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<title>
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Entry
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- #200610 - ACHONDROGENESIS, TYPE II; ACG2
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- OMIM
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK540447/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1374" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="http://www.informatics.jax.org/disease/200610" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001926/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</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:200610" 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>
|
|
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|
|
|
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|
|
</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.">
|
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|
</span>
|
|
</span>
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|
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</div>
|
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|
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|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<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="
|
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|
|
<strong>SNOMEDCT:</strong> 254061001<br />
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|
|
<strong>ORPHA:</strong> 93296, 93297, 932<br />
|
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|
|
<strong>DO:</strong> 0080056<br />
|
|
|
|
|
|
">ICD+</a>
|
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|
|
</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>
|
|
200610
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
ACHONDROGENESIS, TYPE II; ACG2
|
|
|
|
</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">
|
|
ACHONDROGENESIS, LANGER-SALDINO TYPE<br />
|
|
CHONDROGENESIS IMPERFECTA<br />
|
|
ACHONDROGENESIS, TYPE IB, FORMERLY
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
HYPOCHONDROGENESIS, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325">
|
|
12q13.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Achondrogenesis, type II or hypochondrogenesis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/200610"> 200610 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
COL2A1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> 120140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/200610" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS200600" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/200610" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/200610" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dwarfism, marked micromelic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150094</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cystic hygroma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399882002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399882002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40225001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40225001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000476</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000476</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Barrel-shaped chest <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24228002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24228002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0264172&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264172</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001552</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001552</a>]</span><br /> -
|
|
Short trunk <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521527&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521527</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short, horizontal ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859651</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/359530003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">359530003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367450005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367450005</a>]</span><br /> -
|
|
Normal clavicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860188&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860188</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Distended abdomen <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60728008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60728008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</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> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Enlarged calvaria with normal ossification <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860190</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent vertebral body mineralization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860191&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860191</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004605</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004605</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Non-ossified sacrum, ischial, and pubic bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860192&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860192</a>]</span><br /> -
|
|
Small iliac wings with concave inferior and medial margin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860193</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">
|
|
|
|
- Very short, broad tubular bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860194</a>]</span><br /> -
|
|
Flared, cupped metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860195&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860195</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">
|
|
|
|
- Short tubular bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003026</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003026</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Non-ossified talus and calcaneus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860196&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860196</a>]</span><br /> -
|
|
Short tubular bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003026</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003026</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Fetal hydrops <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276508000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276508000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P83.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P83.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001789</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Amniotic Fluid </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Polyhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Delivery </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Stillborn or death shortly after birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850556</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</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">
|
|
|
|
- Most cases result from de novo mutations<br /> -
|
|
Stillborn or death shortly after birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850556</a>]</span><br /> -
|
|
Hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum<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">
|
|
|
|
- Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, <a href="/entry/120140#0002">120140.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Achondrogenesis
|
|
- <a href="/phenotypicSeries/PS200600">PS200600</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">
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<a href="/entry/600972"> Achondrogenesis Ib </a>
