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Entry
- #150230 - TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
- OMIM
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<span class="h4">#150230</span>
<br />
<strong>Table of Contents</strong>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/150230"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS190350"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=TRICHORHINOPHALANGEAL SYNDROME, TYPE II" 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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</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:150230" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 41069008<br />
<strong>ORPHA:</strong> 502<br />
<strong>DO:</strong> 4998<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
150230
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
LANGER-GIEDION SYNDROME; LGS<br />
CHROMOSOME 8q24.1 DELETION SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="cytogeneticLocation" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/8/499?start=-3&limit=10&highlight=499">8q24.11-q24.13</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:116700001-126300000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">8:116,700,001-126,300,000</a> </span>
</em>
</strong>
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<a id="geneMap" class="mim-anchor"></a>
<div style="margin-bottom: 10px;">
<span class="h4 mim-font">
<strong>Gene-Phenotype Relationships</strong>
</span>
</div>
<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>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="1">
<span class="mim-font">
<a href="/geneMap/8/499?start=-3&limit=10&highlight=499">
8q24.11-q24.13
</a>
</span>
</td>
<td>
<span class="mim-font">
Trichorhinophalangeal syndrome, type II
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150230"> 150230 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved">4</abbr>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/150230" 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>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS190350" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<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/150230" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/150230" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Postnatal onset of mild growth retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001530</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001530</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br /> -
Large protruding ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835581</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Deep-set eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246923005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eye,Deeply_Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Exotropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399252000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399252000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399054005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399054005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bulbous nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Bulbous-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Broad nasal bridge <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849367</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Wide-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Tented, thickened alae nasi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835582</a>]</span><br /> -
Prominent philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839797&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839797</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002002</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002002</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=02d740f0400c0ba4b43a2532cfbf67e5" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Deep-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=02d740f0400c0ba4b43a2532cfbf67e5&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Airways </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Recurrent upper respiratory tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195708003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195708003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581381&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581381</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Rib exostoses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835579</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000896" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000896</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000896" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000896</a>]</span><br /> -
Scapulae exostoses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851415&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851415</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000918" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000918</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000918" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000918</a>]</span><br /> -
Winged scapulae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ureters </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hydrometrocolpos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60023006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60023006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0269209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0269209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030010</a>]</span><br /> -
Ureteral reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</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">
- Multiple exostoses of long tubular bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005039</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005039</a>]</span><br /> -
Perthes-like femoral head changes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111255008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111255008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M91.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M91.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1442965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1442965</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005743</a>]</span><br /> -
Predisposition to fracture <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835585&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835585</a>]</span><br /> -
Hyperextensible joints <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cone-shaped epiphyses of phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574949&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574949</a>, <a href="https://bioportal.bioontology.org/search?q=C1859480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010230</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034281</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034281</a>]</span><br /> -
Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Redundant skin in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835587&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835587</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007595" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007595</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007595" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007595</a>]</span><br /> -
Nevi <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51697005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51697005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027960</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003764</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003764</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nails </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Brittle nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69192004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69192004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546956</a>, <a href="https://bioportal.bioontology.org/search?q=C5779504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779504</a>, <a href="https://bioportal.bioontology.org/search?q=C1856963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030804</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001808</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sparse scalp hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857042&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857042</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002209</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0794250547c51da4a5a0f6e06193a00b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Scalp_Hair,Sparse-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0794250547c51da4a5a0f6e06193a00b&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Delayed speech development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Chromosome deletion extending from 8q24.11 to 8q24.13 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835586&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835586</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Majority of cases sporadic<br /> -
Male predominance<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- A contiguous gene syndrome caused by loss of functional copies of zinc finger transcription factor TRPS1 (TRPS1, <a href="/entry/604386">604386</a>) and exostosin glycosyltransferase 1 (EXT1, <a href="/entry/608177">608177</a>)<br />
</span>
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</div>
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<div class="small">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Trichorhinophalangeal syndrome
- <a href="/phenotypicSeries/PS190350">PS190350</a>
- 3 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/489?start=-3&limit=10&highlight=489"> 8q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190350"> Trichorhinophalangeal syndrome, type I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190350"> 190350 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604386"> TRPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604386"> 604386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/489?start=-3&limit=10&highlight=489"> 8q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190351"> Trichorhinophalangeal syndrome, type III </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190351"> 190351 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604386"> TRPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604386"> 604386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/499?start=-3&limit=10&highlight=499"> 8q24.11-q24.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150230"> Trichorhinophalangeal syndrome, type II </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150230"> 150230 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150230"> TRPS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150230"> 150230 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<p>A number sign (#) is used with this entry because trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is a contiguous gene syndrome on 8q24.1, involving loss of functional copies of the TRPS1 (<a href="/entry/604386">604386</a>) and EXT1 (<a href="/entry/608177">608177</a>) genes.</p><p>TRPS type II combines the clinical features of trichorhinophalangeal syndrome type I (<a href="/entry/190350">190350</a>) and multiple exostoses type I (<a href="/entry/133700">133700</a>), which are caused by mutations in the TRPS1 and EXT1 genes, respectively.</p><p>See also Cornelia de Lange syndrome-4 (CDLS4; <a href="/entry/614701">614701</a>), caused by mutation in the RAD21 gene (<a href="/entry/606462">606462</a>), which lies on 8q24 between TRPS1 and EXT1.</p>
