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<title>
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Entry
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- #601216 - DENTAL ANOMALIES AND SHORT STATURE; DASS
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- OMIM
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<span class="h4">#601216</span>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="http://www.informatics.jax.org/disease/601216" 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/OMIA002485/" 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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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 716195006<br />
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<strong>ORPHA:</strong> 2899<br />
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<strong>DO:</strong> 0090143<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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601216
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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DENTAL ANOMALIES AND SHORT STATURE; DASS
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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VERLOES-BOURGUIGNON SYNDROME; VBS<br />
|
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PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA<br />
|
|
TOOTH AGENESIS, SELECTIVE, 6, FORMERLY; STHAG6, FORMERLY
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
|
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<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/595?start=-3&limit=10&highlight=595">
|
|
11q13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dental anomalies and short stature
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601216"> 601216 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
LTBP3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602090"> 602090 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/601216" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601216" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601216" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</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> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Maxillary hypoplasia (in some patients) <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
|
|
Mandibular prognathism (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Oligodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/787414001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">787414001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082304</a>, <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span><br /> -
|
|
Amelogenesis imperfecta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78494001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78494001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002452</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000705" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000705</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000705" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000705</a>]</span><br /> -
|
|
Small teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32337007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32337007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240340</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span><br /> -
|
|
Yellow teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235356</a>]</span><br /> -
|
|
Widely spaced teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844813</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000687</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000687</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5df0e44305e6ff6a9784b3b2408e902a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Teeth,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5df0e44305e6ff6a9784b3b2408e902a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Severely reduced to absent enamel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230711</a>]</span><br /> -
|
|
Large pulp chambers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230710</a>]</span><br /> -
|
|
Taurodontic molars <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227440</a>]</span><br /> -
|
|
Recurrent dental infections/abscesses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230709</a>]</span><br /> -
|
|
Total absence of permanent teeth (in family A) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230708</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mitral valve prolapse (in family A) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br /> -
|
|
Mild mitral insufficiency (in family A) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230702&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230702</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48724000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48724000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001653</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Aortic root dilation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866956</a>]</span><br /> -
|
|
Aneurysm of ascending aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425963007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425963007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0856747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856747</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004970</a>]</span><br /> -
|
|
Dissection of ascending aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233996000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233996000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I71.010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71.010</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836653</a>, <a href="https://bioportal.bioontology.org/search?q=C0340646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340646</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004933" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004933</a>]</span><br /> -
|
|
Aneurysm of aortic arch <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/712578006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">712578006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0856748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005113</a>]</span><br /> -
|
|