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<a href="/entry/200600"> Achondrogenesis, type IA </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that achondrogenesis type II (ACG2) is caused by heterozygous mutation in the COL2A1 gene (<a href="/entry/120140">120140</a>) on chromosome 12q13.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of achondrogenesis, see ACG1A (<a href="/entry/200600">200600</a>).</p>
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<p>Achondrogenesis type II (ACG2) is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. ACG2 is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by <a href="#5" class="mim-tip-reference" title="Comstock, J. M., Putnam, A. R., Sangle, N., Lowichik, A., Rose, N. C., Opitz, J. M. <strong>Recurrence of achondrogenesis type 2 in sibs: additional evidence for germline mosaicism.</strong> Am. J. Med. Genet. 152A: 1822-1824, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583175</a>] [<a href="https://doi.org/10.1002/ajmg.a.33463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20583175">Comstock et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20583175" 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="#25" class="mim-tip-reference" title="Spranger, J. W., Langer, L. O., Jr., Wiedemann, H.-R. <strong>Bone Dysplasias. An Atlas of Constitutional Disorders of Skeletal Development.</strong> Philadelphia: W. B. Saunders (pub.) 1974."None>Spranger et al. (1974)</a> distinguished 2 forms of achondrogenesis, which they called types I and II. Type I was subdivided into type IA (<a href="/entry/200600">200600</a>) and IB (<a href="/entry/600972">600972</a>). In type I, the ribs tend to be thin, often with multiple fractures. This finding led <a href="#13" class="mim-tip-reference" title="Harris, R., Patton, I. T., Barson, A. J. <strong>Pseudo-achondrogenesis with fractures.</strong> Clin. Genet. 3: 435-441, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4568361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4568361</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1972.tb01477.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4568361">Harris et al. (1972)</a> to refer to it as pseudoachondrogenesis with fractures. Indeed, it might be confused with the broad-bone form of osteogenesis imperfecta (<a href="/entry/166210">166210</a>). Type II achondrogenesis is characterized by virtual absence of ossification in the vertebral column, sacrum and pubic bones. <a href="#23" class="mim-tip-reference" title="Saldino, R. M. <strong>Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 112: 185-197, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5582025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5582025</a>] [<a href="https://doi.org/10.2214/ajr.112.1.185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5582025">Saldino (1971)</a> reported on this form. In both forms the trunk is short with prominent abdomen and hydropic appearance. Micromelia is striking. In both, death occurs in utero or the early neonatal period. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5582025+4568361" 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="Chen, H., Liu, C. T., Yang, S. S. <strong>Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino).</strong> Am. J. Med. Genet. 10: 379-394, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7036745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7036745</a>] [<a href="https://doi.org/10.1002/ajmg.1320100411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7036745">Chen et al. (1981)</a> reported 2 cases and reviewed reported cases in extenso. As compared with type I, the cases of type II, or Langer-Saldino type, showed fewer stillbirths, longer survival, longer gestational period, larger size of baby, longer limbs, and characteristic craniofacial features (prominent forehead, flat face, micrognathia). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7036745" 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="Spranger, J. <strong>Pattern recognition in bone dysplasias. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Endocrine Genetics and Genetics of Growth.</strong> New York: Alan R. Liss (pub.) 1985. Pp. 315-342."None>Spranger (1985)</a> introduced the concept of 'bone dysplasia families' as exemplified by the similar pattern of radiographically demonstrated skeletal abnormalities, called dysostosis multiplex, produced by a variety of lysosomal storage diseases. The concept postulates that the developing skeleton reacts in a stereotypic fashion to heterogeneous disturbances of a single metabolic pathway. <a href="#26" class="mim-tip-reference" title="Spranger, J. <strong>Pattern recognition in bone dysplasias. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Endocrine Genetics and Genetics of Growth.</strong> New York: Alan R. Liss (pub.) 1985. Pp. 315-342."None>Spranger (1985)</a> defined one such family as consisting of type II achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita, the 3 disorders constituting a spectrum of decreasing severity. This family of disorders may be etiologically more intimately related than are the various conditions that produce dysostosis multiplex, since there is evidence of abnormality of type II collagen in SED congenita (<a href="#19" class="mim-tip-reference" title="Murray, L. W., Rimoin, D. L. <strong>Abnormal type II collagen in the spondyloepiphyseal dysplasias.</strong> Pathol. Immunopathol. Res. 7: 99-103, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3222214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3222214</a>] [<a href="https://doi.org/10.1159/000157111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3222214">Murray and Rimoin, 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3222214" 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>Hypochondrogenesis (<a href="#14" class="mim-tip-reference" title="Hendrickx, G., Hoefsloot, F., Kramer, P., Van Haelst, U. <strong>Hypochondrogenesis; an additional case.</strong> Europ. J. Pediat. 140: 278-281, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6628450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6628450</a>] [<a href="https://doi.org/10.1007/BF00443377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6628450">Hendrickx et al., 1983</a>) may bear the same relationship to achondrogenesis that hypochondroplasia does to achondroplasia, i.e., it may be an allelic variant. <a href="#27" class="mim-tip-reference" title="Stanescu, V., Stanescu, R., Maroteaux, P. <strong>Etude morphologique et biochimique du cartilage de croissance dans les osteochondrodysplasies.</strong> Arch. Franc. Pediat. 34: 1-80, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/70194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">70194</a>]" pmid="70194">Stanescu et al. (1977)</a> described 3 cases and introduced the term hypochondrogenesis. <a href="#3" class="mim-tip-reference" title="Borochowitz, Z., Ornoy, A., Lachman, R., Rimoin, D. L. <strong>Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity.</strong> Am. J. Med. Genet. 24: 273-288, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3717210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3717210</a>] [<a href="https://doi.org/10.1002/ajmg.1320240208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3717210">Borochowitz et al. (1986)</a> favored the view that hypochondrogenesis and achondrogenesis of the Langer-Saldino type are part of the spectrum of severity of the same disorder. <a href="#17" class="mim-tip-reference" title="Maroteaux, P., Stanescu, R., Stanescu, V. <strong>Personal Communication.</strong> Paris, France 8/1/1991."None>Maroteaux et al. (1991)</a> reiterated the view that hypochondrogenesis is an allelic form of the Langer-Saldino type of achondrogenesis, a conclusion that is probably supported by the finding of abnormalities of type II collagen in these cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=70194+3717210+6628450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Superti-Furga, A. <strong>Personal Communication.</strong> Zurich, Switzerland 7/5/1996."None>Superti-Furga (1996)</a> suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. As in achondrogenesis type II, all cases represent de novo autosomal dominant mutations in the COL2A1 gene.</p>
