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<title>
Entry
- #207410 - ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2
- OMIM
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<span class="h4">#207410</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/207410"><strong>Clinical Synopsis</strong></a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES DISORDERED STEROIDOGENESIS) OR (FGFR2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=29762&Typ=Pat" title="Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Antley-Bixler syndrome wit…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1391&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Antley-Bixler syndrome&nbsp;</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=596008" title="Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Antley-Bixler syndrome wit…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Antley-Bixler syndrome</a></div>
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0081290" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/207410" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0081290" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:207410" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 62964007<br />
<strong>ORPHA:</strong> 596008, 83<br />
<strong>DO:</strong> 0081290<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
207410
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME<br />
MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES<br />
OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/618?start=-3&limit=10&highlight=618">
10q26.13
</a>
</span>
</td>
<td>
<span class="mim-font">
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/207410"> 207410 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
FGFR2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176943"> 176943 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/207410" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<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/207410" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/207410" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Brachycephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13649004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13649004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221356</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Brachycephaly-Large-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Large anterior fontanel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866134</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Long philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dysplastic ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span><br /> -
Stenotic external auditory canals <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/301061006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">301061006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0395837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0395837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000402</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Proptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Proptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Depressed nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Choanal atresia or choanal stenosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011943&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011943</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Airways </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Upper airway obstruction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740852&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740852</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002781" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002781</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002781" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002781</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow chest <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249671009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249671009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Craniosynostosis, coronal and lambdoidal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859757</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow pelvis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848103</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003275" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003275</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003275" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003275</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Radiohumeral synostosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859758</a>]</span><br /> -
Femoral bowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859461</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002980</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002980</a>]</span><br /> -
Neonatal femoral fractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859759&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859759</a>]</span><br /> -
Ulnar bowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003031" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003031</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003031" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003031</a>]</span><br /> -
Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Arachnodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>]</span><br /> -
Camptodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29271008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29271008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221369</a>, <a href="https://bioportal.bioontology.org/search?q=C0685409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Camptodactyly-large-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Rocker-bottom feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205082007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205082007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001838" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001838</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001838" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001838</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Variable mental retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859755</a>]</span><br /> -
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br />
</span>
</div>
</div>
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</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Early death often due to respiratory complications<br /> -
For a similar phenotype with genital anomalies and disordered steroidogenesis see POR deficiency (<a href="/entry/201750">201750</a>)<br />
</span>
</div>
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<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2, <a href="/entry/176943#0002">176943.0002</a>)<br />
</span>
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<p>A number sign (#) is used with this entry because of evidence that the exclusively skeletal form of Antley-Bixler syndrome is caused by heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2 (<a href="/entry/176943">176943</a>), on chromosome 10q26.</p><p>A form of Antley-Bixler syndrome that includes disordered steroidogenesis (ABS1; <a href="/entry/201750">201750</a>) is caused by mutation in the gene encoding cytochrome P450 oxidoreductase (POR; <a href="/entry/124015">124015</a>).</p>
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<p>The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by <a href="#19" class="mim-tip-reference" title="McGlaughlin, K. L., Witherow, H., Dunaway, D. J., David, D. J., Anderson, P. J. &lt;strong&gt;Spectrum of Antley-Bixler syndrome.&lt;/strong&gt; J. Craniofac. Surg. 21: 1560-1564, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20818252/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20818252&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/SCS.0b013e3181ec6afe&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20818252">McGlaughlin et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Antley, R. M., Bixler, D. &lt;strong&gt;Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(2): 397-401, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1227559/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1227559&lt;/a&gt;]" pmid="1227559">Antley and Bixler (1975)</a> described a child with 'trapezoidocephaly,' midface hypoplasia, humeroradial synostosis, bowing of femora, fractures and other abnormalities. <a href="#19" class="mim-tip-reference" title="McGlaughlin, K. L., Witherow, H., Dunaway, D. J., David, D. J., Anderson, P. J. &lt;strong&gt;Spectrum of Antley-Bixler syndrome.&lt;/strong&gt; J. Craniofac. Surg. 21: 1560-1564, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20818252/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20818252&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/SCS.0b013e3181ec6afe&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20818252">McGlaughlin et al. (2010)</a> noted that <a href="#17" class="mim-tip-reference" title="Lacheretz, M., Walbaum, R., Tourgis, C. &lt;strong&gt;L&#x27;acrocephalosynankie: a propos d&#x27;une observation avec synostoses multiples.&lt;/strong&gt; Pediatrie 39: 169-177, 1974."None>Lacheretz et al. (1974)</a> had reported features suggestive of the same disorder in a 10-year-old boy, issue of a consanguineous marriage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20818252+1227559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="DeLozier, C. D., Antley, R. M., Williams, R., Green, N., Heller, R. M., Bixler, D., Engel, E. &lt;strong&gt;The syndrome of multisynostotic osteodysgenesis with long-bone fractures.&lt;/strong&gt; Am. J. Med. Genet. 7: 391-403, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7468663/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7468663&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320070322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7468663">DeLozier et al. (1980)</a> described 2 unrelated female children with the same syndrome: craniosynostosis with midface hypoplasia resulting in typical facial appearance and ears; radiohumeral synostosis and bowing of the femora with neonatal femoral fractures. Although the differential diagnosis included campomelic syndrome (see <a href="/entry/114290">114290</a>), osteogenesis imperfecta (see <a href="/entry/166200">166200</a>), and certain of the acrocephalosyndactyly syndromes (see <a href="/entry/101200">101200</a>), the disorder appeared to be unique. <a href="#8" class="mim-tip-reference" title="DeLozier, C. D., Antley, R. M., Williams, R., Green, N., Heller, R. M., Bixler, D., Engel, E. &lt;strong&gt;The syndrome of multisynostotic osteodysgenesis with long-bone fractures.&lt;/strong&gt; Am. J. Med. Genet. 7: 391-403, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7468663/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7468663&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320070322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7468663">DeLozier et al. (1980)</a> proposed the designation multisynostotic osteodysgenesis. <a href="#9" class="mim-tip-reference" title="DeLozier-Blanchet, C. D. &lt;strong&gt;Antley-Bixler syndrome from a prognostic perspective. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 32: 262-263, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2929666/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2929666&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320227&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2929666">DeLozier-Blanchet (1989)</a> provided useful follow-up information on 1 of the patients reported by <a href="#8" class="mim-tip-reference" title="DeLozier, C. D., Antley, R. M., Williams, R., Green, N., Heller, R. M., Bixler, D., Engel, E. &lt;strong&gt;The syndrome of multisynostotic osteodysgenesis with long-bone fractures.