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<p>Trichorhinophalangeal syndrome type II (TRPS2), or Langer-Giedion syndrome (LGS), is a contiguous gene deletion syndrome characterized by cone-shaped epiphyses, multiple cartilaginous exostoses, and facial dysmorphism including bulbous nose, elongated upper lip with flat philtrum, and large protruding ears. Scalp hair is usually sparse, with thin and brittle hair shafts. Intellectual development is mildly to moderately impaired. Seizures have occasionally been reported. Other skeletal or orthopedic, urogenital, and endocrine anomalies may be present (summary by <a href="#38" class="mim-tip-reference" title="Schinzel, A., Riegel, M., Baumer, A., Superti-Furga, A., Moreira, L. M. A., Santo, L. D. E., Schiper, P. P., Dantas Carvalho, J. H., Giedion, A. &lt;strong&gt;Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.&lt;/strong&gt; Am. J. Med. Genet. 161A: 2216-2225, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23913778/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23913778&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36062&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23913778">Schinzel et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913778" 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="#17" class="mim-tip-reference" title="Hall, B. D., Langer, L. O., Jr., Giedion, A., Smith, D. W., Cohen, M. M., Beals, R. K., Brandner, M. &lt;strong&gt;Langer-Giedion syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. X(12): 147-164, 1974."None>Hall et al. (1974)</a> described a condition that they called the Langer-Giedion syndrome in which affected individuals had multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. <a href="#20" class="mim-tip-reference" title="Kozlowski, K., Harrington, G., Barylak, A., Bartoszewica, B. &lt;strong&gt;Multiple exostoses-mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome): description of two childhood cases.&lt;/strong&gt; Clin. Pediat. 16: 219-224, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/300047/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;300047&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/000992287701600302&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="300047">Kozlowski et al. (1977)</a> reported 2 unrelated patients, a girl and a boy, and suggested that the condition may have been described by <a href="#1" class="mim-tip-reference" title="Ale, G., Calo, S. &lt;strong&gt;On a case of peripheral dysostosis associated with multiple osteogenic exostoses, dysuniform and dysharmonic hyposomnia.&lt;/strong&gt; Ann. Radiol. Diag. (Bologna) 34: 376-385, 1961."None>Ale and Calo (1961)</a>. <a href="#30" class="mim-tip-reference" title="Murachi, S., Nogami, H., Oki, T., Ogino, T. &lt;strong&gt;Familial tricho-rhino-phalangeal syndrome type II.&lt;/strong&gt; Clin. Genet. 19: 149-155, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6974063/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6974063&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1981.tb00688.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6974063">Murachi et al. (1981)</a> described affected father and daughter, suggesting autosomal dominant inheritance. The father was mildly mentally retarded. They noted previous reports of 9 cases, all sporadic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6974063+300047" 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="#21" class="mim-tip-reference" title="Langer, L. O., Jr., Krassikoff, N., Laxova, R., Scheer-Williams, M., Lutter, L. D., Gorlin, R. J., Jennings, C. G., Day, D. W. &lt;strong&gt;The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 19: 81-111, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6496574/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6496574&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320190110&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6496574">Langer et al. (1984)</a> described in detail 4 patients who were not mentally retarded, but who did have mental impairment. Delayed speech development and hearing loss were noted as features. They pointed out that most reported cases had been sporadic. They suggested that the term 'tricho-rhino-phalangeal syndrome with exostoses' be used. They also provided a detailed clinical review of 32 previously reported cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6496574" 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="Brenholz, P., Swayne, L., Twersky, S., Arbeitel, B., Singer, N. &lt;strong&gt;Dominant inheritance of the Langer-Giedion syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A41 only, 1989."None>Brenholz et al. (1989)</a> reported LGS in 2 brothers whose mother appeared to have been affected. The maternal grandmother and a maternal first cousin may have been affected.</p><p><a href="#13" class="mim-tip-reference" title="Fryns, J. P., Heremans, G., Marien, J., Van den Berghe, H. &lt;strong&gt;Langer-Giedion syndrome and deletion of the long arm of chromosome 8: confirmation of the critical segment to 8q23.&lt;/strong&gt; Hum. Genet. 64: 194-195, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6885060/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6885060&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00327126&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6885060">Fryns et al. (1983)</a> and <a href="#34" class="mim-tip-reference" title="Partington, M. W., Rae, J., Payne, M. J. &lt;strong&gt;Haematometra in the Langer-Giedion syndrome. (Letter)&lt;/strong&gt; J. Med. Genet. 28: 644-645, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1956070/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1956070&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.9.644-b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1956070">Partington et al. (1991)</a> described hydrometrocolpos and hematometra as complications of this syndrome. <a href="#20" class="mim-tip-reference" title="Kozlowski, K., Harrington, G., Barylak, A., Bartoszewica, B. &lt;strong&gt;Multiple exostoses-mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome): description of two childhood cases.&lt;/strong&gt; Clin. Pediat. 16: 219-224, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/300047/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;300047&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/000992287701600302&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="300047">Kozlowski et al. (1977)</a> and <a href="#34" class="mim-tip-reference" title="Partington, M. W., Rae, J., Payne, M. J. &lt;strong&gt;Haematometra in the Langer-Giedion syndrome. (Letter)&lt;/strong&gt; J. Med. Genet. 28: 644-645, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1956070/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1956070&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.9.644-b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1956070">Partington et al. (1991)</a> described ureteral reflux requiring reimplantation of the ureters in the bladder. In a patient with Langer-Giedion syndrome and interstitial 8q deletion, <a href="#36" class="mim-tip-reference" title="Ramos, F. J., McDonald-McGinn, D. M., Emanuel, B. S., Zackai, E. H. &lt;strong&gt;Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.&lt;/strong&gt; Am. J. Med. Genet. 44: 790-794, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1481848/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1481848&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440614&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1481848">Ramos et al. (1992)</a> found persistent cloaca and the prune belly sequence (<a href="/entry/100100">100100</a>). <a href="#28" class="mim-tip-reference" title="Morioka, D., Suse, T., Shimizu, Y., Ohkubo, F., Hosaka, Y. &lt;strong&gt;Langer-Giedion syndrome associated with submucous cleft palate.&lt;/strong&gt; Plast. Reconstr. Surg. 103: 1458-1463, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10190443/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10190443&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00006534-199904050-00015&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10190443">Morioka et al. (1999)</a> described a patient with Langer-Giedion syndrome associated with submucous cleft palate. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10190443+6885060+1956070+1481848+300047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#40" class="mim-tip-reference" title="Stevens, C. A., Moore, C. A. &lt;strong&gt;Tibial hemimelia in Langer-Giedion syndrome--possible gene location for tibial hemimelia at 8q.&lt;/strong&gt; Am. J. Med. Genet. 85: 409-412, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10398269/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10398269&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990806)85:4&lt;409::aid-ajmg19&gt;3.0.co;2-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10398269">Stevens and Moore (1999)</a> described a girl with Langer-Giedion syndrome with deletion of 8q and the unusual findings of bilateral tibial hemimelia (<a href="/entry/275220">275220</a>) and unilateral absence of the ulna. <a href="#42" class="mim-tip-reference" title="Turleau, C., Chavin-Colin, F., de Grouchy, J., Maroteaux, P., Rivera, H. &lt;strong&gt;Langer-Giedion syndrome with and without del 8q: assignment of critical segment to 8q23.&lt;/strong&gt; Hum. Genet. 62: 183-187, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6984841/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6984841&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00333515&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6984841">Turleau et al. (1982)</a> had reported an 8-year-old boy with LGS and bilateral tibial hemimelia. Although no genes involving limb development in the human had been identified in the 8q24.1 critical LGS region, 2 mouse syndromes that involve limb abnormalities mapped to the homologous chromosome region, 9A1-A4: 'luxoid' (absent toes, radial and tibial hemimelia, preaxial polydactyly, bent tail, and oligospermia) and 'aft' (abnormal feet and tail). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6984841+10398269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Riedl, S., Giedion, A., Schweitzer, K., Mullner-Eidenbock, A., Grill, F., Frisch, H., Ludecke, H.-J. &lt;strong&gt;Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.&lt;/strong&gt; Am. J. Med. Genet. 131A: 200-203, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15523607/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15523607&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30374&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15523607">Riedl et al. (2004)</a> described a girl with TRPS II and growth hormone deficiency (see <a href="/entry/262400">262400</a>) causing pronounced short stature (-4.8 SD). The patient had an interstitial deletion at 8q24.1 of 12 to 15 Mb. The deletion spanned all genes from CSMD3 (<a href="/entry/608399">608399</a>) to at least ANXA13 (<a href="/entry/602573">602573</a>), including the TRPS1 (<a href="/entry/604386">604386</a>) and EXT1 (<a href="/entry/608177">608177</a>) genes. Growth hormone deficiency was indicated by diminished response in 3 stimulation tests and a striking response to growth hormone therapy. This was apparently the first observation of combined TRPS II and growth hormone deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15523607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Schinzel, A., Riegel, M., Baumer, A., Superti-Furga, A., Moreira, L. M. A., Santo, L. D. E., Schiper, P. P., Dantas Carvalho, J. H., Giedion, A. &lt;strong&gt;Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.&lt;/strong&gt; Am. J. Med. Genet. 161A: 2216-2225, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23913778/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23913778&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36062&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23913778">Schinzel et al. (2013)</a> reported follow-up of 4 persons with TRPS2 into adulthood and reviewed the limited available literature on adults with TRPS2. Most patients had borderline or mild cognitive impairment, with a few with normal intelligence; patients with TRPS2 performed better in practical skills than their academic achievement would suggest. Some patients developed seizures at variable ages. Scoliosis was most often mild. Exostoses typically did not progress further after puberty, and in some patients, became less prominent. However, serious complications related to cervical spinal exostoses, including stroke and spinal cord compression, were occasionally reported. No cases with malignant transformation of exostoses were identified, although the number of patients followed was too low to define malignancy risk. Almost all males lost their hair at or soon after puberty, and some developed gynecomastia. Growth hormone deficiency was infrequently observed. Serious complications related to the eye, ear, and heart were rare. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913778" 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="#8" class="mim-tip-reference" title="Buhler, E. M., Buhler, U. K., Stalder, G. R., Jani, L., Jurik, L. P. &lt;strong&gt;Chromosome deletion and multiple cartilaginous exostoses.&lt;/strong&gt; Europ. J. Pediat. 133: 163-166, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6965910/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6965910&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441586&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6965910">Buhler et al. (1980)</a> reported the case of a teenage girl with features suggestive of Langer-Giedion syndrome associated with terminal deletion of 8q: the band q24 was missing from one chromosome 8. <a href="#35" class="mim-tip-reference" title="Pfeiffer, R. A. &lt;strong&gt;Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8: 46,XY,del8(q13-22).&lt;/strong&gt; Clin. Genet. 18: 142-146, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6254701/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6254701&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1980.tb01025.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6254701">Pfeiffer (1980)</a> described deletion of a segment (q13-22) of the long arm of chromosome 8 in a mentally retarded boy with Langer-Giedion syndrome. Additional features included colobomata of the iris and defect of the fourth and fifth fingers. <a href="#44" class="mim-tip-reference" title="Wilson, W. G., Shah, H., Wyandt, H. E. &lt;strong&gt;Interstitial deletion of 8q in a patient with multiple exostoses and developmental delay. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 33: 96A only, 1981."None>Wilson et al. (1981)</a> found interstitial deletion of 8q22.8-q24.1 in a 17-year-old patient with multiple exostoses and developmental delay. Exostoses were first apparent at age 4 years. The patient lacked the typical nose and coned epiphyses of the Langer-Giedion syndrome. <a href="#16" class="mim-tip-reference" title="Gorlin, R. J., Cervenka, J., Bloom, B. A., Langer, L. O., Jr. &lt;strong&gt;No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 13: 345-347, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6983832/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6983832&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320130322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6983832">Gorlin et al. (1982)</a> found normal chromosomes on prophase banding in 2 patients. <a href="#42" class="mim-tip-reference" title="Turleau, C., Chavin-Colin, F., de Grouchy, J., Maroteaux, P., Rivera, H. &lt;strong&gt;Langer-Giedion syndrome with and without del 8q: assignment of critical segment to 8q23.&lt;/strong&gt; Hum. Genet. 62: 183-187, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6984841/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6984841&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00333515&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6984841">Turleau et al. (1982)</a> concluded that 8q23 is the 'critical segment,' not 8q22. <a href="#47" class="mim-tip-reference" title="Zaletajev, D. V., Marincheva, G. S. &lt;strong&gt;Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.&lt;/strong&gt; Hum. Genet. 63: 178-182, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6840761/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6840761&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00291541&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6840761">Zaletajev and Marincheva (1983)</a> attributed LGS in their patient to interstitial deletion of 8q22. <a href="#3" class="mim-tip-reference" title="Bowen, P., Biederman, B., Hoo, J. J. &lt;strong&gt;The critical segment for the Langer-Giedion syndrome: 8q24.11-q24.12.&lt;/strong&gt; Ann. Genet. 28: 224-227, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3879433/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3879433&lt;/a&gt;]" pmid="3879433">Bowen et al. (1985)</a> described an 18-year-old intellectually normal male with LGS and a small deletion of bands 8q24.11-q24.12. In addition, he had an apparently balanced de novo translocation (2;9)(q21;q13). Neither abnormality was found in the parents. The risk of LGS in any child of the proband would presumably be 50%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6984841+6983832+6254701+3879433+6840761+6965910" 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="#31" class="mim-tip-reference" title="Okuno, T., Inoue, A., Asakura, T., Nakao, S. &lt;strong&gt;Langer-Giedion syndrome with del8(q24.13-q24.22).&lt;/strong&gt; Clin. Genet. 32: 40-45, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3502694/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3502694&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb03321.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3502694">Okuno et al. (1987)</a> described a typical case with interstitial deletion of 8q24.13-q24.22. <a href="#46" class="mim-tip-reference" title="Zaletaev, D. V., Kuleshov, N. P., Lur&#x27;e, I. V., Marincheva, G. S. &lt;strong&gt;Langer-Giedion syndrome and chromosome 8 long arm deletion.&lt;/strong&gt; Sov. Genet. 23: 629-633, 1987."None>Zaletaev et al. (1987)</a> found deletion in 8q in 3 unrelated patients with LGS. The 'critical' region was identified as 8q24.11-q24.13. The findings of <a href="#11" class="mim-tip-reference" title="Fennell, S. J., Benson, J. W. T., Kindley, A. D., Schwarz, M. J., Czepulkowski, B. &lt;strong&gt;Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.&lt;/strong&gt; J. Med. Genet. 26: 167-171, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2651669/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2651669&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.26.3.167&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2651669">Fennell et al. (1989)</a> likewise supported the view that the critical segment for LGS is proximal to or involves a proximal part of 8q24.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3502694+2651669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In reviewing 12 cases from the literature, <a href="#9" class="mim-tip-reference" title="Buhler, E. M., Malik, N. J. &lt;strong&gt;The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 19: 113-119, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6496563/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6496563&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320190111&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6496563">Buhler and Malik (1984)</a> suggested that the shortest region of overlap of the 8q deletion is in band 8q24.1. They raised the question of whether type I trichorhinophalangeal syndrome may be caused by mutation at the same locus or region. Supporting this suggestion was the description of TRPS I with probable deletion in the same region of 8q (<a href="#18" class="mim-tip-reference" title="Hamers, A., Jongbloet, P., Peeters, G., Geraedts, J. &lt;strong&gt;Microcytogenetics of chromosome 8q. (Abstract)&lt;/strong&gt; 8th International Chromosome Conference, Lubeck, W. Germany 1983. Note: Abstract 8."None>Hamers et al., 1983</a>) and appreciation that the presence or absence of exostoses may be the other 'symptom' that distinguishes types I and II. The fact that the multiple exostoses of LGS are indistinguishable in radiographic features and natural history from those of the long-recognized autosomal dominant disorder 'multiple hereditary exostoses' (see EXT, <a href="/entry/133700">133700</a>) suggested that a locus for EXT was situated on 8q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6496563" 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="Brocas, H., Buhler, E. M., Simon, P., Malik, N. J., Vassart, G. &lt;strong&gt;Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.&lt;/strong&gt; Hum. Genet. 74: 178-180, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2876948/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2876948&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00282087&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2876948">Brocas et al. (1986)</a> showed that the thyroglobulin locus, located at 8q24, is intact in LGS. This confirmed the distal location previously defined for LGS and assigned the critical region for the disorder to the proximal part of band 8q24 (8q24.11-q24.13). <a href="#6" class="mim-tip-reference" title="Buhler, E. M., Buhler, U. K., Beutler, C., Fessler, R. &lt;strong&gt;A final word on the tricho-rhino-phalangeal syndromes.&lt;/strong&gt; Clin. Genet. 31: 273-275, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3594935/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3594935&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb02806.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3594935">Buhler et al. (1987)</a> concluded that the Langer-Giedion syndrome is due to a deletion extending from 8q24.11 to 8q24.13, whereas TRPS I is caused by an even smaller deleted segment, namely, 8q24.12. They described a case of TRPS I with a mosaic deletion of that band. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3594935+2876948" 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="Ludecke, H.-J., Burdiek, R., Senger, G., Claussen, U., Passarge, E., Horsthemke, B. &lt;strong&gt;Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.&lt;/strong&gt; Hum. Genet. 82: 327-329, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2567694/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2567694&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00273991&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2567694">Ludecke et al. (1989)</a> found 2 RFLPs in an anonymous DNA probe that defined the D8S48 locus within the Langer-Giedion syndrome chromosome region. Both polymorphisms were informative in the family of a Langer-Giedion patient carrying a de novo interstitial deletion 8q23-q24.1. Lack of transmission of a maternal haplotype indicated that the deletion occurred during maternal gametogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2567694" 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="#26" class="mim-tip-reference" title="Ludecke, H.-J., Senger, G., Claussen, U., Horsthemke, B. &lt;strong&gt;Molecular approach to the Langer-Giedion syndrome chromosome region. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 51: 1035 only, 1989."None>Ludecke et al. (1989)</a> described the microdissection of the Langer-Giedion syndrome region on chromosome 8 from GTG-banded metaphase chromosomes (G-banding with trypsin-Giemsa) and the universal enzymatic amplification of the dissected DNA. Eighty percent of clones from this library (total yield 20,000) identified single-copy DNA sequences. Half of the clones detected deletions in 2 patients with LGS. Ten of the clones were assigned to the deleted region in Langer-Giedion syndrome (8q23.2-q24.11) based on Southern blot analysis of DNA from 2 patients. The results of <a href="#26" class="mim-tip-reference" title="Ludecke, H.-J., Senger, G., Claussen, U., Horsthemke, B. &lt;strong&gt;Molecular approach to the Langer-Giedion syndrome chromosome region. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 51: 1035 only, 1989."None>Ludecke et al. (1989)</a> demonstrated that thousands of region-specific probes can be isolated in a short period of time. Microdissection and microcloning have been applied successfully to various chromosome regions in Drosophila and mouse, but conventional microtechniques are too coarse and inefficient, especially on unbanded chromosomes, for analysis of the human genome. <a href="#24" class="mim-tip-reference" title="Ludecke, H.-J., Johnson, C., Wagner, M. J., Wells, D. E., Turleau, C., Tommerup, N., Latos-Bielenska, A., Sandig, K.-R., Meinecke, P., Zabel, B., Horsthemke, B. &lt;strong&gt;Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 49: 1197-1206, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1836105/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1836105&lt;/a&gt;]" pmid="1836105">Ludecke et al. (1991)</a> used 13 anonymous DNA markers from an 8q24.1-specific microdissection library, as well as MYC (<a href="/entry/190080">190080</a>) and TG (<a href="/entry/188450">188450</a>) gene probes, to map the deletion breakpoints in 16 patients with LGS. Twelve patients had a cytogenetically visible deletion, 2 had an apparently balanced translocation, and 2 had an apparently normal karyotype. In all cases except 1 translocation patient, loss of genetic material was detected. The DNA markers fell into 10 deletion intervals. Clone L48 (D8S51) defined the shortest region of deletion overlap, which was estimated to be less than 2 Mb. The clones that flanked the shortest region of deletion overlap recognized evolutionarily conserved sequences. <a href="#33" class="mim-tip-reference" title="Parrish, J. E., Wagner, M. J., Hecht, J. T., Scott, C. I., Jr., Wells, D. E. &lt;strong&gt;Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome.&lt;/strong&gt; Genomics 11: 54-61, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1684953/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1684953&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(91)90101-j&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1684953">Parrish et al. (1991)</a> isolated 8 DNA clones that were found to lie within the deletion of at least 1 of 3 patients with LGS. One clone identified sequences that were missing from 1 copy of chromosome 8 in all 3 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1684953+1836105" 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 id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>Using YAC cloning, Southern blotting, PCR analysis, and fluorescence in situ hybridization in the study of chromosome 8 deletions, translocations, an inversion, and an insertion in patients with TRPS I, Langer-Giedion syndrome, or multiple exostoses type I, <a href="#27" class="mim-tip-reference" title="Ludecke, H.-J., Wagner, M. J., Nardmann, J., La Pillo, B., Parrish, J. E., Willems, P. J., Haan, E. A., Frydman, M., Hamers, G. J. H., Wells, D. E., Horsthemke, B. &lt;strong&gt;Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.&lt;/strong&gt; Hum. Molec. Genet. 4: 31-36, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7711731/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7711731&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.1.31&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7711731">Ludecke et al. (1995)</a> obtained information indicating that the TRPS1 gene (<a href="/entry/604386">604386</a>) maps more than 1,000 kb proximal to the EXT1 gene and that both genes are affected in Langer-Giedion syndrome. They concluded that the Langer-Giedion syndrome is not due to pleiotropic effects of mutations in a single gene, but that it is a true contiguous gene syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711731" 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="Hou, J., Parrish, J., Ludecke, H.-J., Sapru, M., Wang, Y., Chen, W., Hill, A., Siegel-Bartelt, J., Northrup, H., Elder, F. F. B., Chinault, C., Horsthemke, B., Wagner, M. J., Wells, D. E. &lt;strong&gt;A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).&lt;/strong&gt; Genomics 29: 87-97, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8530105/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8530105&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1995.1218&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8530105">Hou et al. (1995)</a> constructed a physical map covering 4 Mb of 8q24.1 and used this map to refine the location of the genes responsible for LGS. The map was composed of overlapping YAC clones that were identified and ordered in relation to sequence tagged sites mapped to the Langer-Giedion chromosomal region on somatic cell hybrids. The minimal region of overlap of LGS deletions, previously identified by analysis of 15 patients, was placed on the map by analysis of 2 patients whose deletions defined the end points. The chromosome 8 breakpoint of a balanced t(8;9)(q24.1;q33.3) translocation from a patient with TRPS I was found to be located just within the proximal end of the minimal deletion region. A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and providing further support for the hypothesis that LGS is due to loss of functional copies of both the TRPS1 and the EXT1 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530105" 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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<strong>See Also:</strong>