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<p>In a case of lethal short-limbed dwarfism, <a href="#6" class="mim-tip-reference" title="Eyre, D. R., Upton, M. P., Shapiro, F. D., Wilkinson, R. H., Vawter, G. F. <strong>Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.</strong> Am. J. Hum. Genet. 39: 52-67, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3752081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3752081</a>]" pmid="3752081">Eyre et al. (1986)</a> found that the cartilage in all sites had an abnormal gelatinous texture and translucent appearance. No type II collagen was detected at any site; type I was the predominant collagen present. However, cartilage-specific proteoglycans appeared to be abundant. <a href="#6" class="mim-tip-reference" title="Eyre, D. R., Upton, M. P., Shapiro, F. D., Wilkinson, R. H., Vawter, G. F. <strong>Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.</strong> Am. J. Hum. Genet. 39: 52-67, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3752081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3752081</a>]" pmid="3752081">Eyre et al. (1986)</a> suggested that chondrogenesis imperfecta might be a satisfactory designation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3752081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Horton, W. A., Machado, M. A., Chou, J. W., Campbell, D. <strong>Achondrogenesis type II, abnormalities of extracellular matrix.</strong> Pediat. Res. 22: 324-329, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3309860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3309860</a>] [<a href="https://doi.org/10.1203/00006450-198709000-00017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3309860">Horton et al. (1987)</a> studied growth cartilage in 7 cases of what they designated achondrogenesis type II. The normal architecture of the epiphyseal and growth plate cartilage was replaced by morphologically heterogeneous tissue. Some areas were composed of vascular canals surrounded by extensive fibrous tissue and enlarged cells that had the appearance and histochemical characteristics of hypertrophic chondrocytes. Other areas contained a mixture of cells ranging from small to enlarged chondrocytes. Extracellular matrix in the latter area was more abundant than in the former and had characteristics of both precartilage mesenchymal matrix and typical cartilage matrix; it contained types I and II collagen and other constituents. Peptide mapping of cyanogen bromide cartilage collagen peptides revealed the presence of types I and II collagen. These observations might indicate a defect in the biosynthesis of type II collagen or in chondrocyte differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3309860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Godfrey, M., Keene, D. R., Blank, E., Hori, H., Sakai, L. Y., Sherwin, L. A., Hollister, D. W. <strong>Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.</strong> Am. J. Hum. Genet. 43: 894-903, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3057886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3057886</a>]" pmid="3057886">Godfrey et al. (1988)</a> described the clinical, radiographic, histologic, and ultrastructural abnormalities in a mild case of type II achondrogenesis-hypochondrogenesis fitting the classification criteria of Whitley-Gorlin prototype IV (<a href="#31" class="mim-tip-reference" title="Whitley, C. B., Gorlin, R. J. <strong>Achondrogenesis: new nosology with evidence of genetic heterogeneity.</strong> Radiology 148: 693-698, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6878687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6878687</a>] [<a href="https://doi.org/10.1148/radiology.148.3.6878687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6878687">Whitley and Gorlin, 1983</a>). Immunohistochemical studies using a monoclonal antibody against type II collagen showed intense staining of small, rounded-to-oval structures within chondrocytes, strongly suggesting intracellular accumulation of this collagen type, probably in the distended cisternae of the rough endoplasmic reticulum observed in all chondrocytes by electron-microscopic studies. These observations raised the possibility of an abnormal type II collagen produced by, and accumulating within, chondrocytes. <a href="#11" class="mim-tip-reference" title="Godfrey, M., Hollister, D. W. <strong>Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.</strong> Am. J. Hum. Genet. 43: 904-913, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3195588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3195588</a>]" pmid="3195588">Godfrey and Hollister (1988)</a> presented evidence that the patient they studied was heterozygous for an abnormal pro-alpha-1 (II) chain which impaired the assembly and/or folding of type II collagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6878687+3057886+3195588" 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="#8" class="mim-tip-reference" title="Feshchenko, S. P., Rebrin, I. A., Sokolnik, V. P., Sher, B. M., Sokolov, B. P., Kalinin, V. N., Lazjuk, G. I. <strong>The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis.</strong> Hum. Genet. 82: 49-54, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2714779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2714779</a>] [<a href="https://doi.org/10.1007/BF00288271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2714779">Feshchenko et al. (1989)</a> described absence of type II collagen and a quantitative and qualitative change in proteoglycans in hyaline cartilage of the ribs and knee joint in a stillborn female with type II achondrogenesis. As they pointed out, studies in both parents would help in connection with the question of whether this represented homozygosity for a mutation located in the COL2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2714779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#21" class="mim-tip-reference" title="Potocki, L., Abuelo, D. N., Oyer, C. E. <strong>Cardiac malformation in two infants with hypochondrogenesis.</strong> Am. J. Med. Genet. 59: 295-299, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8599352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8599352</a>] [<a href="https://doi.org/10.1002/ajmg.1320590306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8599352">Potocki et al. (1995)</a> reported defects in cardiac septation in 2 infants with hypochondrogenesis. One infant had a complete AV canal defect. The second had a secundum type atrial septal defect. <a href="#21" class="mim-tip-reference" title="Potocki, L., Abuelo, D. N., Oyer, C. E. <strong>Cardiac malformation in two infants with hypochondrogenesis.</strong> Am. J. Med. Genet. 59: 295-299, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8599352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8599352</a>] [<a href="https://doi.org/10.1002/ajmg.1320590306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8599352">Potocki et al. (1995)</a> raised the question whether type II collagen may function in human cardiogenesis even though it is not detected in myocardium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8599352" 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="#22" class="mim-tip-reference" title="Rittler, M., Orioli, I. M. <strong>Achondrogenesis type II with polydactyly.</strong> Am. J. Med. Genet. 59: 157-160, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588578</a>] [<a href="https://doi.org/10.1002/ajmg.1320590208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8588578">Rittler and Orioli (1995)</a> described postaxial polydactyly of the feet in a severely affected newborn with achondrogenesis type II. The possibility that it represented a contiguous gene syndrome due to a deletion on chromosome 12 was raised. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8588578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Faivre, L., Le Merrer, M., Douvier, S., Laurent, N., Thauvin-Robinet, C., Rousseau, T., Vereecke, I., Sagot, P., Delezoide, A.-L., Coucke, P., Mortier, G. <strong>Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.</strong> Am. J. Med. Genet. 126A: 308-312, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054848</a>] [<a href="https://doi.org/10.1002/ajmg.a.20597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054848">Faivre et al. (2004)</a> reported the recurrence of achondrogenesis type II in 2 successive pregnancies of a healthy, nonconsanguineous young couple. In the second fetus a G316D mutation in the COL2A1 gene (<a href="/entry/120140#0038">120140.0038</a>) was detected. A heterozygous mutation was not found in either parent. <a href="#7" class="mim-tip-reference" title="Faivre, L., Le Merrer, M., Douvier, S., Laurent, N., Thauvin-Robinet, C., Rousseau, T., Vereecke, I., Sagot, P., Delezoide, A.-L., Coucke, P., Mortier, G. <strong>Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.</strong> Am. J. Med. Genet. 126A: 308-312, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054848</a>] [<a href="https://doi.org/10.1002/ajmg.a.20597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054848">Faivre et al. (2004)</a> concluded that recurrence was due to germline mosaicism in 1 parent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Forzano, F., Lituania, M., Viassolo, V., Superti-Furga, A., Wildhardt, G., Zabel, B., Faravelli, F. <strong>A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father.</strong> Am. J. Med. Genet. 143A: 2815-2820, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994563</a>] [<a href="https://doi.org/10.1002/ajmg.a.32047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17994563">Forzano et al. (2007)</a> reported another family with recurrence of achondrogenesis type II in 3 fetuses. Genetic analysis provided proof of somatic mosaicism for a COL2A1 mutation in the father (G346V; <a href="/entry/120140#0053">120140.0053</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994563" 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="Comstock, J. M., Putnam, A. R., Sangle, N., Lowichik, A., Rose, N. C., Opitz, J. M. <strong>Recurrence of achondrogenesis type 2 in sibs: additional evidence for germline mosaicism.</strong> Am. J. Med. Genet. 152A: 1822-1824, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583175</a>] [<a href="https://doi.org/10.1002/ajmg.a.33463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20583175">Comstock et al. (2010)</a> reported another family in which 2 fetuses had achondrogenesis type II. Molecular analysis confirmed a heterozygous mutation in the COL2A1 gene in the second affected fetus, but molecular studies could not be completed on the first fetus. Neither parent was affected, although the father reportedly was born with clubfoot. The parents had 6 healthy term gestations and 1 spontaneous first-trimester loss. Overall, the findings suggested germline mosaicism, which increased the recurrence risk from background risk in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20583175" 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 the patient with type II achondrogenesis-hypochondrogenesis reported by <a href="#11" class="mim-tip-reference" title="Godfrey, M., Hollister, D. W. <strong>Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.</strong> Am. J. Hum. Genet. 43: 904-913, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3195588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3195588</a>]" pmid="3195588">Godfrey and Hollister (1988)</a>, <a href="#30" class="mim-tip-reference" title="Vissing, H., D'Alessio, M., Lee, B., Ramirez, F., Godfrey, M., Hollister, D. W. <strong>Glycine to serine substitution in the triple helical domain of pro-alpha-1(II) collagen results in a lethal perinatal form of short-limbed dwarfism.</strong> J. Biol. Chem. 264: 18265-18267, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2572591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2572591</a>]" pmid="2572591">Vissing et al. (1989)</a> demonstrated heterozygosity for a missense mutation in the COL2A1 gene (<a href="/entry/120140#0002">120140.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2572591+3195588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an infant with a severe form of skeletal dysplasia who required continuous respiratory support until his death at 3 months of age, <a href="#2" class="mim-tip-reference" title="Bogaert, R., Tiller, G. E., Weis, M. A., Gruber, H. E., Rimoin, D. L., Cohn, D. H., Eyre, D. R. <strong>An amino acid substitution (gly853-to-glu) in the collagen alpha-1(II) chain produces hypochondrogenesis.</strong> J. Biol. Chem. 267: 22522-22526, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1429602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1429602</a>]" pmid="1429602">Bogaert et al. (1992)</a> demonstrated a missense mutation in the COL2A1 gene (<a href="/entry/120140#0009">120140.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1429602" 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="#18" class="mim-tip-reference" title="Mortier, G. R., Wilkin, D. J., Wilcox, W. R., Rimoin, D. L., Lachman, R. S., Ryre, D. R., Cohn, D. H. <strong>A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-to-Arg) in the type II collagen trimer.</strong> Hum. Molec. Genet. 4: 285-288, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757081</a>] [<a href="https://doi.org/10.1093/hmg/4.2.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757081">Mortier et al. (1995)</a> described a missense mutation in the COL2A1 gene (<a href="/entry/120140#0022">120140.0022</a>) resulting in achondrogenesis type II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7757081" 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>Early editions of OMIM had designated type II achondrogenesis as type IB and had incorrectly cataloged it as an autosomal recessive disorder.</p><p><strong><em>Achondrogenesis Types III and IV</em></strong></p><p>
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On radiologic grounds, <a href="#31" class="mim-tip-reference" title="Whitley, C. B., Gorlin, R. J. <strong>Achondrogenesis: new nosology with evidence of genetic heterogeneity.</strong> Radiology 148: 693-698, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6878687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6878687</a>] [<a href="https://doi.org/10.1148/radiology.148.3.6878687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6878687">Whitley and Gorlin (1983)</a> identified 4 subtypes of achondrogenesis. Their achondrogenesis type I was the Parenti-Fraccaro type, called type I in other classifications; however, they divided the classic type II (Langer-Saldino type) into 3 types called II, III, and IV. They introduced the 'femoral cylinder index,' or CI(femur): length/width. Their types I and II have the same CI(femur), namely 1.0 to 2.8, and both have crenated ilia and stellate long bones, but multiple rib fractures, characteristic of type I, are not found in type II. Type III has unfractured ribs, halberd ilia, mushroom-stem long bones, and a CI(femur) of 2.8 to 4.9. Type IV has unfractured ribs, sculpted ilia, well-developed long bones, and a CI(femur) of 4.9 to 8.0. <a href="#31" class="mim-tip-reference" title="Whitley, C. B., Gorlin, R. J. <strong>Achondrogenesis: new nosology with evidence of genetic heterogeneity.