&lt;/strong&gt; Am. J. Med. Genet. 7: 391-403, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7468663/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7468663&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320070322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7468663">DeLozier et al. (1980)</a>. The patient's primary difficulties during the first decade of life resulted from joint limitations. Radiohumeral synostosis recurred after surgery at 6 months; eating and other everyday tasks were difficult. She had moderate camptodactyly of the hands, particularly at the metacarpal-phalangeal joints, and some restriction of knee movement. A pear-shaped nose was treated by plastic surgery. Intelligence was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7468663+2929666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Schinzel, A., Savoldelli, G., Briner, J., Sigg, P., Massini, C. &lt;strong&gt;Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus.&lt;/strong&gt; Am. J. Med. Genet. 14: 139-147, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6829602/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6829602&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320140119&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6829602">Schinzel et al. (1983)</a> described 2 affected sisters: a newborn who died at 14 days of respiratory failure, and a fetus from a subsequent pregnancy in which the diagnosis was made in utero by ultrasonography. They described the features as craniosynostosis of coronal and lambdoidal sutures; brachycephaly; frontal bossing; severe midface hypoplasia with proptosis and choanal stenosis or atresia; humeroradial synostosis; medial bowing of ulnas; long, slender fingers with camptodactyly; narrow iliac wings; anterior bowing of femurs; and malformations of the heart and kidneys. Their proband did not have connatal fractures as did the first 2 cases but she did have vaginal atresia. <a href="#21" class="mim-tip-reference" title="Robinson, L. K., Powers, N. G., Dunklee, P., Sherman, S., Jones, K. L. &lt;strong&gt;The Antley-Bixler syndrome.&lt;/strong&gt; J. Pediat. 101: 201-205, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7097411/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7097411&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(82)80117-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7097411">Robinson et al. (1982)</a> reported 3 sporadic cases. <a href="#24" class="mim-tip-reference" title="Yasui, Y., Yamaguchi, A., Itoh, Y., Ueke, T., Sugiyama, K., Wada, Y. &lt;strong&gt;The first case of the Antley-Bixler syndrome with consanguinity in Japan.&lt;/strong&gt; Jpn. J. Hum. Genet. 28: 215-220, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6672365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6672365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01876602&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6672365">Yasui et al. (1983)</a> reported an affected female with consanguineous parents. <a href="#23" class="mim-tip-reference" title="Suzuki, K., Kanda, Y., Sugiyama, K., Katoh, T., Wada, Y., Yasui, Y. &lt;strong&gt;Antley-Bixler syndrome in a sister and brother.&lt;/strong&gt; Jpn. J. Hum. Genet. 32: 247-252, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3448306/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3448306&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01876879&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3448306">Suzuki et al. (1987)</a> described this syndrome in a brother and sister with first-cousin parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6829602+3448306+6672365+7097411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Escobar, L. F., Bixler, D., Sadove, M., Bull, M. J. &lt;strong&gt;Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 29: 829-836, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3041834/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3041834&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290412&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3041834">Escobar et al. (1988)</a> described a child followed over a period of 3 years. In addition to craniosynostosis, the patient had radiohumeral synostosis, femoral bowing, and multiple joint contractures. <a href="#10" class="mim-tip-reference" title="Escobar, L. F., Bixler, D., Sadove, M., Bull, M. J. &lt;strong&gt;Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 29: 829-836, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3041834/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3041834&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290412&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3041834">Escobar et al. (1988)</a> provided a flow chart for management of patients with ABS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3041834" 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="#14" class="mim-tip-reference" title="Hassell, S., Butler, M. G. &lt;strong&gt;Antley-Bixler syndrome: a report of a patient and review of literature.&lt;/strong&gt; Clin. Genet. 46: 372-376, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7889649/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7889649&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=7889649[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1994.tb04182.