Aneurysm of descending aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/426948001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">426948001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0856750&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856750</a>]</span><br /> -
|
|
Dissection of descending aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27651000146102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27651000146102</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I71.012" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71.012</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2062864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2062864</a>]</span><br /> -
|
|
Aneurysm of abdominal aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233985008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233985008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162871</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005112" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005112</a>]</span><br /> -
|
|
Aneurysm of visceral arteries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35239001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35239001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0264968&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264968</a>]</span><br /> -
|
|
Aneurysm of peripheral arteries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29721000119101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29721000119101</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1112413&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1112413</a>]</span><br /> -
|
|
Tortuosity of cervical arteries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4692691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4692691</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>
|
|
<span class="mim-font">
|
|
|
|
- Delayed bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123983008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123983008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Platyspondyly (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844704</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span><br /> -
|
|
Thick, short pedicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832595</a>]</span><br /> -
|
|
Narrow intervertebral spaces <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11301007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11301007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263870</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002945</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002945</a>]</span><br /> -
|
|
Posterior scalloping <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832596</a>]</span><br /> -
|
|
Herniated intervertebral nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832597&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832597</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008441" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008441</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008441" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008441</a>]</span><br /> -
|
|
Narrow interpedicular space <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008450" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008450</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008450" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008450</a>]</span><br /> -
|
|
Scoliosis of variable severity (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230706</a>]</span><br /> -
|
|
Indentations of upper and lower vertebral endplates (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230705</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertrichosis (in family A) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29966009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29966009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271607001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271607001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000998" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000998</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000998" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000998</a>]</span><br />
|
|
|
|
</span>
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- Caused by mutation in the latent transforming growth factor beta binding protein-3 gene (LTBP3, <a href="/entry/602090#0001">602090.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that dental anomalies and short stature (DASS) is caused by homozygous or compound heterozygous mutation in the LTBP3 gene (<a href="/entry/602090">602090</a>) on chromosome 11q13.</p>
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<p>Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (<a href="#4" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al., 2015</a>). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (<a href="#2" class="mim-tip-reference" title="Dugan, S. L., Temme, R. T., Olson, R. A., Mikhailov, A., Law, R., Mahmood, H., Noor, A., Vincent, J. B. <strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong> Am. J. Med. Genet. 167A: 1396-1399, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25899461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25899461</a>] [<a href="https://doi.org/10.1002/ajmg.a.37049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25899461">Dugan et al., 2015</a>; <a href="#3" class="mim-tip-reference" title="Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M. <strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 102: 706-712, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29625025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29625025</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29625025">Guo et al., 2018</a>). Inter- and intrafamilial variability has been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25899461+25669657+29625025" 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="#6" class="mim-tip-reference" title="Verloes, A., Jamblin, P., Koulischer, L., Bourguignon, J.-P. <strong>A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.</strong> Clin. Genet. 49: 2-5, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8721563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8721563</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb04315.