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<a href="#Beighle1977" class="mim-tip-reference" title="Beighle, C., Karp, L. E., Hanson, J. W., Hall, J. G., Hoehn, H. &lt;strong&gt;Small structural changes of chromosome 8.&lt;/strong&gt; Hum. Genet. 38: 113-121, 1977.">Beighle et al. (1977)</a>; <a href="#Buhler1983" class="mim-tip-reference" title="Buhler, E. M., Buhler, U. K., Christen, R. &lt;strong&gt;Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?&lt;/strong&gt; Hum. Genet. 64: 163-166, 1983.">Buhler et al. (1983)</a>; <a href="#Buhler1982" class="mim-tip-reference" title="Buhler, E. M. &lt;strong&gt;Langer-Giedion syndrome and 8q- deletion. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 11: 359 only, 1982.">Buhler (1982)</a>; <a href="#Fryns1980" class="mim-tip-reference" title="Fryns, J. P., Emmery, L., Timmermans, J., Pedersen, J. C., van den Berghe, H. &lt;strong&gt;Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5-year-old boy.&lt;/strong&gt; J. Genet. Hum. 28: 53-56, 1980.">Fryns et
al. (1980)</a>; <a href="#Fukushima1983" class="mim-tip-reference" title="Fukushima, Y., Kuroki, Y., Izawa, T. &lt;strong&gt;Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13).&lt;/strong&gt; Hum. Genet. 64: 90-93, 1983.">Fukushima et al. (1983)</a>; <a href="#Giedion1969" class="mim-tip-reference" title="Giedion, A. &lt;strong&gt;Die periphere Dysostose (pD)--ein Sammelbegriff.&lt;/strong&gt; Fortschr. Roentgenstr. 110: 507-534, 1969.">Giedion (1969)</a>; <a href="#Langer1969" class="mim-tip-reference" title="Langer, L. O., Jr. &lt;strong&gt;The thoracic-pelvic-phalangeal dystrophy.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(4): 55-64, 1969.">Langer (1969)</a>; <a href="#Ludecke1989" class="mim-tip-reference" title="Ludecke, H.-J., Senger, G., Claussen, U., Horsthemke, B. &lt;strong&gt;Molecular approach to the Langer-Giedion syndrome chromosome region. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 51: 1035 only, 1989.">Ludecke et al. (1989)</a>; <a href="#Murachi1979" class="mim-tip-reference" title="Murachi, S., Itoh, H., Sugiura, Y. &lt;strong&gt;Tricho-rhino-phalangeal syndrome type II: the Langer-Giedion syndrome.&lt;/strong&gt; Jpn. J. Hum. Genet. 24: 27-36, 1979.">Murachi et al. (1979)</a>; <a href="#Oorthuys1979" class="mim-tip-reference" title="Oorthuys, J. W. E., Beemer, F. A. &lt;strong&gt;The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).&lt;/strong&gt; Europ. J. Pediat. 132: 55-59, 1979.">Oorthuys and Beemer
(1979)</a>; <a href="#Shabtai1985" class="mim-tip-reference" title="Shabtai, F., Sandowski, U., Nissimov, R., Klar, D., Halbrecht, I. &lt;strong&gt;Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23-q21.1).&lt;/strong&gt; Clin. Genet. 27: 600-605, 1985.">Shabtai et al. (1985)</a>; <a href="#Stoltzfus1977" class="mim-tip-reference" title="Stoltzfus, E., Ladda, R. L., Lloyd-Still, J. D. &lt;strong&gt;Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.&lt;/strong&gt; J. Pediat. 91: 277-280, 1977.">Stoltzfus et al. (1977)</a>; <a href="#Wilson1979" class="mim-tip-reference" title="Wilson, W. G., Herrington, R. T., Aylsworth, A. S. &lt;strong&gt;The Langer-Giedion syndrome: report of a 22-year-old woman.&lt;/strong&gt; Pediatrics 64: 542-545, 1979.">Wilson et al.
(1979)</a>; <a href="#Zabel1982" class="mim-tip-reference" title="Zabel, B. U., Baumann, W. A. &lt;strong&gt;Langer-Giedion syndrome with interstitial 8q- deletion.&lt;/strong&gt; Am. J. Med. Genet. 11: 353-358, 1982.">Zabel and Baumann (1982)</a>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Ale1961" class="mim-anchor"></a>
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<p class="mim-text-font">
Ale, G., Calo, S.
<strong>On a case of peripheral dysostosis associated with multiple osteogenic exostoses, dysuniform and dysharmonic hyposomnia.</strong>
Ann. Radiol. Diag. (Bologna) 34: 376-385, 1961.
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<a id="2" class="mim-anchor"></a>
<a id="Beighle1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beighle, C., Karp, L. E., Hanson, J. W., Hall, J. G., Hoehn, H.
<strong>Small structural changes of chromosome 8.</strong>
Hum. Genet. 38: 113-121, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/903151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">903151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=903151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00295814" target="_blank">Full Text</a>]
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<a id="Bowen1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bowen, P., Biederman, B., Hoo, J. J.
<strong>The critical segment for the Langer-Giedion syndrome: 8q24.11-q24.12.</strong>
Ann. Genet. 28: 224-227, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3879433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3879433</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3879433" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Brenholz1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brenholz, P., Swayne, L., Twersky, S., Arbeitel, B., Singer, N.
<strong>Dominant inheritance of the Langer-Giedion syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A41 only, 1989.
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<a id="Brocas1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brocas, H., Buhler, E. M., Simon, P., Malik, N. J., Vassart, G.
<strong>Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.</strong>
Hum. Genet. 74: 178-180, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2876948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2876948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2876948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00282087" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Buhler1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Buhler, E. M., Buhler, U. K., Beutler, C., Fessler, R.
<strong>A final word on the tricho-rhino-phalangeal syndromes.</strong>
Clin. Genet. 31: 273-275, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3594935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3594935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3594935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1987.tb02806.x" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
<a id="Buhler1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Buhler, E. M., Buhler, U. K., Christen, R.
<strong>Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?</strong>
Hum. Genet. 64: 163-166, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6885052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6885052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6885052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00327117" target="_blank">Full Text</a>]
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<a id="Buhler1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Buhler, E. M., Buhler, U. K., Stalder, G. R., Jani, L., Jurik, L. P.
<strong>Chromosome deletion and multiple cartilaginous exostoses.</strong>
Europ. J. Pediat. 133: 163-166, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6965910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6965910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6965910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00441586" target="_blank">Full Text</a>]
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<a id="Buhler1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Buhler, E. M., Malik, N. J.
<strong>The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? (Editorial)</strong>
Am. J. Med. Genet. 19: 113-119, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6496563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6496563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6496563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320190111" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Buhler1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Buhler, E. M.
<strong>Langer-Giedion syndrome and 8q- deletion. (Editorial)</strong>
Am. J. Med. Genet. 11: 359 only, 1982.
</p>
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<li>
<a id="11" class="mim-anchor"></a>
<a id="Fennell1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fennell, S. J., Benson, J. W. T., Kindley, A. D., Schwarz, M. J., Czepulkowski, B.
<strong>Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.</strong>
J. Med. Genet. 26: 167-171, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2651669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2651669</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2651669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.26.3.167" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Fryns1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P., Emmery, L., Timmermans, J., Pedersen, J. C., van den Berghe, H.
<strong>Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5-year-old boy.</strong>
J. Genet. Hum. 28: 53-56, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7400785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7400785</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7400785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Fryns1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P., Heremans, G., Marien, J., Van den Berghe, H.
<strong>Langer-Giedion syndrome and deletion of the long arm of chromosome 8: confirmation of the critical segment to 8q23.</strong>
Hum. Genet. 64: 194-195, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6885060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6885060</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6885060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00327126" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Fukushima1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fukushima, Y., Kuroki, Y., Izawa, T.
<strong>Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13).</strong>
Hum. Genet. 64: 90-93, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6336324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6336324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6336324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00289486" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
<a id="Giedion1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Giedion, A.
<strong>Die periphere Dysostose (pD)--ein Sammelbegriff.</strong>
Fortschr. Roentgenstr. 110: 507-534, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5307918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5307918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5307918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Gorlin1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gorlin, R. J., Cervenka, J., Bloom, B. A., Langer, L. O., Jr.
<strong>No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome. (Letter)</strong>
Am. J. Med. Genet. 13: 345-347, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6983832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6983832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6983832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320130322" target="_blank">Full Text</a>]
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<a id="Hall1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hall, B. D., Langer, L. O., Jr., Giedion, A., Smith, D. W., Cohen, M. M., Beals, R. K., Brandner, M.