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7889649">Hassell and Butler (1994)</a> reported a patient and reviewed 13 previously reported cases. The cardinal features included craniosynostosis, severe midface hypoplasia, proptosis, choanal atresia/stenosis, frontal bossing, dysplastic ears, depressed nasal bridge, radiohumeral synostosis, long bone fractures and femoral bowing, and urogenital abnormalities. Early death, usually due to respiratory complications, occurred in 54% of reported cases. The oldest patient was 10 years old at the time of follow-up. Since some patients had normal intelligence, it is likely that brain development is normal if craniectomy is performed to treat sutural synostosis and if secondary factors, such as apnea, are avoided. Choanal stenting during infancy may be important to decrease airway obstruction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7889649" 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="#11" class="mim-tip-reference" title="Feigin, E., Udassin, R., Seror, D., Szold, A., Ben Neriah, Z., Glick, B. &lt;strong&gt;Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21.&lt;/strong&gt; Clin. Genet. 47: 53-55, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7774045/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7774045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1995.tb03922.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7774045">Feigin et al. (1995)</a> reported an infant, born to consanguineous parents, with the typical features of Antley-Bixler syndrome in addition to esophageal atresia and trisomy 21 (<a href="/entry/190685">190685</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7774045" 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="#7" class="mim-tip-reference" title="Crisponi, G., Porcu, C., Piu, M. E. &lt;strong&gt;Antley-Bixler syndrome: case report and review of the literature.&lt;/strong&gt; Clin. Dysmorph. 6: 61-68, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9018420/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9018420&lt;/a&gt;]" pmid="9018420">Crisponi et al. (1997)</a> stated that since the first report by <a href="#1" class="mim-tip-reference" title="Antley, R. M., Bixler, D. &lt;strong&gt;Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(2): 397-401, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1227559/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1227559&lt;/a&gt;]" pmid="1227559">Antley and Bixler (1975)</a> at least 23 cases had been reported. They reported an affected infant who died a few days after birth of respiratory failure. Unlike previously described cases, the elbow joint contracture was due to radioulnar synostosis rather than radiohumeral synostosis. The infant did not have long bone fractures, and the femurs were not markedly bowed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9018420+1227559" 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="#3" class="mim-tip-reference" title="Chabchoub, A., Siala-Gaigi, S., Marrakchi, Z., Jebnoun, S., Ayachi, R., Khrouf, N. &lt;strong&gt;The Antley-Bixler syndrome: a new case without radiohumeral synostosis.&lt;/strong&gt; Genet. Counsel. 9: 113-118, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9664207/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9664207&lt;/a&gt;]" pmid="9664207">Chabchoub et al. (1998)</a> reported a female infant with bilateral coronal craniosynostosis, craniolacunia, profound midface hypoplasia, arachnodactyly and camptodactyly of fingers and toes, multiple joint contractures, and abnormal bowing of the radius and ulna without radiohumeral synostosis. The child died at 1 year of age after multiple respiratory infections, due to malnutrition and major neurologic deterioration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9664207" 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="#19" class="mim-tip-reference" title="McGlaughlin, K. L., Witherow, H., Dunaway, D. J., David, D. J., Anderson, P. J. &lt;strong&gt;Spectrum of Antley-Bixler syndrome.&lt;/strong&gt; J. Craniofac. Surg. 21: 1560-1564, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20818252/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20818252&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/SCS.0b013e3181ec6afe&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20818252">McGlaughlin et al. (2010)</a> noted that craniosynostosis and radiohumeral synostosis present from the perinatal period are generally considered to be the minimum criteria for a diagnosis of Antley-Bixler syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818252" 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>Prenatal Diagnosis</em></strong></p><p>
<a href="#18" class="mim-tip-reference" title="LeHeup, B. P., Masutti, J. P., Droulle, P., Tisserand, J. &lt;strong&gt;The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.&lt;/strong&gt; Europ. J. Pediat. 154: 130-133, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7720741/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7720741&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01991916&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7720741">LeHeup et al. (1995)</a> reported affected sibs. In the first case, renal agenesis was recognized prenatally when oligohydramnios led to the sonographic diagnosis of absent kidneys during the seventh month. Clinical features were recognized by ultrasonography at 21 weeks in the second case. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7720741" 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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<div>