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8721563">Verloes et al. (1996)</a> described an apparently 'new' form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly in a brother and sister born of consanguineous parents. Hallmarks were amelogenesis imperfecta (absence of the enamel cap) associated with short trunk and brachyolmia-like anomalies (platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping, herniation of the nuclei, and broad femoral necks). Inheritance appeared to be autosomal recessive. The girl was 141 cm tall at age 16, with an arm span of 142 cm, a sitting height of 72 cm, and short hands. She was completely edentulous, all teeth having to be removed within a year of eruption. At the age of 12 years, the brother was 133 cm tall with sitting height of 63 cm and arm span of 134 cm. The permanent teeth were yellowish and almost completely lacking in enamel cap. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8721563" 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="#1" class="mim-tip-reference" title="Bertola, D. R., Antequera, R., Rodovalho, M. J., Honjo, R. S., Albano, L. M. J., Furquim, I. M., Oliveira, L. A., Kim, C. A. <strong>Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.</strong> Am. J. Med. Genet. 149A: 532-534, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19213025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19213025</a>] [<a href="https://doi.org/10.1002/ajmg.a.32661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19213025">Bertola et al. (2009)</a> described 3 affected patients (2 sibs and 1 unrelated patient), from consanguineous matings, presenting with brachyolmia with enamel defects. In the first family, the older brother had oligodontia and enamel hypoplasia; the younger brother had widely spaced permanent teeth, enamel hypoplasia, agenesis of both inferior second premolars and retention of their deciduous. In the second family, the patient had retarded eruption of permanent teeth, amelogenesis imperfecta, and taurodontic pulp chambers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19213025" 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="Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B. <strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong> Am. J. Hum. Genet. 84: 519-523, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344874">Noor et al. (2009)</a> reported a consanguineous Pakistani family in which 5 sibs had selective tooth agenesis characterized by absence of many of the permanent teeth. Two affected males were examined in detail. Radiographs showed apparent congenital oligodontia, with absence of 23 permanent teeth in the more severely affected brother, and absence of 18 permanent teeth in the other affected brother. Fully formed impacted upper third molars were identified bilaterally, and fully formed unerupted unilateral lower second and third molars were seen; no completely or incompletely formed impacted nonmolar teeth were noted. Alveolar bone was absent where the teeth were missing, an area encompassing most of the mandible. Radiographic studies and dual-energy x-ray absorptiometry (DEXA) suggested that affected individuals had a higher bone mineral density in the spine, as well as an increase in bone density at the base of the skull, compared to unaffected individuals. There was apparent prognathism on lateral skull film (Figure 1). Affected individuals also had short stature with varying degrees of scoliosis, although the relationship of this finding to the genotype was unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344874" 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="#2" class="mim-tip-reference" title="Dugan, S. L., Temme, R. T., Olson, R. A., Mikhailov, A., Law, R., Mahmood, H., Noor, A., Vincent, J. B. <strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong> Am. J. Med. Genet. 167A: 1396-1399, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25899461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25899461</a>] [<a href="https://doi.org/10.1002/ajmg.a.37049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25899461">Dugan et al. (2015)</a> reported 2 sisters of Emirati origin who had 'small and decayed' deciduous teeth, over which crowns were placed when neither had eruption of permanent teeth. Both girls had short stature, and neither responded to growth hormone (GH1; <a href="/entry/139250">139250</a>) administration. Both were diagnosed with mitral valve prolapse (MVP) in childhood, and follow-up echocardiography in the teenage years showed MVP with mild insufficiency in both. Other features included hypertrichosis, especially on the back, and short first metatarsals; the older sister exhibited arachnodactyly and swan-neck deformity of the fingers on extension, whereas the younger sister had the swan-neck deformity without arachnodactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25899461" 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="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> studied 2 sisters, born of consanguineous Turkish parents, who presented with amelogenesis imperfecta and short stature. Examination revealed facial dysmorphism, including large forehead, thick eyebrows, and almond-shaped eyes, as well as myopia and learning difficulties. Skeletal x-rays showed platyspondyly with indentations of both upper and lower vertebral endplates (brachyolmia), but there were no signs of a generalized skeletal dysplasia, and bone age was normal. Orodental evaluation revealed nearly complete absence of enamel in both primary and permanent dentitions. Teeth were yellow, small, and widely spaced, and several teeth had been extracted due to recurrent infection. On orthopantomogram, no enamel was seen, pulp chambers were large, and molars were taurodontic. Lateral skull x-rays showed somewhat thickened cortical plates of the frontal bone with absence of pneumatization of the frontal and sphenoid sinuses, as well as class III mandibular prognathism, due to maxillary underdevelopment. <a href="#4" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> also studied patients from 3 more families with amelogenesis imperfecta, short stature, and variable platyspondyly, including a patient originally reported by <a href="#1" class="mim-tip-reference" title="Bertola, D. R., Antequera, R., Rodovalho, M. J., Honjo, R. S., Albano, L. M. J., Furquim, I. M., Oliveira, L. A., Kim, C. A. <strong>Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.</strong> Am. J. Med. Genet. 