<strong>Langer-Giedion syndrome.</strong>
Birth Defects Orig. Art. Ser. X(12): 147-164, 1974.
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<a id="Hamers1983" class="mim-anchor"></a>
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Hamers, A., Jongbloet, P., Peeters, G., Geraedts, J.
<strong>Microcytogenetics of chromosome 8q. (Abstract)</strong>
8th International Chromosome Conference, Lubeck, W. Germany 1983. Note: Abstract 8.
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<a id="Hou1995" class="mim-anchor"></a>
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<p class="mim-text-font">
Hou, J., Parrish, J., Ludecke, H.-J., Sapru, M., Wang, Y., Chen, W., Hill, A., Siegel-Bartelt, J., Northrup, H., Elder, F. F. B., Chinault, C., Horsthemke, B., Wagner, M. J., Wells, D. E.
<strong>A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).</strong>
Genomics 29: 87-97, 1995.
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[<a href="https://doi.org/10.1006/geno.1995.1218" target="_blank">Full Text</a>]
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<a id="Kozlowski1977" class="mim-anchor"></a>
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Kozlowski, K., Harrington, G., Barylak, A., Bartoszewica, B.
<strong>Multiple exostoses-mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome): description of two childhood cases.</strong>
Clin. Pediat. 16: 219-224, 1977.
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[<a href="https://doi.org/10.1177/000992287701600302" target="_blank">Full Text</a>]
</p>
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<a id="21" class="mim-anchor"></a>
<a id="Langer1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Langer, L. O., Jr., Krassikoff, N., Laxova, R., Scheer-Williams, M., Lutter, L. D., Gorlin, R. J., Jennings, C. G., Day, D. W.
<strong>The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.</strong>
Am. J. Med. Genet. 19: 81-111, 1984.
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[<a href="https://doi.org/10.1002/ajmg.1320190110" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
<a id="Langer1969" class="mim-anchor"></a>
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<p class="mim-text-font">
Langer, L. O., Jr.
<strong>The thoracic-pelvic-phalangeal dystrophy.</strong>
Birth Defects Orig. Art. Ser. V(4): 55-64, 1969.
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<a id="Ludecke1989" class="mim-anchor"></a>
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Ludecke, H.-J., Burdiek, R., Senger, G., Claussen, U., Passarge, E., Horsthemke, B.
<strong>Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.</strong>
Hum. Genet. 82: 327-329, 1989.
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[<a href="https://doi.org/10.1007/BF00273991" target="_blank">Full Text</a>]
</p>
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<a id="24" class="mim-anchor"></a>
<a id="Ludecke1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ludecke, H.-J., Johnson, C., Wagner, M. J., Wells, D. E., Turleau, C., Tommerup, N., Latos-Bielenska, A., Sandig, K.-R., Meinecke, P., Zabel, B., Horsthemke, B.
<strong>Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.</strong>
Am. J. Hum. Genet. 49: 1197-1206, 1991.
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</p>
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<a id="25" class="mim-anchor"></a>
<a id="Ludecke1989" class="mim-anchor"></a>
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Ludecke, H.-J., Senger, G., Claussen, U., Horsthemke, B.
<strong>Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification.</strong>
Nature 338: 348-350, 1989.
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[<a href="https://doi.org/10.1038/338348a0" target="_blank">Full Text</a>]
</p>
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<a id="26" class="mim-anchor"></a>
<a id="Ludecke1989" class="mim-anchor"></a>
<div class="">
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Ludecke, H.-J., Senger, G., Claussen, U., Horsthemke, B.
<strong>Molecular approach to the Langer-Giedion syndrome chromosome region. (Abstract)</strong>
Cytogenet. Cell Genet. 51: 1035 only, 1989.
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<p class="mim-text-font">
Ludecke, H.-J., Wagner, M. J., Nardmann, J., La Pillo, B., Parrish, J. E., Willems, P. J., Haan, E. A., Frydman, M., Hamers, G. J. H., Wells, D. E., Horsthemke, B.
<strong>Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.</strong>
Hum. Molec. Genet. 4: 31-36, 1995.
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[<a href="https://doi.org/10.1093/hmg/4.1.31" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
<a id="Morioka1999" class="mim-anchor"></a>
<div class="">
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Morioka, D., Suse, T., Shimizu, Y., Ohkubo, F., Hosaka, Y.
<strong>Langer-Giedion syndrome associated with submucous cleft palate.</strong>
Plast. Reconstr. Surg. 103: 1458-1463, 1999.
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[<a href="https://doi.org/10.1097/00006534-199904050-00015" target="_blank">Full Text</a>]
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Murachi, S., Itoh, H., Sugiura, Y.
<strong>Tricho-rhino-phalangeal syndrome type II: the Langer-Giedion syndrome.</strong>
Jpn. J. Hum. Genet. 24: 27-36, 1979.
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Murachi, S., Nogami, H., Oki, T., Ogino, T.
<strong>Familial tricho-rhino-phalangeal syndrome type II.</strong>
Clin. Genet. 19: 149-155, 1981.
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[<a href="https://doi.org/10.1111/j.1399-0004.1981.tb00688.x" target="_blank">Full Text</a>]
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<a id="Okuno1987" class="mim-anchor"></a>
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Okuno, T., Inoue, A., Asakura, T., Nakao, S.
<strong>Langer-Giedion syndrome with del8(q24.13-q24.22).</strong>
Clin. Genet. 32: 40-45, 1987.
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[<a href="https://doi.org/10.1111/j.1399-0004.1987.tb03321.x" target="_blank">Full Text</a>]
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<a id="Oorthuys1979" class="mim-anchor"></a>
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<p class="mim-text-font">
Oorthuys, J. W. E., Beemer, F. A.
<strong>The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).</strong>
Europ. J. Pediat. 132: 55-59, 1979.
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[<a href="https://doi.org/10.1007/BF00443205" target="_blank">Full Text</a>]
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<a id="Parrish1991" class="mim-anchor"></a>
<div class="">
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Parrish, J. E., Wagner, M. J., Hecht, J. T., Scott, C. I., Jr., Wells, D. E.
<strong>Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome.</strong>
Genomics 11: 54-61, 1991.
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[<a href="https://doi.org/10.1016/0888-7543(91)90101-j" target="_blank">Full Text</a>]
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<a id="Partington1991" class="mim-anchor"></a>
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Partington, M. W., Rae, J., Payne, M. J.
<strong>Haematometra in the Langer-Giedion syndrome. (Letter)</strong>
J. Med. Genet. 28: 644-645, 1991.
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[<a href="https://doi.org/10.1136/jmg.28.9.644-b" target="_blank">Full Text</a>]
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Pfeiffer, R. A.
<strong>Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8: 46,XY,del8(q13-22).</strong>
Clin. Genet. 18: 142-146, 1980.
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[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb01025.x" target="_blank">Full Text</a>]
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<a id="Ramos1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Ramos, F. J., McDonald-McGinn, D. M., Emanuel, B. S., Zackai, E. H.
<strong>Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.</strong>
Am. J. Med. Genet. 44: 790-794, 1992.
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[<a href="https://doi.org/10.1002/ajmg.1320440614" target="_blank">Full Text</a>]
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<a id="Riedl2004" class="mim-anchor"></a>
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Riedl, S., Giedion, A., Schweitzer, K., Mullner-Eidenbock, A., Grill, F., Frisch, H., Ludecke, H.-J.
<strong>Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.</strong>
Am. J. Med. Genet. 131A: 200-203, 2004.
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[<a href="https://doi.org/10.1002/ajmg.a.30374" target="_blank">Full Text</a>]
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<a id="Schinzel2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schinzel, A., Riegel, M., Baumer, A., Superti-Furga, A., Moreira, L. M. A., Santo, L. D. E., Schiper, P. P., Dantas Carvalho, J. H., Giedion, A.
<strong>Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.36062" target="_blank">Full Text</a>]
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<a id="Shabtai1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shabtai, F., Sandowski, U., Nissimov, R., Klar, D., Halbrecht, I.
<strong>Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23-q21.1).</strong>
Clin. Genet. 27: 600-605, 1985.
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[<a href="https://doi.org/10.1111/j.1399-0004.1985.tb02045.x" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Stevens, C. A., Moore, C. A.
<strong>Tibial hemimelia in Langer-Giedion syndrome--possible gene location for tibial hemimelia at 8q.</strong>
Am. J. Med. Genet. 85: 409-412, 1999.
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990806)85:4&lt;409::aid-ajmg19&gt;3.0.co;2-6" target="_blank">Full Text</a>]
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<a id="Stoltzfus1977" class="mim-anchor"></a>
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<p class="mim-text-font">
Stoltzfus, E., Ladda, R. L., Lloyd-Still, J. D.
<strong>Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.</strong>
J. Pediat. 91: 277-280, 1977.
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[<a href="https://doi.org/10.1016/s0022-3476(77)80832-9" target="_blank">Full Text</a>]
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<a id="Turleau1982" class="mim-anchor"></a>
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Turleau, C., Chavin-Colin, F., de Grouchy, J., Maroteaux, P., Rivera, H.
<strong>Langer-Giedion syndrome with and without del 8q: assignment of critical segment to 8q23.</strong>
Hum. Genet. 62: 183-187, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6984841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6984841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6984841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00333515" target="_blank">Full Text</a>]
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<a id="Wilson1979" class="mim-anchor"></a>
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Wilson, W. G., Herrington, R. T., Aylsworth, A. S.
