/25/1998<br>carol : 12/14/1994<br>mimadm : 6/25/1994<br>carol : 7/22/1993<br>carol : 1/4/1993<br>carol : 12/16/1992<br>carol : 11/16/1992
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<span class="mim-font">
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<strong>#</strong> 127300
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<h3>
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LERI-WEILL DYSCHONDROSTEOSIS; LWD
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<em>Alternative titles; symbols</em>
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DYSCHONDROSTEOSIS; DCO
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Other entities represented in this entry:
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<span class="h3 mim-font">
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MADELUNG DEFORMITY, INCLUDED
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<strong>SNOMEDCT:</strong> 17818006;
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<strong>ORPHA:</strong> 240;
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<strong>DO:</strong> 0060847;
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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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Xp22.33
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<span class="mim-font">
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Leri-Weill dyschondrosteosis
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<span class="mim-font">
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127300
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<span class="mim-font">
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Pseudoautosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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SHOX
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<span class="mim-font">
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312865
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<span class="mim-font">
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Yp11.2
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<span class="mim-font">
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Leri-Weill dyschondrosteosis
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<span class="mim-font">
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127300
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<span class="mim-font">
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Pseudoautosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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SHOXY
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</td>
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<span class="mim-font">
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400020
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Leri-Weill dyschondrosteosis (LWD) is caused by heterozygous defects in the pseudoautosomal genes SHOX (312865) or SHOXY (400020) or by deletion of the SHOX downstream regulatory domain.</p><p>Because the mutation occurs in the pseudoautosomal region of the sex chromosomes, the inheritance of this disorder follows an autosomal (pseudoautosomal) dominant pattern.</p>
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<strong>Description</strong>
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<p>Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965). </p><p>See also Langer mesomelic dysplasia (LMD; 249700), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>The disorder was first described by Leri and Weill (1929). Lamy and Bienenfeld (1954) described affected mother and son. The fibula was absent in both.</p><p>Langer (1965) reported 3 families. The deformity of the forearm consists of bowing of the radius and dorsal dislocation of the distal ulna, resulting in limited motion at the elbow and wrist. Rullier et al. (1968) observed dyschondrosteosis in mother and 2 daughters. Nassif and Harboyan (1970) described 2 brothers with Leri dyschondrosteosis, who also had middle ear deformities and conductive hearing loss. Three sisters had the skeletal deformity with normal hearing. </p><p>Dawe et al. (1982) reviewed 13 patients with dyschondrosteosis from 8 families. Stature was moderately reduced due to shortening of the bones of the leg. Radioulnar shortening could involve either both bones equally or the radius predominantly, in which case a typical Madelung deformity was seen. Tibiofibular disproportion was present in half the patients, 2 of them having severe deformity associated with tibia varum and a long fibula. The authors recommended that patients with dyschondrosteosis be kept under surveillance during the growing period, since problems in the limbs, especially the legs, may require operations to equalize the length of the 2 bones. </p><p>Ross et al. (2001) studied 21 LWD families (43 affected LWD subjects, including 