149A: 532-534, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19213025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19213025</a>] [<a href="https://doi.org/10.1002/ajmg.a.32661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19213025">Bertola et al. (2009)</a>. Delayed tooth eruption and missing teeth were each noted in 1 family, respectively, and patients in 1 family also exhibited osteopenia and scoliosis. <a href="#4" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> noted that the published skull x-ray of 1 of the Pakistani family members with selective tooth agenesis studied by <a href="#5" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B. <strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong> Am. J. Hum. Genet. 84: 519-523, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344874">Noor et al. (2009)</a> clearly showed absent enamel and short roots in the remaining teeth, suggesting a diagnosis of amelogenesis imperfecta. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19213025+25669657+19344874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M. <strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 102: 706-712, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29625025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29625025</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29625025">Guo et al. (2018)</a> reported 2 unrelated families with DASS and mutations in the LTBP3 gene (see MOLECULAR GENETICS), in which affected individuals also exhibited thoracic and abdominal aortic aneurysms. In the first family (family TAA909), the proband was a 54-year-old man with DASS and aortic root dilation, abdominal aortic aneurysm, and multiple visceral and peripheral arterial aneurysms. His 2 affected sisters had DASS with mild mitral valve prolapse, and 1 also showed mild aortic root dilation. In the second family (family TAA376), a brother and sister had DASS and aneurysm of the ascending aorta with dissection in the fourth decade of life, as well as involvement of the descending aorta. In the sister, aneurysmal disease extended to the abdominal aorta, and she also had cervical artery tortuosity, pulmonary artery dilation, other arterial aneurysms, and mitral valve disease. Their parents were unaffected, but 2 paternal aunts and 1 uncle had thoracic aortic aneurysm or dissection in the eighth and ninth decades of life, and 2 of the 3 were also known to have dental anomalies. Three other paternal relatives of that generation died suddenly of unknown cause in the sixth and seventh decades of life, one of whom had dental abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29625025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Turkish girl with amelogenesis imperfecta and short stature, <a href="#4" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> performed scanning electron microscopic analysis of the enamel structure of an affected permanent tooth, which showed very thin or absent enamel with normal dentin. The initial aprismatic enamel layer was absent, and a very thin shell of irregular prismatic enamel covered the dentin scaffold. A Hunter-Schreger band pattern of enamel prisms was present in this layer, without deposition of an aprismatic outer layer. In some areas, however, amelogenesis continued, and 'bubbling' of nonprismatic enamel occurred on top of the basal enamel layer, with alternating waves of aprismatic and prismatic enamel; the outermost layer was always aprismatic in areas where enamel formation continued. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25669657" 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="#1" class="mim-tip-reference" title="Bertola, D. R., Antequera, R., Rodovalho, M. J., Honjo, R. S., Albano, L. M. J., Furquim, I. M., Oliveira, L. A., Kim, C. A. <strong>Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.</strong> Am. J. Med. Genet. 149A: 532-534, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19213025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19213025</a>] [<a href="https://doi.org/10.1002/ajmg.a.32661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19213025">Bertola et al. (2009)</a> suggested autosomal recessive inheritance of this disorder because of consanguinity and a negative family history for any bone or dental abnormalities in their families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19213025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous Pakistani family segregating autosomal recessive selective tooth agenesis and short stature, in which mutation in the MSX1 (<a href="/entry/142983">142983</a>) and PAX9 (<a href="/entry/167416">167416</a>) genes had been excluded, <a href="#5" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B. <strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong> Am. J. Hum. Genet. 84: 519-523, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344874">Noor et al. (2009)</a> performed genomewide linkage analysis and microsatellite marker genotyping. The authors identified a 28-Mb autozygous region spanning the centromere of chromosome 11 that was shared among the 4 affected sibs but not among unaffected members of the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous Pakistani family with selective tooth agenesis and short stature mapping to chromosome 11, <a href="#5" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B. <strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong> Am. J. Hum. Genet. 84: 519-523, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344874">Noor et al. (2009)</a> performed candidate gene sequencing and identified a homozygous nonsense mutation in the LTBP3 gene (Y744X; <a href="/entry/602090#0001">602090.0001</a>). The mutation, which segregated with disease in the family, was not found in 240 Pakistani controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344874" 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 2 Emirati sisters with complete agenesis of permanent dentition and short stature, <a href="#2" class="mim-tip-reference" title="Dugan, S. L., Temme, R. T., Olson, R. A., Mikhailov, A., Law, R., Mahmood, H., Noor, A., Vincent, J. B. <strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong> Am. J. Med. Genet. 