<strong>The Langer-Giedion syndrome: report of a 22-year-old woman.</strong>
Pediatrics 64: 542-545, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/315049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">315049</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=315049" 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="Wilson1981" class="mim-anchor"></a>
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Wilson, W. G., Shah, H., Wyandt, H. E.
<strong>Interstitial deletion of 8q in a patient with multiple exostoses and developmental delay. (Abstract)</strong>
Am. J. Hum. Genet. 33: 96A only, 1981.
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<a id="Zabel1982" class="mim-anchor"></a>
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Zabel, B. U., Baumann, W. A.
<strong>Langer-Giedion syndrome with interstitial 8q- deletion.</strong>
Am. J. Med. Genet. 11: 353-358, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7081298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7081298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7081298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320110312" target="_blank">Full Text</a>]
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<a id="Zaletaev1987" class="mim-anchor"></a>
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Zaletaev, D. V., Kuleshov, N. P., Lur'e, I. V., Marincheva, G. S.
<strong>Langer-Giedion syndrome and chromosome 8 long arm deletion.</strong>
Sov. Genet. 23: 629-633, 1987.
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<a id="Zaletajev1983" class="mim-anchor"></a>
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Zaletajev, D. V., Marincheva, G. S.
<strong>Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.</strong>
Hum. Genet. 63: 178-182, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6840761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6840761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6840761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00291541" target="_blank">Full Text</a>]
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Anne M. Stumpf - updated : 04/06/2020
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Sonja A. Rasmussen - updated : 12/12/2013<br>Cassandra L. Kniffin - updated : 7/5/2012<br>Victor A. McKusick - updated : 1/14/2005<br>Cassandra L. Kniffin - reorganized : 10/30/2003<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 6/18/1999
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Victor A. McKusick : 6/2/1986
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alopez : 04/06/2020
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<h3>
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<strong>#</strong> 150230
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TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
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<em>Alternative titles; symbols</em>
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LANGER-GIEDION SYNDROME; LGS<br />
CHROMOSOME 8q24.1 DELETION SYNDROME
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<strong>SNOMEDCT:</strong> 41069008; &nbsp;
<strong>ORPHA:</strong> 502; &nbsp;
<strong>DO:</strong> 4998; &nbsp;
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Cytogenetic location: 8q24.11-q24.13
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Genomic coordinates <span class="small">(GRCh38)</span> : 8:116,700,001-126,300,000 </span>
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<strong>Gene-Phenotype 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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8q24.11-q24.13
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Trichorhinophalangeal syndrome, type II
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150230
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Autosomal dominant
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4
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is a contiguous gene syndrome on 8q24.1, involving loss of functional copies of the TRPS1 (604386) and EXT1 (608177) genes.</p><p>TRPS type II combines the clinical features of trichorhinophalangeal syndrome type I (190350) and multiple exostoses type I (133700), which are caused by mutations in the TRPS1 and EXT1 genes, respectively.</p><p>See also Cornelia de Lange syndrome-4 (CDLS4; 614701), caused by mutation in the RAD21 gene (606462), which lies on 8q24 between TRPS1 and EXT1.</p>
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<strong>Description</strong>
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<p>Trichorhinophalangeal syndrome type II (TRPS2), or Langer-Giedion syndrome (LGS), is a contiguous gene deletion syndrome characterized by cone-shaped epiphyses, multiple cartilaginous exostoses, and facial dysmorphism including bulbous nose, elongated upper lip with flat philtrum, and large protruding ears. Scalp hair is usually sparse, with thin and brittle hair shafts. Intellectual development is mildly to moderately impaired. Seizures have occasionally been reported. Other skeletal or orthopedic, urogenital, and endocrine anomalies may be present (summary by Schinzel et al., 2013). </p>
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<strong>Clinical Features</strong>
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<p>Hall et al. (1974) described a condition that they called the Langer-Giedion syndrome in which affected individuals had multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Kozlowski et al. (1977) reported 2 unrelated patients, a girl and a boy, and suggested that the condition may have been described by Ale and Calo (1961). Murachi et al. (1981) described affected father and daughter, suggesting autosomal dominant inheritance. The father was mildly mentally retarded. They noted previous reports of 9 cases, all sporadic. </p><p>Langer et al. (1984) described in detail 4 patients who were not mentally retarded, but who did have mental impairment. Delayed speech development and hearing loss were noted as features. They pointed out that most reported cases had been sporadic. They suggested that the term 'tricho-rhino-phalangeal syndrome with exostoses' be used. They also provided a detailed clinical review of 32 previously reported cases. </p><p>Brenholz et al. (1989) reported LGS in 2 brothers whose mother appeared to have been affected. The maternal grandmother and a maternal first cousin may have been affected.</p><p>Fryns et al. (1983) and Partington et al. (1991) described hydrometrocolpos and hematometra as complications of this syndrome. Kozlowski et al. (1977) and Partington et al. (1991) described ureteral reflux requiring reimplantation of the ureters in the bladder. In a patient with Langer-Giedion syndrome and interstitial 8q deletion, Ramos et al. (1992) found persistent cloaca and the prune belly sequence (100100). Morioka et al. (1999) described a patient with Langer-Giedion syndrome associated with submucous cleft palate. </p><p>Stevens and Moore (1999) described a girl with Langer-Giedion syndrome with deletion of 8q and the unusual findings of bilateral tibial hemimelia (275220) and unilateral absence of the ulna. Turleau et al. (1982) had reported an 8-year-old boy with LGS and bilateral tibial hemimelia. Although no genes involving limb development in the human had been identified in the 8q24.1 critical LGS region, 2 mouse syndromes that involve limb abnormalities mapped to the homologous chromosome region, 9A1-A4: 'luxoid' (absent toes, radial and tibial hemimelia, preaxial polydactyly, bent tail, and oligospermia) and 'aft' (abnormal feet and tail). </p><p>Riedl et al. (2004) described a girl with TRPS II and growth hormone deficiency (see 262400) causing pronounced short stature (-4.8 SD). The patient had an interstitial deletion at 8q24.1 of 12 to 15 Mb. The deletion spanned all genes from CSMD3 (608399) to at least ANXA13 (602573), including the TRPS1 (604386) and EXT1 (608177) genes. Growth hormone deficiency was indicated by diminished response in 3 stimulation tests and a striking response to growth hormone therapy. This was apparently the first observation of combined TRPS II and growth hormone deficiency. </p><p>Schinzel et al. (2013) reported follow-up of 4 persons with TRPS2 into adulthood and reviewed the limited available literature on adults with TRPS2. Most patients had borderline or mild cognitive impairment, with a few with normal intelligence; patients with TRPS2 performed better in practical skills than their academic achievement would suggest. Some patients developed seizures at variable ages. Scoliosis was most often mild. Exostoses typically did not progress further after puberty, and in some patients, became less prominent. However, serious complications related to cervical spinal exostoses, including stroke and spinal cord compression, were occasionally reported. No cases with malignant transformation of exostoses were identified, although the number of patients followed was too low to define malignancy risk. Almost all males lost their hair at or soon after puberty, and some developed gynecomastia. Growth hormone deficiency was infrequently observed. Serious complications related to the eye, ear, and heart were rare. </p>
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<strong>Cytogenetics</strong>
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<p>Buhler et al. (1980) reported the case of a teenage girl with features suggestive of Langer-Giedion syndrome associated with terminal deletion of 8q: the band q24 was missing from one chromosome 8. Pfeiffer (1980) described deletion of a segment (q13-22) of the long arm of chromosome 8 in a mentally retarded boy with Langer-Giedion syndrome. Additional features included colobomata of the iris and defect of the fourth and fifth fingers. Wilson et al. (1981) found interstitial deletion of 8q22.8-q24.1 in a 17-year-old patient with multiple exostoses and developmental delay. Exostoses were first apparent at age 4 years. The patient lacked the typical nose and coned epiphyses of the Langer-Giedion syndrome. Gorlin et al. (1982) found normal chromosomes on prophase banding in 2 patients. Turleau et al. (1982) concluded that 8q23 is the 'critical segment,' not 8q22. Zaletajev and Marincheva (1983) attributed LGS in their patient to interstitial deletion of 8q22. Bowen et al. (1985) described an 18-year-old intellectually normal male with LGS and a small deletion of bands 8q24.11-q24.12. In addition, he had an apparently balanced de novo translocation (2;9)(q21;q13). Neither abnormality was found in the parents. The risk of LGS in any child of the proband would presumably be 50%. </p><p>Okuno et al. (1987) described a typical case with interstitial deletion of 8q24.13-q24.22. Zaletaev et al. (1987) found deletion in 8q in 3 unrelated patients with LGS. The 'critical' region was identified as 8q24.11-q24.13. The findings of Fennell et al. (1989) likewise supported the view that the critical segment for LGS is proximal to or involves a proximal part of 8q24.1. </p>