32 females and 11 males, aged 3 to 56 years) with confirmed SHOX gene abnormalities. In the LWD subjects, height deficits ranged from -4.6 to +0.6 SD (mean +/- SD = -2.2 +/- 1.0). There were no statistically significant effects on age, gender, pubertal status, or parental origin of SHOX mutations on height z-score. The height deficit in LWD was approximately two-thirds that of Turner syndrome. Madelung deformity was present in 74% of LWD children and adults and was more frequent and severe in females than males. The prevalence of Madelung deformity was higher in the LWD versus a Turner syndrome population. The prevalence of increased carrying angle, high-arched palate, and scoliosis was similar in the 2 populations. SHOX deletions were present in affected individuals from 17 families (81%), and point mutations were detected in 4 families (19%). </p><p>Among 34 prepubertal genetically confirmed patients with LWD (ages 1 to 10), including 20 girls and 14 boys, Ross et al. (2005) found a decreased height SD score (SDS) compared to controls for both sexes (-2.3 for girls and -1.8 for boys). Arm spans were also decreased (SDS -3.2 for girls and -2.3 for boys), indicating early development of mesomelia in the arms. Tibial bowing was seen in 8 (40%) of 20 girls and 4 (29%) of 14 boys. Wrist changes related to Madelung deformity were present in 18 (53%) of 34 LWD individuals. Bone age was not significantly decreased in either girls or boys. A separate comparison of 24 girls with LWD aged 1 to 15 years and 76 girls with Turner syndrome showed similar mean height deficits (SDS -2.7 for both groups). This suggested that SHOX haploinsufficiency is responsible for most of the height deficit observed in Turner syndrome. There was evidence for mesomelia in the LWD group, which was not present in the Turner group. Overall, Madelung deformity, increased carrying angle, tibial bowing, and scoliosis were more prevalent in the LWD population, whereas high arched-palate was similarly prevalent in both LWD and Turner syndrome. Ross et al. (2005) concluded that short stature is common in both LWD girls and boys before puberty, and Turner syndrome girls. Clinical clues to the diagnosis of SHOX haploinsufficiency in childhood thus include short stature, short limbs, wrist changes, and tibial bowing. None of the patients had been treated with growth hormone, and some of the patients had previously been reported (Ross et al., 2001). </p><p><strong><em>Madelung Deformity</em></strong></p><p>
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A complete review of Madelung deformity was provided by Anton et al. (1938). Langer (1965) suggested that most of all cases of Madelung deformity indicate dyschondrosteosis. In a review, however, Felman and Kirkpatrick (1969) concluded that patients taller than the 25th percentile for height probably do not have dyschondrosteosis, that a hereditary entity of Madelung deformity distinct from dyschondrosteosis exists, that patients with the isolated Madelung deformity may be short, and that marked shortening of the tibia relative to the femur suggests dyschondrosteosis. </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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</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>Goepp et al. (1978) traced LWS through 5 generations and observed male-to-male transmission in 14 instances. In all, 34 persons were affected.</p><p>Lichtenstein et al. (1980) reported male-to-male transmission. They commented that females showed dyschondrosteosis and Madelung deformity; males showed only the latter. Dawe et al. (1982) reviewed 13 patients with dyschondrosteosis from 8 families and concluded that inheritance is likely to be autosomal dominant, but with only 50% penetrance. Jackson (1985) traced this disorder through 6 generations of a family, with 39 affected persons and 12 instances of male-to-male transmission. Several members belied the impression that females are always more severely affected than males. He suggested that the disorder is more frequent than generally realized and that an abnormally low ratio of forearm to upper arm length may be a valuable diagnostic clue. </p><p>Fryns and Van den Berghe (1979) presented a male newborn with the typical Langer type of mesomelic dwarfism (249700). The finding of a variable degree of Madelung deformity and mesomelic shortening in both parents and in the maternal family supported the hypothesis that this type of mesomelic dwarfism may be the clinical manifestation of a homozygous state for dyschondrosteosis. </p><p>Roubicek et al. (2003) suggested that since the SHOX gene is located in the pseudoautosomal region of the sex chromosomes, the correct term for the type of hereditary transmission of the associated phenotype should be a 'pseudoautosomal dominant,' 'sex chromosomal dominant,' or 'gonosomal dominant' form of mesomelic dysplasia. They stated that the genetics literature should be corrected accordingly. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</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>Leri-Weill dyschondrosteosis can be defined genetically by haploinsufficiency of the SHOX gene. Belin et al. (1998) and Shears et al. (1998) showed that Leri-Weill dyschondrosteosis is linked to DNA markers in the pseudoautosomal region (PAR1) on the X and Y chromosomes. In patients with the disorder, mutations were identified in the SHOX gene (312865.0002-312865.0003). Belin et al. (1998) demonstrated homozygous absence of the SHOX gene in a fetus with Langer-type mesomelic dysplasia (249700), which had previously been postulated to be the homozygous form of Leri-Weill dyschondrosteosis. </p><p>Grigelioniene et al. (2000) performed mutation analysis of the coding region of the SHOX gene in 5 LWD patients and identified 3 novel mutations (312865.0004-312865.0006), including 2 missense mutations. </p><p>Huber et al. (2001) studied 8 families with dyschondrosteosis and found point mutations in the SHOX gene in 5 families and deletions in 3 (see, e.g., 312865.0007). Combined with the results of their previous work (Belin et al., 1998), 10 of 16 families with this phenotype had deletions of the SHOX gene, while 6 of 16 had point mutations. </p><p>Ross et al. (2003) studied 2 children with combined genetic skeletal disorders. A brother and sister with LWD due to heterozygosity for deletion in the SHOX gene and possible heterozygosity for another SHOX mutation were married to, respectively, a woman with achondroplasia due to the G380R mutation in FGFR3 (134934.0001) and a man with hypochondroplasia due to the N540K mutation in the FGFR3 gene (134934.0010). All 4 of their children had LWD. The woman had a son who was heterozygous for the SHOX deletion and a daughter who was a double heterozygote for the SHOX deletion and the N540K achondroplasia mutation. This child had both mesomelic and rhizomelic short stature. The man had a daughter who was a double heterozygote for the hypochondroplasia G380R mutation and a presumed mutation in the SHOX gene. She likewise had both mesomelic and rhizomelic short stature. </p><p>In affected individuals with LWD or LMD from 12 Spanish multiplex families, 2 of which had previously been studied (Sabherwal et al. (2004, 2004)), Barca-Tierno et al. (2011) identified heterozygosity or homozygosity, respectively, for an A170P mutation (312865.0014) in the SHOX gene. In all families, A170P cosegregated with the fully penetrant phenotype of mesomelic limb shortening and Madelung deformity. Microsatellite analysis revealed a shared haplotype around SHOX, confirming the presence of a common ancestor, probably of Gypsy origin, as 11 of the 12 families were of that ethnic group. Another mutation at the same location, A170D (312865.0015), was identified in 2 unrelated non-Gypsy Spanish families with LWD. </p><p><strong><em>Deletions of the SHOX Downstream Regulatory Domain</em></strong></p><p>
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Sabherwal et al. (2007) analyzed the DNA of 122 patients with clinical manifestations of LWD, and identified an intragenic mutation in 17 and deletion of the entire gene in 47; further screening identified 4 families with an intact SHOX coding region who had microdeletions in the 3-prime pseudoautosomal region, with a common deletion interval of approximately 200 kb that segregated with disease in each family. Comparative genetic analysis revealed 8 highly conserved noncoding DNA elements (CNE2 to CNE9) within this interval, located between 48 and 215 kb downstream of the SHOX gene, and functional analysis showed that CNE4, CNE5, and CNE9 had cis-regulatory activity in the developing limbs of chicken embryos. Sabherwal et al. (2007) stated that their findings indicated that the deleted region in the affected families contains several distinct elements that regulate SHOX expression in the developing limb, and noted that deletion of these elements in humans with both SHOX genes intact generates a phenotype apparently indistinguishable from that of patients with mutations in the SHOX coding region. </p><p>Chen et al. (2009) analyzed copy number variation in the pseudoautosomal region of the sex chromosomes in 735 individuals with idiopathic short stature (ISS) and in 58 patients with Leri-Weill syndrome. They identified 31 microdeletions in the pseudoautosomal region in ISS patients, 8 of which involved only enhancer CNEs (CNE7, CNE8, and CNE9) residing at least 150 kb centromeric to the SHOX gene. In the Leri-Weill patients, 29 microdeletions were identified, 13 of which involved CNEs and left the SHOX gene intact. These deletions were not found in 100 controls. Chen et al. (2009) concluded that enhancer deletions in the SHOX downstream region are a relatively frequent cause of growth failure in patients with idiopathic short stature and Leri-Weill syndrome. </p><p>Benito-Sanz et al. (2012) identified a recurrent 47.5-kb deletion in the pseudoautosomal region 1 (PAR1) downstream of the SHOX gene (312865.0016) in 19 of 124 probands with Leri-Weill dyschondrosteosis (15.3%) and 11 of 576 probands with idiopathic short stature (300582) (1.9%). The deletion did not include any of the SHOX enhancer elements known at that time. Conservation analysis of the deleted region followed by chromosome conformation capture and luciferase reporter assays demonstrated the presence of an evolutionarily conserved region (ECR1) that acted as a novel orientation- and position-independent SHOX enhancer. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>Calabrese et al. (1999) described an X/Y translocation as the apparent basis of Leri-Weill dyschondrosteosis in a boy and his mother. FISH analysis with specific probes for SHOX and SRY (480000) displayed no signal on the derivative X, while one signal for SHOX was detected on the normal X chromosome in the mother and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband. The boy was first evaluated at the age of 7 years because of skeletal dysplasia. He showed short lower limbs. Radiologic studies showed enlargement of the ulna and radius and bowing of the knees. One year later, bowing of the radius and distal ulnar dislocation was found. The 34-year-old mother had short stature (150 cm), bowing of the radius, and bilateral subluxation of the distal ulna. </p><p>Stuppia et al. (1999) reported a phenotypically male child with a 45,X karyotype who had dyschondrosteosis. FISH analysis with SHOX and SRY probes detected hemizygosity for SHOX and the presence of SRY on Xp. Molecular analysis suggested that the 45,X karyotype arose as a result of unequal crossing-over at paternal meiosis, translocating SRY onto Xp, and a separate event at maternal meiosis or in the early stages of zygote formation leading to the loss of the maternal X chromosome. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Schiller et al. (2000) studied 32 patients with Leri-Weill dyschondrosteosis from 18 different German and Dutch families and presented clinical, radiologic, and molecular data. Phenotypic manifestations were generally more severe in females. In males, muscular hypertrophy was a frequent finding. The authors identified submicroscopic deletions encompassing the SHOX gene in 10 of 18 families investigated; deletion sizes varied between 100 kb and 9 Mb and did not correlate with the severity of the phenotype. Schiller et al. (2000) did not detect SHOX mutations in almost half (41%) of the LWD families studied. </p><p>Benito-Sanz et al. (2005) identified 12 LWD patients who presented with a novel class of PAR1 deletions that did not include the SHOX gene. No apparent phenotypic differences were observed between patients with SHOX deletions and those with this new class of PAR1 deletions. The findings indicated the presence of distal regulatory elements of SHOX transcription in PAR1 or, alternatively, the existence of an additional locus apparently involved in the control of skeletal development. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Ogata et al. (2001) reviewed the clinical features and diagnostic and therapeutic implications of SHOX haploinsufficiency and overdosage. They suggested that identification of Madelung deformity is important in the clinical diagnosis of SHOX haploinsufficiency and that gonadal suppression therapy may mitigate the clinical features, including mesomelic short stature. Ogata et al. (2001) also suggested that SHOX overdosage leads to long limbs and tall stature resulting from continued growth into late teens in individuals with gonadal dysgenesis. Thus, tall stature with poor pubertal development is suggestive of SHOX overdosage and may be ameliorated by estrogen therapy. Ogata et al. (2001) concluded that studies to that time indicated that SHOX functions as a repressor of growth plate fusion and skeletal maturation in the distal limbs, counteracting the effects of estrogens. </p><p>In a study of 140 children with idiopathic short stature, Binder et al. (2003) sought to determine the prevalence of SHOX mutations and to give an unbiased characterization of the haploinsufficiency phenotype of such children. SHOX haploinsufficiency caused by a SHOX deletion was confirmed in 3 probands (2%), all females, who carried a de novo deletion through loss of the paternal allele. Their auxologic data revealed a significant shortening of arms and legs in the presence of a low-normal sitting height when compared with the other 137 children tested. Therefore, the extremities-trunk ratio (sum of leg length and arm span, divided by sitting height) for total height was significantly lower in the 3 SHOX haploinsufficient probands in comparison with the whole group. All children with SHOX haploinsufficiency exhibited at least 1 characteristic radiologic sign of Leri-Weill dyschondrosteosis in their left-hand