</strong> Radiology 148: 693-698, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6878687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6878687</a>] [<a href="https://doi.org/10.1148/radiology.148.3.6878687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6878687">Whitley and Gorlin (1983)</a> suggested that 'achondrogenesis type IV...should be considered synonymous with hypochondrogenesis until there are sufficient criteria to distinguish the suspected genetic heterogeneity.' In a survey of lethal osteochondrodysplasias in the county of Fyn (Funen), Denmark, <a href="#1" class="mim-tip-reference" title="Andersen, P. E., Jr. <strong>Prevalence of lethal osteochondrodysplasias in Denmark.</strong> Am. J. Med. Genet. 32: 484-489, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2789000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2789000</a>] [<a href="https://doi.org/10.1002/ajmg.1320320411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2789000">Andersen (1989)</a> identified new cases of type III achondrogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6878687+2789000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Superti-Furga, A. <strong>Achondrogenesis 1B.</strong> J. Med. Genet. 33: 957-961, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8950678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8950678</a>] [<a href="https://doi.org/10.1136/jmg.33.11.957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8950678">Superti-Furga (1996)</a> stated that the radiologic classification devised by <a href="#31" class="mim-tip-reference" title="Whitley, C. B., Gorlin, R. J. <strong>Achondrogenesis: new nosology with evidence of genetic heterogeneity.</strong> Radiology 148: 693-698, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6878687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6878687</a>] [<a href="https://doi.org/10.1148/radiology.148.3.6878687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6878687">Whitley and Gorlin (1983)</a> did not prove helpful and was abandoned. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8950678+6878687" 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>On histologic grounds, the bulldog calf appears to be an authentic model of the Langer-Saldino type of achondrogenesis. Abnormalities of type II collagen were demonstrated by <a href="#24" class="mim-tip-reference" title="Sanford, J. A., Ellard, J., Horton, W. A. <strong>Type II collagen abnormalities in a bovine model of achondrogenesis type II (Langer-Saldino). (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A62 only, 1989."None>Sanford et al. (1989)</a>, although no abnormality of the COL2A1 gene or its mRNA transcripts could be demonstrated.</p>
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<a href="#Fraccaro1952" class="mim-tip-reference" title="Fraccaro, M. <strong>Contributo allo studio delle malattie del mesenchima osteopoietico: l'acondrogenesi.</strong> Folia Hered. Path. 1: 190-208, 1952.">Fraccaro (1952)</a>; <a href="#Houston1972" class="mim-tip-reference" title="Houston, C. S., Awen, C. F., Kent, H. P. <strong>Fatal neonatal dwarfism.</strong> J. Canad. Assoc. Radiol. 23: 45-61, 1972.">Houston et al. (1972)</a>; <a href="#Parenti1936" class="mim-tip-reference" title="Parenti, G. C. <strong>La anosteogenesi (una varieta della osteogenesi imperfetta).</strong> Pathologica 28: 447-462, 1936.">Parenti (1936)</a>
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Andersen, P. E., Jr.
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<strong>Prevalence of lethal osteochondrodysplasias in Denmark.</strong>
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Am. J. Med. Genet. 32: 484-489, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2789000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2789000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2789000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320320411" target="_blank">Full Text</a>]
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Bogaert, R., Tiller, G. E., Weis, M. A., Gruber, H. E., Rimoin, D. L., Cohn, D. H., Eyre, D. R.
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<strong>An amino acid substitution (gly853-to-glu) in the collagen alpha-1(II) chain produces hypochondrogenesis.</strong>
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J. Biol. Chem. 267: 22522-22526, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1429602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1429602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1429602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Borochowitz, Z., Ornoy, A., Lachman, R., Rimoin, D. L.
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<strong>Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity.</strong>
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Am. J. Med. Genet. 24: 273-288, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3717210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3717210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3717210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320240208" target="_blank">Full Text</a>]
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Chen, H., Liu, C. T., Yang, S. S.
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<strong>Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino).</strong>
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Am. J. Med. Genet. 10: 379-394, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7036745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7036745</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7036745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320100411" target="_blank">Full Text</a>]
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Comstock, J. M., Putnam, A. R., Sangle, N., Lowichik, A., Rose, N. C., Opitz, J. M.
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<strong>Recurrence of achondrogenesis type 2 in sibs: additional evidence for germline mosaicism.</strong>
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Am. J. Med. Genet. 152A: 1822-1824, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583175</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20583175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33463" target="_blank">Full Text</a>]
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Eyre, D. R., Upton, M. P., Shapiro, F. D., Wilkinson, R. H., Vawter, G. F.
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<strong>Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.</strong>
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Am. J. Hum. Genet. 39: 52-67, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3752081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3752081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3752081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Faivre, L., Le Merrer, M., Douvier, S., Laurent, N., Thauvin-Robinet, C., Rousseau, T., Vereecke, I., Sagot, P., Delezoide, A.-L., Coucke, P., Mortier, G.
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<strong>Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.</strong>
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Am. J. Med. Genet. 126A: 308-312, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20597" target="_blank">Full Text</a>]
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Feshchenko, S. P., Rebrin, I. A., Sokolnik, V. P., Sher, B. M., Sokolov, B. P., Kalinin, V. N., Lazjuk, G. I.
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<strong>The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis.</strong>
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Hum. Genet. 82: 49-54, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2714779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2714779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2714779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00288271" target="_blank">Full Text</a>]
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Forzano, F., Lituania, M., Viassolo, V., Superti-Furga, A., Wildhardt, G., Zabel, B., Faravelli, F.