167A: 1396-1399, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25899461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25899461</a>] [<a href="https://doi.org/10.1002/ajmg.a.37049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25899461">Dugan et al. (2015)</a> sequenced the LTBP3 gene and identified homozygosity for a 1-bp insertion (<a href="/entry/602090#0002">602090.0002</a>), which was present in heterozygosity in their unaffected father. Their unaffected mother and brothers were unavailable for screening. <a href="#2" class="mim-tip-reference" title="Dugan, S. L., Temme, R. T., Olson, R. A., Mikhailov, A., Law, R., Mahmood, H., Noor, A., Vincent, J. B. <strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong> Am. J. Med. Genet. 167A: 1396-1399, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25899461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25899461</a>] [<a href="https://doi.org/10.1002/ajmg.a.37049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25899461">Dugan et al. (2015)</a> suggested that mitral valve prolapse, present in both sisters, might be an important clinical feature of this disorder, and noted that the Pakistani sibs studied by <a href="#5" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B. <strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong> Am. J. Hum. Genet. 84: 519-523, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344874">Noor et al. (2009)</a> did not undergo cardiac evaluation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19344874+25899461" 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 patients from 4 families with amelogenesis imperfecta, short stature, and variable degrees of platyspondyly, including a patient originally reported by <a href="#1" class="mim-tip-reference" title="Bertola, D. R., Antequera, R., Rodovalho, M. J., Honjo, R. S., Albano, L. M. J., Furquim, I. M., Oliveira, L. A., Kim, C. A. <strong>Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.</strong> Am. J. Med. Genet. 149A: 532-534, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19213025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19213025</a>] [<a href="https://doi.org/10.1002/ajmg.a.32661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19213025">Bertola et al. (2009)</a>, <a href="#4" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> performed whole-exome sequencing (WES) and identified biallelic mutations in the LTBP3 gene in all affected individuals (<a href="/entry/602090#0003">602090.0003</a>-<a href="/entry/602090#0007">602090.0007</a>). None of the mutations, which segregated with disease in the respective families, were found in the Exome Variant Server or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19213025+25669657" 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>By WES in a cohort of 271 unrelated families with aneurysms of the thoracic aorta, <a href="#3" class="mim-tip-reference" title="Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M. <strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 102: 706-712, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29625025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29625025</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29625025">Guo et al. (2018)</a> identified homozygous or compound heterozygous mutations in the LTBP3 gene (see, e.g., <a href="/entry/602090#0011">602090.0011</a>-<a href="/entry/602090#0012">602090.0012</a>) in 2 families with DASS and aortic aneurysm with or without dissection. The mutations segregated fully with disease in 1 family (family TAA909), whereas in the other family (TAA376), some heterozygous relatives exhibited aneurysmal disease at older ages, with dental anomalies reported in some of them. Evaluation of WES data in 338 sporadic patients with thoracic aortic dissections before 56 years of age, who were negative for syndromic features or mutation in known dissection-associated genes, revealed heterozygous LTBP3 rare variants in 9 patients. The authors concluded that biallelic mutations in LTBP3 are associated with risk for thoracic aortic aneurysms and dissections and other arterial aneurysms, in addition to the previously reported skeletal and dental defects, whereas heterozygous LTBP3 mutations might be associated with increased risk for later-onset thoracic aortic disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29625025" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19213025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19213025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19213025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong>
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Am. J. Med. Genet. 167A: 1396-1399, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25899461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25899461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25899461" 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.37049" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Guo2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M.
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<strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong>
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Am. J. Hum. Genet. 102: 706-712, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29625025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29625025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29625025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2018.03.002" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Huckert2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others.
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<strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong>
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Hum. Molec. Genet. 24: 3038-3049, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25669657" 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/10.1093/hmg/ddv053" target="_blank">Full Text</a>]
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<a id="Noor2009" class="mim-anchor"></a>
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<p class="mim-text-font">
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Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B.
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<strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong>
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Am. J. Hum. Genet. 84: 519-523, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.03.007" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Verloes1996" class="mim-anchor"></a>
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<p class="mim-text-font">
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Verloes, A., Jamblin, P., Koulischer, L., Bourguignon, J.-P.