radiography, namely, triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius. Binder et al. (2003) concluded that it is rational to limit SHOX mutation screening to children with an extremities-trunk ratio less than 1.95 +/- 0.5 height (m) and to add a critical judgment of the hand radiography. </p><p>For the identification and characterization of SHOX deletions in 15 patients with Leri-Weill dyschondrosteosis, Gatta et al. (2007) used multiple ligation probe amplification (MLPA) assay. Heterozygous deletion of SHOX was demonstrated in 7 patients, and 2 different proximal breakpoints were disclosed. In 3 of the patients who carried chromosome abnormalities, MLPA analysis identified the chromosomal rearrangement, showing, in addition to the SHOX deletions, the gain or loss of other genes mapped on the X and Y chromosomes. Gatta et al. (2007) pointed out that the MLPA analysis can be carried out on a buccal swab, and that this technique represents a fast, simple, and high throughput approach in the screening of SHOX deletions. It may provide more information than FISH or microsatellite analysis of intragenic CA repeats. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Exclusion Mapping</em></strong></p><p>
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Lisker et al. (1972) found a Mexican family with dyschondrosteosis informative for Rhesus and haptoglobin. However, no indication of close linkage was provided. </p><p>Ventruto et al. (1983) described a syndrome of skeletal dysplasia in 2 generations of a family. The affected persons had a balanced t(2;8)(q32;p23) translocation that was not found in 2 skeletally normal sibs. The affected persons were of normal intelligence. The proposita had short forearms with a short, bowed radius, cubitus valgus with limited motion at the elbows, fusion of C1 and C2 vertebrae, and other skeletal anomalies. Many of the features suggested dyschondrosteosis. Whatever the precise diagnosis, the findings implicated one of the breakpoints as causative (Hecht and Hecht, 1984). In a Thai family with an autosomal dominant skeletal dysplasia with similarities to dyschondrosteosis, referred to as the Kantaputra type of mesomelic dysplasia (MDK; 156232), Fujimoto et al. (1998) demonstrated linkage to markers in the 2q24-q32 region. They were prompted to study this region because of similarities of the phenotype in the Thai family to that in the family reported by Ventruto et al. (1983). </p><p>Gokhale et al. (1995) described a family in which 2 sisters with Leri-Weill dyschondrosteosis developed Hodgkin disease (236000) in late adolescence. Using HLA molecular typing, both sisters were found to have inherited a variant of the Hodgkin disease susceptibility allele, DPB1*0301, known as DPB1*2001. Because of the report by Ventruto et al. (1983) of a constitutional balanced reciprocal translocation between chromosomes 2 and 8 in LWD, Gokhale et al. (1995) conducted linkage studies of these 2 regions and excluded them as the site of the LWD gene in this family. A second cousin once removed of the 2 sisters developed Hodgkin disease at the age of 34 years; he apparently did not have LWD. The mother, the maternal grandmother, and her sister (the mother of the second cousin once removed), did have LWD. Gokhale et al. (1995) suggested that the LWD gene may be a predisposing factor to Hodgkin disease, which was also contributed to by the HLA susceptibility allele. </p><p>Spitz et al. (2002) cloned and sequenced the breakpoints of the balanced translocation t(2;8)(q31;p21) reported by Ventruto et al. (1983). They found that no gene was disrupted, but the breakpoint occurred in close proximity to the HOXD gene cluster (see HOXD1; 142987) on 2q31-q32. They pointed to other evidence that this cluster of genes has an important role in the development of both the vertebral column and the limbs. They presented radiographs from the family indicating shortened forearms with Madelung deformity and cubitus valgus with limited elbow motion. Hands and feet were normal. There was fusion between the first and second cervical vertebrae and a cleft in the vertebrae in the lumbosacral region. </p>
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</span>
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<div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Carter and Currey (1974); Espiritu et al. (1975); Fasanelli et al.
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(1983); Felman and Kirkpatrick (1970); Herdman et al. (1966); Kunze
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and Klemm (1980)
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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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Anton, J. I., Reitz, G. B., Spiegel, M. B.
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<strong>Madelung's deformity.</strong>
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Ann. Surg. 108: 411-439, 1938.