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<strong>A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father.</strong>
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Am. J. Med. Genet. 143A: 2815-2820, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32047" target="_blank">Full Text</a>]
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<a id="Fraccaro1952" class="mim-anchor"></a>
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Fraccaro, M.
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<strong>Contributo allo studio delle malattie del mesenchima osteopoietico: l'acondrogenesi.</strong>
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Folia Hered. Path. 1: 190-208, 1952.
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Godfrey, M., Hollister, D. W.
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<strong>Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.</strong>
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Am. J. Hum. Genet. 43: 904-913, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3195588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3195588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3195588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Godfrey, M., Keene, D. R., Blank, E., Hori, H., Sakai, L. Y., Sherwin, L. A., Hollister, D. W.
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<strong>Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.</strong>
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Am. J. Hum. Genet. 43: 894-903, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3057886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3057886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3057886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="13" class="mim-anchor"></a>
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<a id="Harris1972" class="mim-anchor"></a>
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<p class="mim-text-font">
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Harris, R., Patton, I. T., Barson, A. J.
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<strong>Pseudo-achondrogenesis with fractures.</strong>
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Clin. Genet. 3: 435-441, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4568361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4568361</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4568361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1972.tb01477.x" target="_blank">Full Text</a>]
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<a id="Hendrickx1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hendrickx, G., Hoefsloot, F., Kramer, P., Van Haelst, U.
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<strong>Hypochondrogenesis; an additional case.</strong>
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[<a href="https://doi.org/10.1007/BF00443377" target="_blank">Full Text</a>]
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<a id="Horton1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Horton, W. A., Machado, M. A., Chou, J. W., Campbell, D.
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<strong>Achondrogenesis type II, abnormalities of extracellular matrix.</strong>
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[<a href="https://doi.org/10.1203/00006450-198709000-00017" target="_blank">Full Text</a>]
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<a id="Houston1972" class="mim-anchor"></a>
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Houston, C. S., Awen, C. F., Kent, H. P.
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<strong>Fatal neonatal dwarfism.</strong>
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</p>
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<strong>A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-to-Arg) in the type II collagen trimer.</strong>
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[<a href="https://doi.org/10.1093/hmg/4.2.285" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000157111" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320590306" target="_blank">Full Text</a>]
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<a id="Rittler1995" class="mim-anchor"></a>
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<strong>Achondrogenesis type II with polydactyly.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8588578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320590208" target="_blank">Full Text</a>]
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<a id="Saldino1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5582025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5582025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5582025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.2214/ajr.112.1.185" target="_blank">Full Text</a>]
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<a id="Sanford1989" class="mim-anchor"></a>
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Sanford, J. A., Ellard, J., Horton, W. A.
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<strong>Type II collagen abnormalities in a bovine model of achondrogenesis type II (Langer-Saldino). (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A62 only, 1989.
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<a id="25" class="mim-anchor"></a>
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<a id="Spranger1974" class="mim-anchor"></a>
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<div class="">
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Spranger, J. W., Langer, L. O., Jr., Wiedemann, H.-R.
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<strong>Bone Dysplasias. An Atlas of Constitutional Disorders of Skeletal Development.</strong>
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<a id="26" class="mim-anchor"></a>
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<a id="Spranger1985" class="mim-anchor"></a>
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<strong>Pattern recognition in bone dysplasias. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Endocrine Genetics and Genetics of Growth.</strong>
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<a id="27" class="mim-anchor"></a>
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<a id="Stanescu1977" class="mim-anchor"></a>
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Stanescu, V., Stanescu, R., Maroteaux, P.
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<strong>Etude morphologique et biochimique du cartilage de croissance dans les osteochondrodysplasies.</strong>
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</p>
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<a id="Superti-Furga1996" class="mim-anchor"></a>
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<div class="">
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<strong>Achondrogenesis 1B.</strong>
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[<a href="https://doi.org/10.1136/jmg.33.11.957" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Superti-Furga1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Superti-Furga, A.
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<strong>Personal Communication.</strong>
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Zurich, Switzerland 7/5/1996.
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<a id="30" class="mim-anchor"></a>
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<a id="Vissing1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vissing, H., D'Alessio, M., Lee, B., Ramirez, F., Godfrey, M., Hollister, D. W.
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<strong>Glycine to serine substitution in the triple helical domain of pro-alpha-1(II) collagen results in a lethal perinatal form of short-limbed dwarfism.</strong>
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</p>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Whitley1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Whitley, C. B., Gorlin, R. J.