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<strong>A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.</strong>
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Clin. Genet. 49: 2-5, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8721563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8721563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8721563" 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.1399-0004.1996.tb04315.x" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 05/11/2018
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 7/27/2015<br>Nara Sobreira - updated : 7/16/2010
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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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Victor A. McKusick : 4/19/1996
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joanna : 06/05/2018
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carol : 05/11/2018<br>carol : 05/02/2016<br>alopez : 7/28/2015<br>mcolton : 7/27/2015<br>carol : 7/16/2010<br>mark : 4/19/1996
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<span class="mim-font">
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<strong>#</strong> 601216
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DENTAL ANOMALIES AND SHORT STATURE; DASS
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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VERLOES-BOURGUIGNON SYNDROME; VBS<br />
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PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA<br />
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TOOTH AGENESIS, SELECTIVE, 6, FORMERLY; STHAG6, FORMERLY
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<strong>SNOMEDCT:</strong> 716195006;
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<strong>ORPHA:</strong> 2899;
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<strong>DO:</strong> 0090143;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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<span class="mim-font">
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11q13.1
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<span class="mim-font">
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Dental anomalies and short stature
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<span class="mim-font">
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601216
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<span class="mim-font">
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Autosomal recessive
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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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LTBP3
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<span class="mim-font">
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602090
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<span class="mim-font">
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<strong>TEXT</strong>
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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 dental anomalies and short stature (DASS) is caused by homozygous or compound heterozygous mutation in the LTBP3 gene (602090) on chromosome 11q13.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (Huckert et al., 2015). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (Dugan et al., 2015; Guo et al., 2018). Inter- and intrafamilial variability has been reported. </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Verloes et al. (1996) described an apparently 'new' form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly in a brother and sister born of consanguineous parents. Hallmarks were amelogenesis imperfecta (absence of the enamel cap) associated with short trunk and brachyolmia-like anomalies (platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping, herniation of the nuclei, and broad femoral necks). Inheritance appeared to be autosomal recessive. The girl was 141 cm tall at age 16, with an arm span of 142 cm, a sitting height of 72 cm, and short hands. She was completely edentulous, all teeth having to be removed within a year of eruption. At the age of 12 years, the brother was 133 cm tall with sitting height of 63 cm and arm span of 134 cm. The permanent teeth were yellowish and almost completely lacking in enamel cap. </p><p>Bertola et al. (2009) described 3 affected patients (2 sibs and 1 unrelated patient), from consanguineous matings, presenting with brachyolmia with enamel defects. In the first family, the older brother had oligodontia and enamel hypoplasia; the younger brother had widely spaced permanent teeth, enamel hypoplasia, agenesis of both inferior second premolars and retention of their deciduous. In the second family, the patient had retarded eruption of permanent teeth, amelogenesis imperfecta, and taurodontic pulp chambers. </p><p>Noor et al. (2009) reported a consanguineous Pakistani family in which 5 sibs had selective tooth agenesis characterized by absence of many of the permanent teeth. Two affected males were examined in detail. Radiographs showed apparent congenital oligodontia, with absence of 23 permanent teeth in the more severely affected brother, and absence of 18 permanent teeth in the other affected brother. Fully formed impacted upper third molars were identified bilaterally, and fully formed unerupted unilateral lower second and third molars were seen; no completely or incompletely formed impacted nonmolar teeth were noted. Alveolar bone was absent where the teeth were missing, an area encompassing most of the mandible. Radiographic studies and dual-energy x-ray absorptiometry (DEXA) suggested that affected individuals had a higher bone mineral density in the spine, as well as an increase in bone density at the base of the skull, compared to unaffected individuals. There was apparent prognathism on lateral skull film (Figure 1). Affected individuals also had short stature with varying degrees of scoliosis, although the relationship of this finding to the genotype was unclear. </p><p>Dugan et