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<strong>Mapping</strong>
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<p>In reviewing 12 cases from the literature, Buhler and Malik (1984) suggested that the shortest region of overlap of the 8q deletion is in band 8q24.1. They raised the question of whether type I trichorhinophalangeal syndrome may be caused by mutation at the same locus or region. Supporting this suggestion was the description of TRPS I with probable deletion in the same region of 8q (Hamers et al., 1983) and appreciation that the presence or absence of exostoses may be the other 'symptom' that distinguishes types I and II. The fact that the multiple exostoses of LGS are indistinguishable in radiographic features and natural history from those of the long-recognized autosomal dominant disorder 'multiple hereditary exostoses' (see EXT, 133700) suggested that a locus for EXT was situated on 8q. </p><p>Brocas et al. (1986) showed that the thyroglobulin locus, located at 8q24, is intact in LGS. This confirmed the distal location previously defined for LGS and assigned the critical region for the disorder to the proximal part of band 8q24 (8q24.11-q24.13). Buhler et al. (1987) concluded that the Langer-Giedion syndrome is due to a deletion extending from 8q24.11 to 8q24.13, whereas TRPS I is caused by an even smaller deleted segment, namely, 8q24.12. They described a case of TRPS I with a mosaic deletion of that band. </p><p>Ludecke et al. (1989) found 2 RFLPs in an anonymous DNA probe that defined the D8S48 locus within the Langer-Giedion syndrome chromosome region. Both polymorphisms were informative in the family of a Langer-Giedion patient carrying a de novo interstitial deletion 8q23-q24.1. Lack of transmission of a maternal haplotype indicated that the deletion occurred during maternal gametogenesis. </p><p>Ludecke et al. (1989) described the microdissection of the Langer-Giedion syndrome region on chromosome 8 from GTG-banded metaphase chromosomes (G-banding with trypsin-Giemsa) and the universal enzymatic amplification of the dissected DNA. Eighty percent of clones from this library (total yield 20,000) identified single-copy DNA sequences. Half of the clones detected deletions in 2 patients with LGS. Ten of the clones were assigned to the deleted region in Langer-Giedion syndrome (8q23.2-q24.11) based on Southern blot analysis of DNA from 2 patients. The results of Ludecke et al. (1989) demonstrated that thousands of region-specific probes can be isolated in a short period of time. Microdissection and microcloning have been applied successfully to various chromosome regions in Drosophila and mouse, but conventional microtechniques are too coarse and inefficient, especially on unbanded chromosomes, for analysis of the human genome. Ludecke et al. (1991) used 13 anonymous DNA markers from an 8q24.1-specific microdissection library, as well as MYC (190080) and TG (188450) gene probes, to map the deletion breakpoints in 16 patients with LGS. Twelve patients had a cytogenetically visible deletion, 2 had an apparently balanced translocation, and 2 had an apparently normal karyotype. In all cases except 1 translocation patient, loss of genetic material was detected. The DNA markers fell into 10 deletion intervals. Clone L48 (D8S51) defined the shortest region of deletion overlap, which was estimated to be less than 2 Mb. The clones that flanked the shortest region of deletion overlap recognized evolutionarily conserved sequences. Parrish et al. (1991) isolated 8 DNA clones that were found to lie within the deletion of at least 1 of 3 patients with LGS. One clone identified sequences that were missing from 1 copy of chromosome 8 in all 3 patients. </p>
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<strong>Molecular Genetics</strong>
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<p>Using YAC cloning, Southern blotting, PCR analysis, and fluorescence in situ hybridization in the study of chromosome 8 deletions, translocations, an inversion, and an insertion in patients with TRPS I, Langer-Giedion syndrome, or multiple exostoses type I, Ludecke et al. (1995) obtained information indicating that the TRPS1 gene (604386) maps more than 1,000 kb proximal to the EXT1 gene and that both genes are affected in Langer-Giedion syndrome. They concluded that the Langer-Giedion syndrome is not due to pleiotropic effects of mutations in a single gene, but that it is a true contiguous gene syndrome. </p><p>Hou et al. (1995) constructed a physical map covering 4 Mb of 8q24.1 and used this map to refine the location of the genes responsible for LGS. The map was composed of overlapping YAC clones that were identified and ordered in relation to sequence tagged sites mapped to the Langer-Giedion chromosomal region on somatic cell hybrids. The minimal region of overlap of LGS deletions, previously identified by analysis of 15 patients, was placed on the map by analysis of 2 patients whose deletions defined the end points. The chromosome 8 breakpoint of a balanced t(8;9)(q24.1;q33.3) translocation from a patient with TRPS I was found to be located just within the proximal end of the minimal deletion region. A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and providing further support for the hypothesis that LGS is due to loss of functional copies of both the TRPS1 and the EXT1 genes. </p>
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<strong>See Also:</strong>
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Beighle et al. (1977); Buhler et al. (1983); Buhler (1982); Fryns et
al. (1980); Fukushima et al. (1983); Giedion (1969); Langer (1969);
Ludecke et al. (1989); Murachi et al. (1979); Oorthuys and Beemer
(1979); Shabtai et al. (1985); Stoltzfus et al. (1977); Wilson et al.
(1979); Zabel and Baumann (1982)
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<strong>REFERENCES</strong>
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Ale, G., Calo, S.
<strong>On a case of peripheral dysostosis associated with multiple osteogenic exostoses, dysuniform and dysharmonic hyposomnia.</strong>
Ann. Radiol. Diag. (Bologna) 34: 376-385, 1961.
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Beighle, C., Karp, L. E., Hanson, J. W., Hall, J. G., Hoehn, H.
<strong>Small structural changes of chromosome 8.</strong>
Hum. Genet. 38: 113-121, 1977.
[PubMed: 903151]
[Full Text: https://doi.org/10.1007/BF00295814]
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Bowen, P., Biederman, B., Hoo, J. J.
<strong>The critical segment for the Langer-Giedion syndrome: 8q24.11-q24.12.</strong>
Ann. Genet. 28: 224-227, 1985.
[PubMed: 3879433]
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Brenholz, P., Swayne, L., Twersky, S., Arbeitel, B., Singer, N.
<strong>Dominant inheritance of the Langer-Giedion syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A41 only, 1989.
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Brocas, H., Buhler, E. M., Simon, P., Malik, N. J., Vassart, G.
<strong>Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.</strong>
Hum. Genet. 74: 178-180, 1986.
[PubMed: 2876948]
[Full Text: https://doi.org/10.1007/BF00282087]
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Buhler, E. M., Buhler, U. K., Beutler, C., Fessler, R.
<strong>A final word on the tricho-rhino-phalangeal syndromes.</strong>
Clin. Genet. 31: 273-275, 1987.
[PubMed: 3594935]
[Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb02806.x]
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Buhler, E. M., Buhler, U. K., Christen, R.
<strong>Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?</strong>
Hum. Genet. 64: 163-166, 1983.
[PubMed: 6885052]
[Full Text: https://doi.org/10.1007/BF00327117]
</p>
</li>
<li>
<p class="mim-text-font">
Buhler, E. M., Buhler, U. K., Stalder, G. R., Jani, L., Jurik, L. P.
<strong>Chromosome deletion and multiple cartilaginous exostoses.</strong>
Europ. J. Pediat. 133: 163-166, 1980.
[PubMed: 6965910]
[Full Text: https://doi.org/10.1007/BF00441586]
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<p class="mim-text-font">
Buhler, E. M., Malik, N. J.
<strong>The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? (Editorial)</strong>
Am. J. Med. Genet. 19: 113-119, 1984.
[PubMed: 6496563]
[Full Text: https://doi.org/10.1002/ajmg.1320190111]
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<li>
<p class="mim-text-font">
Buhler, E. M.
<strong>Langer-Giedion syndrome and 8q- deletion. (Editorial)</strong>
Am. J. Med. Genet. 11: 359 only, 1982.
</p>
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<p class="mim-text-font">
Fennell, S. J., Benson, J. W. T., Kindley, A. D., Schwarz, M. J., Czepulkowski, B.
<strong>Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.</strong>
J. Med. Genet. 26: 167-171, 1989.
[PubMed: 2651669]
[Full Text: https://doi.org/10.1136/jmg.26.3.167]
</p>
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<p class="mim-text-font">
Fryns, J. P., Emmery, L., Timmermans, J., Pedersen, J. C., van den Berghe, H.
<strong>Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5-year-old boy.</strong>
J. Genet. Hum. 28: 53-56, 1980.
[PubMed: 7400785]
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Fryns, J. P., Heremans, G., Marien, J., Van den Berghe, H.
<strong>Langer-Giedion syndrome and deletion of the long arm of chromosome 8: confirmation of the critical segment to 8q23.</strong>
Hum. Genet. 64: 194-195, 1983.
[PubMed: 6885060]
[Full Text: https://doi.org/10.1007/BF00327126]
</p>
</li>
<li>
<p class="mim-text-font">
Fukushima, Y., Kuroki, Y., Izawa, T.
<strong>Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13).</strong>
Hum. Genet. 64: 90-93, 1983.
[PubMed: 6336324]
[Full Text: https://doi.org/10.1007/BF00289486]
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Giedion, A.
<strong>Die periphere Dysostose (pD)--ein Sammelbegriff.</strong>
Fortschr. Roentgenstr. 110: 507-534, 1969.
[PubMed: 5307918]
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Gorlin, R. J., Cervenka, J., Bloom, B. A., Langer, L. O., Jr.
<strong>No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome. (Letter)</strong>
Am. J. Med. Genet. 13: 345-347, 1982.
[PubMed: 6983832]
[Full Text: https://doi.org/10.1002/ajmg.1320130322]
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Hall, B. D., Langer, L. O., Jr., Giedion, A., Smith, D. W., Cohen, M. M., Beals, R. K., Brandner, M.