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<strong>Achondrogenesis: new nosology with evidence of genetic heterogeneity.</strong>
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[<a href="https://doi.org/10.1148/radiology.148.3.6878687" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/28/2010
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 1/22/2010<br>Kelly A. Przylepa - updated : 4/11/2008<br>Victor A. McKusick - updated : 4/14/2004<br>Alan F. Scott - updated : 12/13/1995
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</span>
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Creation Date:
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Victor A. McKusick : 6/2/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 06/22/2023
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carol : 06/21/2023<br>carol : 11/02/2022<br>alopez : 09/27/2022<br>carol : 01/22/2020<br>carol : 01/21/2020<br>carol : 09/07/2016<br>carol : 03/09/2015<br>mcolton : 3/4/2015<br>carol : 3/8/2011<br>carol : 3/4/2011<br>wwang : 11/10/2010<br>ckniffin : 10/28/2010<br>ckniffin : 10/28/2010<br>terry : 5/20/2010<br>terry : 5/20/2010<br>wwang : 1/25/2010<br>terry : 1/22/2010<br>alopez : 7/16/2009<br>carol : 2/3/2009<br>carol : 2/3/2009<br>carol : 4/11/2008<br>alopez : 4/19/2004<br>terry : 4/14/2004<br>carol : 11/24/1998<br>alopez : 6/10/1997<br>jamie : 10/23/1996<br>jamie : 10/16/1996<br>mark : 9/26/1996<br>mark : 9/18/1996<br>terry : 9/17/1996<br>mark : 1/16/1996<br>terry : 1/11/1996<br>terry : 1/5/1996<br>mark : 12/20/1995<br>terry : 12/13/1995<br>mimadm : 11/12/1995<br>mark : 7/26/1995<br>carol : 1/23/1995<br>terry : 4/21/1994<br>warfield : 4/14/1994<br>carol : 3/26/1992
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<span class="mim-font">
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<strong>#</strong> 200610
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<h3>
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<span class="mim-font">
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ACHONDROGENESIS, TYPE II; ACG2
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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ACHONDROGENESIS, LANGER-SALDINO TYPE<br />
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CHONDROGENESIS IMPERFECTA<br />
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ACHONDROGENESIS, TYPE IB, FORMERLY
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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HYPOCHONDROGENESIS, INCLUDED
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<strong>SNOMEDCT:</strong> 254061001;
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<strong>ORPHA:</strong> 93296, 93297, 932;
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<strong>DO:</strong> 0080056;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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12q13.11
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<span class="mim-font">
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Achondrogenesis, type II or hypochondrogenesis
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<span class="mim-font">
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200610
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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COL2A1
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<td>
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<span class="mim-font">
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120140
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that achondrogenesis type II (ACG2) is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of achondrogenesis, see ACG1A (200600).</p>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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<span class="mim-text-font">
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<p>Achondrogenesis type II (ACG2) is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. ACG2 is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Spranger et al. (1974) distinguished 2 forms of achondrogenesis, which they called types I and II. Type I was subdivided into type IA (200600) and IB (600972). In type I, the ribs tend to be thin, often with multiple fractures. This finding led Harris et al. (1972) to refer to it as pseudoachondrogenesis with fractures. Indeed, it might be confused with the broad-bone form of osteogenesis imperfecta (166210). Type II achondrogenesis is characterized by virtual absence of ossification in the vertebral column, sacrum and pubic bones. Saldino (1971) reported on this form. In both forms the trunk is short with prominent abdomen and hydropic appearance. Micromelia is striking. In both, death occurs in utero or the early neonatal period. </p><p>Chen et al. (1981) reported 2 cases and reviewed reported cases in extenso. As compared with type I, the cases of type II, or Langer-Saldino type, showed fewer stillbirths, longer survival, longer gestational period, larger size of baby, longer limbs, and characteristic craniofacial features (prominent forehead, flat face, micrognathia). </p><p>Spranger (1985) introduced the concept of 'bone dysplasia families' as exemplified by the similar pattern of radiographically demonstrated skeletal abnormalities, called dysostosis multiplex, produced by a variety of lysosomal storage diseases. The concept postulates that the developing skeleton reacts in a stereotypic fashion to heterogeneous disturbances of a single metabolic pathway. Spranger (1985) defined one such family as consisting of type II achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita, the 3 disorders constituting a spectrum of decreasing severity. This family of disorders may be etiologically more intimately related than are the various conditions that produce dysostosis multiplex, since there is evidence of abnormality of type II collagen in SED congenita (Murray and Rimoin, 1988). </p><p>Hypochondrogenesis (Hendrickx et al., 1983) may bear the same relationship to achondrogenesis that hypochondroplasia does to achondroplasia, i.e., it may be an allelic variant. Stanescu et al. (1977) described 3 cases and introduced the term hypochondrogenesis. Borochowitz et al. (1986) favored the view that hypochondrogenesis and achondrogenesis of the Langer-Saldino type are part of the spectrum of severity of the same disorder. Maroteaux et al. (1991) reiterated the view that hypochondrogenesis is an allelic form of the Langer-Saldino type of achondrogenesis, a conclusion that is probably supported by the finding of abnormalities of type II collagen in these cases. </p><p>Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. As in achondrogenesis type II, all cases represent de novo autosomal dominant mutations in the COL2A1 gene.