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[PubMed: 17857243]
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[Full Text: https://doi.org/10.1097/00000658-193809000-00006]
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Barca-Tierno, V., Aza-Carmona, M., Barroso, E., Heine-Suner, D., Azmanov, D., Rosell, J., Ezquieta, B., Montane, L. S., Vendrell, T., Cruz, J., Santos, F., Rodriguez, J. I., Pozo, J., Argente, J., Kalaydjieva, L., Gracia, R., Campos-Barros, A., Benito-Sanz, S., Heath, K. E.
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<strong>Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia.</strong>
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Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V.
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Benito-Sanz, S., Royo, J. L., Barroso, E., Paumard-Hernandez, B., Barreda-Bonis, A. C., Liu, P., Gracia, R., Lupski, J. R., Campos-Barros, A., Gomez-Skarmeta, J. L., Heath, K. E.
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<strong>Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.</strong>
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Benito-Sanz, S., Thomas, N. S., Huber, C., Gorbenko del Blanco, D., Aza-Carmona, M., Crolla, J. A., Maloney, V., Rappold, G., Argente, J., Campos-Barros, A., Cormier-Daire, V., Heath, K. E.
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<strong>A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.</strong>
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Am. J. Hum. Genet. 77: 533-544, 2005. Note: Erratum: Am. J. Hum. Genet. 77: 1131 only, 2005.
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Binder, G., Ranke, M. B., Martin, D. D.
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<strong>Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.</strong>
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J. Clin. Endocr. Metab. 88: 4891-4896, 2003.
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[PubMed: 14557470]
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[Full Text: https://doi.org/10.1210/jc.2003-030136]
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Calabrese, G., Fischetto, R., Stuppia, L., Capodiferro, F., Mingarelli, R., Causio, F., Rocchi, M., Rappold, G. A., Palka, G.
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<strong>X/Y translocation in a family with Leri-Weill dyschondrosteosis.</strong>
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Hum. Genet. 105: 367-368, 1999.
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Carter, A. R., Currey, H. L. F.
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<strong>Dyschondrosteosis (mesomelic dwarfism): a family study.</strong>
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Brit. J. Radiol. 47: 634-640, 1974.
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[PubMed: 4433973]
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<p class="mim-text-font">
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Chen, J., Wildhardt, G., Zhong, Z., Roth, R., Weiss, B., Steinberger, D., Decker, J., Blum, W. F., Rappold, G.
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<strong>Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory region.</strong>
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J. Med. Genet. 46: 834-839, 2009.
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[PubMed: 19578035]
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[Full Text: https://doi.org/10.1136/jmg.2009.067785]
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<p class="mim-text-font">
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Dawe, C., Wynne-Davies, R., Fulford, G. E.
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<strong>Clinical variation in dyschondrosteosis: a report on 13 individuals in 8 families.</strong>
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J. Bone Joint Surg. Br. 64: 377-381, 1982.
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[PubMed: 7096409]
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[Full Text: https://doi.org/10.1302/0301-620X.64B3.7096409]
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<p class="mim-text-font">
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Espiritu, C., Chen, H., Woolley, P. V., Jr.
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<strong>Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.</strong>
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Am. J. Dis. Child. 129: 375-377, 1975.
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[PubMed: 1121969]
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<p class="mim-text-font">
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Fasanelli, S., Iannaccone, G., Bellussi, A.
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<strong>A possibly new form of familial bone dysplasia resembling dyschondrosteosis.</strong>
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Ada Hamosh - updated : 10/9/2013<br>Marla J. F. O'Neill - updated : 1/10/2012<br>Marla J. F. O'Neill - updated : 1/14/2011<br>Cassandra L. Kniffin - updated : 10/15/2009<br>Victor A. McKusick - updated : 9/6/2007<br>Marla J. F. O'Neill - updated : 9/20/2005<br>John A. Phillips, III - updated : 9/24/2004<br>Victor A. McKusick - updated : 1/24/2003<br>John A. Phillips, III - updated : 7/1/2002<br>Victor A. McKusick - updated : 5/15/2002<br>Michael J. Wright - updated : 6/5/2001<br>Victor A. McKusick - updated : 9/13/2000<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 4/27/1998<br>Victor A. McKusick - updated : 4/6/1998<br>Victor A. McKusick - updated : 3/16/1998
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Victor A. McKusick : 6/4/1986
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