al. (2015) reported 2 sisters of Emirati origin who had 'small and decayed' deciduous teeth, over which crowns were placed when neither had eruption of permanent teeth. Both girls had short stature, and neither responded to growth hormone (GH1; 139250) administration. Both were diagnosed with mitral valve prolapse (MVP) in childhood, and follow-up echocardiography in the teenage years showed MVP with mild insufficiency in both. Other features included hypertrichosis, especially on the back, and short first metatarsals; the older sister exhibited arachnodactyly and swan-neck deformity of the fingers on extension, whereas the younger sister had the swan-neck deformity without arachnodactyly. </p><p>Huckert et al. (2015) studied 2 sisters, born of consanguineous Turkish parents, who presented with amelogenesis imperfecta and short stature. Examination revealed facial dysmorphism, including large forehead, thick eyebrows, and almond-shaped eyes, as well as myopia and learning difficulties. Skeletal x-rays showed platyspondyly with indentations of both upper and lower vertebral endplates (brachyolmia), but there were no signs of a generalized skeletal dysplasia, and bone age was normal. Orodental evaluation revealed nearly complete absence of enamel in both primary and permanent dentitions. Teeth were yellow, small, and widely spaced, and several teeth had been extracted due to recurrent infection. On orthopantomogram, no enamel was seen, pulp chambers were large, and molars were taurodontic. Lateral skull x-rays showed somewhat thickened cortical plates of the frontal bone with absence of pneumatization of the frontal and sphenoid sinuses, as well as class III mandibular prognathism, due to maxillary underdevelopment. Huckert et al. (2015) also studied patients from 3 more families with amelogenesis imperfecta, short stature, and variable platyspondyly, including a patient originally reported by Bertola et al. (2009). Delayed tooth eruption and missing teeth were each noted in 1 family, respectively, and patients in 1 family also exhibited osteopenia and scoliosis. Huckert et al. (2015) noted that the published skull x-ray of 1 of the Pakistani family members with selective tooth agenesis studied by Noor et al. (2009) clearly showed absent enamel and short roots in the remaining teeth, suggesting a diagnosis of amelogenesis imperfecta. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Guo et al. (2018) reported 2 unrelated families with DASS and mutations in the LTBP3 gene (see MOLECULAR GENETICS), in which affected individuals also exhibited thoracic and abdominal aortic aneurysms. In the first family (family TAA909), the proband was a 54-year-old man with DASS and aortic root dilation, abdominal aortic aneurysm, and multiple visceral and peripheral arterial aneurysms. His 2 affected sisters had DASS with mild mitral valve prolapse, and 1 also showed mild aortic root dilation. In the second family (family TAA376), a brother and sister had DASS and aneurysm of the ascending aorta with dissection in the fourth decade of life, as well as involvement of the descending aorta. In the sister, aneurysmal disease extended to the abdominal aorta, and she also had cervical artery tortuosity, pulmonary artery dilation, other arterial aneurysms, and mitral valve disease. Their parents were unaffected, but 2 paternal aunts and 1 uncle had thoracic aortic aneurysm or dissection in the eighth and ninth decades of life, and 2 of the 3 were also known to have dental anomalies. Three other paternal relatives of that generation died suddenly of unknown cause in the sixth and seventh decades of life, one of whom had dental abnormalities. </p>
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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>Pathogenesis</strong>
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<p>In a Turkish girl with amelogenesis imperfecta and short stature, Huckert et al. (2015) performed scanning electron microscopic analysis of the enamel structure of an affected permanent tooth, which showed very thin or absent enamel with normal dentin. The initial aprismatic enamel layer was absent, and a very thin shell of irregular prismatic enamel covered the dentin scaffold. A Hunter-Schreger band pattern of enamel prisms was present in this layer, without deposition of an aprismatic outer layer. In some areas, however, amelogenesis continued, and 'bubbling' of nonprismatic enamel occurred on top of the basal enamel layer, with alternating waves of aprismatic and prismatic enamel; the outermost layer was always aprismatic in areas where enamel formation continued. </p>
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<strong>Inheritance</strong>
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<p>Bertola et al. (2009) suggested autosomal recessive inheritance of this disorder because of consanguinity and a negative family history for any bone or dental abnormalities in their families. </p>
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<strong>Mapping</strong>
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</h4>
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<p>In a consanguineous Pakistani family segregating autosomal recessive selective tooth agenesis and short stature, in which mutation in the MSX1 (142983) and PAX9 (167416) genes had been excluded, Noor et al. (2009) performed genomewide linkage analysis and microsatellite marker genotyping. The authors identified a 28-Mb autozygous region spanning the centromere of chromosome 11 that was shared among the 4 affected sibs but not among unaffected members of the family. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a consanguineous Pakistani family with selective tooth agenesis and short stature mapping to chromosome 11, Noor et al. (2009) performed candidate gene sequencing and identified a homozygous nonsense mutation in the LTBP3 gene (Y744X; 602090.0001). The mutation, which segregated with disease in the family, was not found in 240 Pakistani controls. </p><p>In 2 Emirati sisters with complete agenesis of permanent dentition and short stature, Dugan et al. (2015) sequenced the LTBP3 gene and identified homozygosity for a 1-bp insertion (602090.0002), which was present in heterozygosity in their unaffected father. Their unaffected mother and brothers were unavailable for screening. Dugan et al. (2015) suggested that mitral valve prolapse, present in both sisters, might be an important clinical feature of this disorder, and noted that the Pakistani sibs studied by Noor et al. (2009) did not undergo cardiac evaluation. </p><p>In patients from 4 families with amelogenesis imperfecta, short stature, and variable degrees of platyspondyly, including a patient originally reported by Bertola et al. (2009), Huckert et al. (2015) performed whole-exome sequencing (WES) and identified biallelic mutations in the LTBP3 gene in all affected individuals (602090.0003-602090.0007). None of the mutations, which segregated with disease in the respective families, were found in the Exome Variant Server or 1000 Genomes Project databases. </p><p>By WES in a cohort of 271 unrelated families with aneurysms of the thoracic aorta, Guo et al. (2018) identified homozygous or compound heterozygous mutations in the LTBP3 gene (see, e.g., 602090.0011-602090.0012) in 2 families with DASS and aortic aneurysm with or without dissection. The mutations segregated fully with disease in 1 family (family TAA909), whereas in the other family (TAA376), some heterozygous relatives exhibited aneurysmal disease at older ages, with dental anomalies reported in some of them. Evaluation of WES data in 338 sporadic patients with thoracic aortic dissections before 56 years of age, who were negative for syndromic features or mutation in known dissection-associated genes, revealed heterozygous LTBP3 rare variants in 9 patients. The authors concluded that biallelic mutations in LTBP3 are associated with risk for thoracic aortic aneurysms and dissections and other arterial aneurysms, in addition to the previously reported skeletal and dental defects, whereas heterozygous LTBP3 mutations might be associated with increased risk for later-onset thoracic aortic disease. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p class="mim-text-font">
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Bertola, D. R., Antequera, R., Rodovalho, M. J., Honjo, R. S., Albano, L. M. J., Furquim, I. M., Oliveira, L. A., Kim, C. A.
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<strong>Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.</strong>
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Am. J. Med. Genet. 149A: 532-534, 2009.
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[PubMed: 19213025]
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[Full Text: https://doi.org/10.1002/ajmg.a.32661]
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</p>
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</li>
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<li>
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Dugan, S. L., Temme, R. T., Olson, R. A., Mikhailov, A., Law, R., Mahmood, H., Noor, A., Vincent, J. B.
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<strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong>
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Am. J. Med. Genet. 167A: 1396-1399, 2015.
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[PubMed: 25899461]
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[Full Text: https://doi.org/10.1002/ajmg.a.37049]
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<li>
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<p class="mim-text-font">
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Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M.
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<strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong>
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Am. J. Hum. Genet. 102: 706-712, 2018.
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[PubMed: 29625025]
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[Full Text: https://doi.org/10.1016/j.ajhg.2018.03.002]
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<li>
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<p class="mim-text-font">
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Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others.
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<strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong>
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Hum. Molec. Genet. 24: 3038-3049, 2015.
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[PubMed: 25669657]
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[Full Text: https://doi.org/10.1093/hmg/ddv053]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B.
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<strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong>
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Am. J. Hum. Genet. 84: 519-523, 2009.
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[PubMed: 19344874]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.03.007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Verloes, A., Jamblin, P., Koulischer, L., Bourguignon, J.-P.
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<strong>A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.</strong>
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Clin. Genet. 49: 2-5, 1996.
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[PubMed: 8721563]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1996.tb04315.x]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 05/11/2018<br>Marla J. F. O'Neill - updated : 7/27/2015<br>Nara Sobreira - updated : 7/16/2010
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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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Victor A. McKusick : 4/19/1996
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joanna : 06/05/2018<br>carol : 05/11/2018<br>carol : 05/02/2016<br>alopez : 7/28/2015<br>mcolton : 7/27/2015<br>carol : 7/16/2010<br>mark : 4/19/1996
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