</p>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a case of lethal short-limbed dwarfism, Eyre et al. (1986) found that the cartilage in all sites had an abnormal gelatinous texture and translucent appearance. No type II collagen was detected at any site; type I was the predominant collagen present. However, cartilage-specific proteoglycans appeared to be abundant. Eyre et al. (1986) suggested that chondrogenesis imperfecta might be a satisfactory designation. </p><p>Horton et al. (1987) studied growth cartilage in 7 cases of what they designated achondrogenesis type II. The normal architecture of the epiphyseal and growth plate cartilage was replaced by morphologically heterogeneous tissue. Some areas were composed of vascular canals surrounded by extensive fibrous tissue and enlarged cells that had the appearance and histochemical characteristics of hypertrophic chondrocytes. Other areas contained a mixture of cells ranging from small to enlarged chondrocytes. Extracellular matrix in the latter area was more abundant than in the former and had characteristics of both precartilage mesenchymal matrix and typical cartilage matrix; it contained types I and II collagen and other constituents. Peptide mapping of cyanogen bromide cartilage collagen peptides revealed the presence of types I and II collagen. These observations might indicate a defect in the biosynthesis of type II collagen or in chondrocyte differentiation. </p><p>Godfrey et al. (1988) described the clinical, radiographic, histologic, and ultrastructural abnormalities in a mild case of type II achondrogenesis-hypochondrogenesis fitting the classification criteria of Whitley-Gorlin prototype IV (Whitley and Gorlin, 1983). Immunohistochemical studies using a monoclonal antibody against type II collagen showed intense staining of small, rounded-to-oval structures within chondrocytes, strongly suggesting intracellular accumulation of this collagen type, probably in the distended cisternae of the rough endoplasmic reticulum observed in all chondrocytes by electron-microscopic studies. These observations raised the possibility of an abnormal type II collagen produced by, and accumulating within, chondrocytes. Godfrey and Hollister (1988) presented evidence that the patient they studied was heterozygous for an abnormal pro-alpha-1 (II) chain which impaired the assembly and/or folding of type II collagen. </p><p>Feshchenko et al. (1989) described absence of type II collagen and a quantitative and qualitative change in proteoglycans in hyaline cartilage of the ribs and knee joint in a stillborn female with type II achondrogenesis. As they pointed out, studies in both parents would help in connection with the question of whether this represented homozygosity for a mutation located in the COL2A1 gene. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Other Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Potocki et al. (1995) reported defects in cardiac septation in 2 infants with hypochondrogenesis. One infant had a complete AV canal defect. The second had a secundum type atrial septal defect. Potocki et al. (1995) raised the question whether type II collagen may function in human cardiogenesis even though it is not detected in myocardium. </p><p>Rittler and Orioli (1995) described postaxial polydactyly of the feet in a severely affected newborn with achondrogenesis type II. The possibility that it represented a contiguous gene syndrome due to a deletion on chromosome 12 was raised. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Faivre et al. (2004) reported the recurrence of achondrogenesis type II in 2 successive pregnancies of a healthy, nonconsanguineous young couple. In the second fetus a G316D mutation in the COL2A1 gene (120140.0038) was detected. A heterozygous mutation was not found in either parent. Faivre et al. (2004) concluded that recurrence was due to germline mosaicism in 1 parent. </p><p>Forzano et al. (2007) reported another family with recurrence of achondrogenesis type II in 3 fetuses. Genetic analysis provided proof of somatic mosaicism for a COL2A1 mutation in the father (G346V; 120140.0053). </p><p>Comstock et al. (2010) reported another family in which 2 fetuses had achondrogenesis type II. Molecular analysis confirmed a heterozygous mutation in the COL2A1 gene in the second affected fetus, but molecular studies could not be completed on the first fetus. Neither parent was affected, although the father reportedly was born with clubfoot. The parents had 6 healthy term gestations and 1 spontaneous first-trimester loss. Overall, the findings suggested germline mosaicism, which increased the recurrence risk from background risk in this family. </p>
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</span>
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<div>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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<span class="mim-text-font">
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<p>In the patient with type II achondrogenesis-hypochondrogenesis reported by Godfrey and Hollister (1988), Vissing et al. (1989) demonstrated heterozygosity for a missense mutation in the COL2A1 gene (120140.0002). </p><p>In an infant with a severe form of skeletal dysplasia who required continuous respiratory support until his death at 3 months of age, Bogaert et al. (1992) demonstrated a missense mutation in the COL2A1 gene (120140.0009). </p><p>Mortier et al. (1995) described a missense mutation in the COL2A1 gene (120140.0022) resulting in achondrogenesis type II. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>Early editions of OMIM had designated type II achondrogenesis as type IB and had incorrectly cataloged it as an autosomal recessive disorder.</p><p><strong><em>Achondrogenesis Types III and IV</em></strong></p><p>
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On radiologic grounds, Whitley and Gorlin (1983) identified 4 subtypes of achondrogenesis. Their achondrogenesis type I was the Parenti-Fraccaro type, called type I in other classifications; however, they divided the classic type II (Langer-Saldino type) into 3 types called II, III, and IV. They introduced the 'femoral cylinder index,' or CI(femur): length/width. Their types I and II have the same CI(femur), namely 1.0 to 2.8, and both have crenated ilia and stellate long bones, but multiple rib fractures, characteristic of type I, are not found in type II. Type III has unfractured ribs, halberd ilia, mushroom-stem long bones, and a CI(femur) of 2.8 to 4.9. Type IV has unfractured ribs, sculpted ilia, well-developed long bones, and a CI(femur) of 4.9 to 8.0. Whitley and Gorlin (1983) suggested that 'achondrogenesis type IV...should be considered synonymous with hypochondrogenesis until there are sufficient criteria to distinguish the suspected genetic heterogeneity.' In a survey of lethal osteochondrodysplasias in the county of Fyn (Funen), Denmark, Andersen (1989) identified new cases of type III achondrogenesis. </p><p>Superti-Furga (1996) stated that the radiologic classification devised by Whitley and Gorlin (1983) did not prove helpful and was abandoned. </p>
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<span class="mim-text-font">
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<p>On histologic grounds, the bulldog calf appears to be an authentic model of the Langer-Saldino type of achondrogenesis. Abnormalities of type II collagen were demonstrated by Sanford et al. (1989), although no abnormality of the COL2A1 gene or its mRNA transcripts could be demonstrated.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Fraccaro (1952); Houston et al. (1972); Parenti (1936)
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Andersen, P. E., Jr.
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<strong>Prevalence of lethal osteochondrodysplasias in Denmark.</strong>
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Am. J. Med. Genet. 32: 484-489, 1989.
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[PubMed: 2789000]
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