<strong>Langer-Giedion syndrome.</strong>
Birth Defects Orig. Art. Ser. X(12): 147-164, 1974.
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Hamers, A., Jongbloet, P., Peeters, G., Geraedts, J.
<strong>Microcytogenetics of chromosome 8q. (Abstract)</strong>
8th International Chromosome Conference, Lubeck, W. Germany 1983. Note: Abstract 8.
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Hou, J., Parrish, J., Ludecke, H.-J., Sapru, M., Wang, Y., Chen, W., Hill, A., Siegel-Bartelt, J., Northrup, H., Elder, F. F. B., Chinault, C., Horsthemke, B., Wagner, M. J., Wells, D. E.
<strong>A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).</strong>
Genomics 29: 87-97, 1995.
[PubMed: 8530105]
[Full Text: https://doi.org/10.1006/geno.1995.1218]
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Kozlowski, K., Harrington, G., Barylak, A., Bartoszewica, B.
<strong>Multiple exostoses-mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome): description of two childhood cases.</strong>
Clin. Pediat. 16: 219-224, 1977.
[PubMed: 300047]
[Full Text: https://doi.org/10.1177/000992287701600302]
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Langer, L. O., Jr., Krassikoff, N., Laxova, R., Scheer-Williams, M., Lutter, L. D., Gorlin, R. J., Jennings, C. G., Day, D. W.
<strong>The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.</strong>
Am. J. Med. Genet. 19: 81-111, 1984.
[PubMed: 6496574]
[Full Text: https://doi.org/10.1002/ajmg.1320190110]
</p>
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<p class="mim-text-font">
Langer, L. O., Jr.
<strong>The thoracic-pelvic-phalangeal dystrophy.</strong>
Birth Defects Orig. Art. Ser. V(4): 55-64, 1969.
</p>
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<p class="mim-text-font">
Ludecke, H.-J., Burdiek, R., Senger, G., Claussen, U., Passarge, E., Horsthemke, B.
<strong>Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.</strong>
Hum. Genet. 82: 327-329, 1989.
[PubMed: 2567694]
[Full Text: https://doi.org/10.1007/BF00273991]
</p>
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<li>
<p class="mim-text-font">
Ludecke, H.-J., Johnson, C., Wagner, M. J., Wells, D. E., Turleau, C., Tommerup, N., Latos-Bielenska, A., Sandig, K.-R., Meinecke, P., Zabel, B., Horsthemke, B.
<strong>Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.</strong>
Am. J. Hum. Genet. 49: 1197-1206, 1991.
[PubMed: 1836105]
</p>
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Ludecke, H.-J., Senger, G., Claussen, U., Horsthemke, B.
<strong>Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification.</strong>
Nature 338: 348-350, 1989.
[PubMed: 2784197]
[Full Text: https://doi.org/10.1038/338348a0]
</p>
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<p class="mim-text-font">
Ludecke, H.-J., Senger, G., Claussen, U., Horsthemke, B.
<strong>Molecular approach to the Langer-Giedion syndrome chromosome region. (Abstract)</strong>
Cytogenet. Cell Genet. 51: 1035 only, 1989.
</p>
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Ludecke, H.-J., Wagner, M. J., Nardmann, J., La Pillo, B., Parrish, J. E., Willems, P. J., Haan, E. A., Frydman, M., Hamers, G. J. H., Wells, D. E., Horsthemke, B.
<strong>Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.</strong>
Hum. Molec. Genet. 4: 31-36, 1995.
[PubMed: 7711731]
[Full Text: https://doi.org/10.1093/hmg/4.1.31]
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Morioka, D., Suse, T., Shimizu, Y., Ohkubo, F., Hosaka, Y.
<strong>Langer-Giedion syndrome associated with submucous cleft palate.</strong>
Plast. Reconstr. Surg. 103: 1458-1463, 1999.
[PubMed: 10190443]
[Full Text: https://doi.org/10.1097/00006534-199904050-00015]
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Murachi, S., Itoh, H., Sugiura, Y.
<strong>Tricho-rhino-phalangeal syndrome type II: the Langer-Giedion syndrome.</strong>
Jpn. J. Hum. Genet. 24: 27-36, 1979.
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Murachi, S., Nogami, H., Oki, T., Ogino, T.
<strong>Familial tricho-rhino-phalangeal syndrome type II.</strong>
Clin. Genet. 19: 149-155, 1981.
[PubMed: 6974063]
[Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb00688.x]
</p>
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Okuno, T., Inoue, A., Asakura, T., Nakao, S.
<strong>Langer-Giedion syndrome with del8(q24.13-q24.22).</strong>
Clin. Genet. 32: 40-45, 1987.
[PubMed: 3502694]
[Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb03321.x]
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Oorthuys, J. W. E., Beemer, F. A.
<strong>The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).</strong>
Europ. J. Pediat. 132: 55-59, 1979.
[PubMed: 91515]
[Full Text: https://doi.org/10.1007/BF00443205]
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Parrish, J. E., Wagner, M. J., Hecht, J. T., Scott, C. I., Jr., Wells, D. E.
<strong>Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome.</strong>
Genomics 11: 54-61, 1991.
[PubMed: 1684953]
[Full Text: https://doi.org/10.1016/0888-7543(91)90101-j]
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Partington, M. W., Rae, J., Payne, M. J.
<strong>Haematometra in the Langer-Giedion syndrome. (Letter)</strong>
J. Med. Genet. 28: 644-645, 1991.
[PubMed: 1956070]
[Full Text: https://doi.org/10.1136/jmg.28.9.644-b]
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Pfeiffer, R. A.
<strong>Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8: 46,XY,del8(q13-22).</strong>
Clin. Genet. 18: 142-146, 1980.
[PubMed: 6254701]
[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb01025.x]
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Ramos, F. J., McDonald-McGinn, D. M., Emanuel, B. S., Zackai, E. H.
<strong>Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.</strong>
Am. J. Med. Genet. 44: 790-794, 1992.
[PubMed: 1481848]
[Full Text: https://doi.org/10.1002/ajmg.1320440614]
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Riedl, S., Giedion, A., Schweitzer, K., Mullner-Eidenbock, A., Grill, F., Frisch, H., Ludecke, H.-J.
<strong>Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.</strong>
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[PubMed: 15523607]
[Full Text: https://doi.org/10.1002/ajmg.a.30374]
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Schinzel, A., Riegel, M., Baumer, A., Superti-Furga, A., Moreira, L. M. A., Santo, L. D. E., Schiper, P. P., Dantas Carvalho, J. H., Giedion, A.
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[PubMed: 23913778]
[Full Text: https://doi.org/10.1002/ajmg.a.36062]
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Shabtai, F., Sandowski, U., Nissimov, R., Klar, D., Halbrecht, I.
<strong>Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23-q21.1).</strong>
Clin. Genet. 27: 600-605, 1985.
[PubMed: 4017280]
[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb02045.x]
</p>
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Stevens, C. A., Moore, C. A.
<strong>Tibial hemimelia in Langer-Giedion syndrome--possible gene location for tibial hemimelia at 8q.</strong>
Am. J. Med. Genet. 85: 409-412, 1999.
[PubMed: 10398269]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990806)85:4&lt;409::aid-ajmg19&gt;3.0.co;2-6]
</p>
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<li>
<p class="mim-text-font">
Stoltzfus, E., Ladda, R. L., Lloyd-Still, J. D.
<strong>Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.</strong>
J. Pediat. 91: 277-280, 1977.
[PubMed: 301559]
[Full Text: https://doi.org/10.1016/s0022-3476(77)80832-9]
</p>
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Turleau, C., Chavin-Colin, F., de Grouchy, J., Maroteaux, P., Rivera, H.
<strong>Langer-Giedion syndrome with and without del 8q: assignment of critical segment to 8q23.</strong>
Hum. Genet. 62: 183-187, 1982.
[PubMed: 6984841]
[Full Text: https://doi.org/10.1007/BF00333515]
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<strong>The Langer-Giedion syndrome: report of a 22-year-old woman.</strong>
Pediatrics 64: 542-545, 1979.
[PubMed: 315049]
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Wilson, W. G., Shah, H., Wyandt, H. E.
<strong>Interstitial deletion of 8q in a patient with multiple exostoses and developmental delay. (Abstract)</strong>
Am. J. Hum. Genet. 33: 96A only, 1981.
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Zabel, B. U., Baumann, W. A.
<strong>Langer-Giedion syndrome with interstitial 8q- deletion.</strong>
Am. J. Med. Genet. 11: 353-358, 1982.
[PubMed: 7081298]
[Full Text: https://doi.org/10.1002/ajmg.1320110312]
</p>
</li>
<li>
<p class="mim-text-font">
Zaletaev, D. V., Kuleshov, N. P., Lur'e, I. V., Marincheva, G. S.
<strong>Langer-Giedion syndrome and chromosome 8 long arm deletion.</strong>
Sov. Genet. 23: 629-633, 1987.
</p>
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<li>
<p class="mim-text-font">
Zaletajev, D. V., Marincheva, G. S.
<strong>Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.</strong>
Hum. Genet. 63: 178-182, 1983.
[PubMed: 6840761]
[Full Text: https://doi.org/10.1007/BF00291541]
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