<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p><a href="#20" class="mim-tip-reference" title="Reardon, W., Smith, A., Honour, J. W., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., Kumar, D., DeLozier-Blanchet, C., McKee, S., Kelly, T., McKeehan, W. L., Baraitser, M., Winter, R. M. &lt;strong&gt;Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?&lt;/strong&gt; J. Med. Genet. 37: 26-32, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10633130/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10633130&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.1.26&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10633130">Reardon et al. (2000)</a> confirmed autosomal dominant inheritance of Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10633130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p><a href="#5" class="mim-tip-reference" title="Chun, K., Siegel-Bartelt, J., Chitayat, D., Phillips, J., Ray, P. N. &lt;strong&gt;FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.&lt;/strong&gt; Am. J. Med. Genet. 77: 219-224, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9605588/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9605588&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19980518)77:3&lt;219::aid-ajmg6&gt;3.0.co;2-k&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9605588">Chun et al. (1998)</a> reported a patient with clinical manifestations that they considered consistent with Antley-Bixler syndrome who carried a ser351-to-cys (S351C; <a href="/entry/176943#0024">176943.0024</a>) mutation on one allele of the FGFR2 gene. <a href="#5" class="mim-tip-reference" title="Chun, K., Siegel-Bartelt, J., Chitayat, D., Phillips, J., Ray, P. N. &lt;strong&gt;FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.&lt;/strong&gt; Am. J. Med. Genet. 77: 219-224, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9605588/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9605588&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19980518)77:3&lt;219::aid-ajmg6&gt;3.0.co;2-k&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9605588">Chun et al. (1998)</a> suggested that the Antley-Bixler syndrome is an autosomal dominant condition with possible gonadal mosaicism, or that alternatively, an autosomal dominant form and an autosomal recessive form of ABS may exist. They further suggested that FGFR mutations should be sought in other craniosynostosis patients with elbow synostosis. <a href="#12" class="mim-tip-reference" title="Gorlin, R. J. &lt;strong&gt;Patient described by Chun et al. may not present Antley-Bixler syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 83: 64 only, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10076886/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10076886&lt;/a&gt;]" pmid="10076886">Gorlin (1999)</a> and <a href="#13" class="mim-tip-reference" title="Gripp, K. W., Zackai, E. H., Cohen, M. M., Jr. &lt;strong&gt;Not Antley-Bixler syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 83: 65-66, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10076887/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10076887&lt;/a&gt;]" pmid="10076887">Gripp et al. (1999)</a> refuted the clinical diagnosis of Antley-Bixler syndrome and suggested that the patient had a nonspecific craniosynostosis syndrome. <a href="#4" class="mim-tip-reference" title="Chitayat, D., Chun, K. &lt;strong&gt;Reply to the letter to the editor by Gripp et al.--&#x27;not Antley-Bixler syndrome&#x27;. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 83: 67-68, 1999."None>Chitayat and Chun (1999)</a> in response reiterated the importance of seeking a mutation in the FGFR2 gene, and expressed the wish that authors of previously reported cases of Antley-Bixler syndrome would perform DNA analysis of the FGFR2 gene and publish the results in order to clarify the inheritance of ABS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9605588+10076886+10076887" 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 3 patients with ABS, <a href="#20" class="mim-tip-reference" title="Reardon, W., Smith, A., Honour, J. W., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., Kumar, D., DeLozier-Blanchet, C., McKee, S., Kelly, T., McKeehan, W. L., Baraitser, M., Winter, R. M. &lt;strong&gt;Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?&lt;/strong&gt; J. Med. Genet. 37: 26-32, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10633130/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10633130&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.1.26&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10633130">Reardon et al. (2000)</a> identified the S351C substitution in the FGFR2 gene. The patients all had normal-appearing genitalia, and the steroid profile was normal in the 2 patients in whom it was carried out. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10633130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Van Vliet, G., Sack, J., Fluck, C. E., Miller, W. L. &lt;strong&gt;Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.&lt;/strong&gt; Am. J. Hum. Genet. 76: 729-749, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15793702/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15793702&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15793702[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/429417&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15793702">Huang et al. (2005)</a> sequenced the cytochrome P450 reductase gene (POR; <a href="/entry/124015">124015</a>) and exons 8 and 10 of the FGFR2 gene in 29 individuals diagnosed with Antley-Bixler syndrome with or without hormonal findings suggesting POR deficiency and found that POR and FGFR2 mutations segregated completely. In 15 patients, POR mutations were found on both alleles; in 4, mutations were found on only 1 allele; 6 carried FGFR2 mutations; and 4 patients carried no mutations. One patient, who had previously been found to have a mutation in the FGFR1 gene (<a href="/entry/136350#0011">136350.0011</a>) by <a href="#16" class="mim-tip-reference" title="Hurley, M. E., White, M. J., Green, A. J., Kelleher, J. &lt;strong&gt;Antley-Bixler syndrome with radioulnar synostosis.&lt;/strong&gt; Pediat. Radiol. 34: 148-151, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14513299/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14513299&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00247-003-1066-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14513299">Hurley et al. (2004)</a>, was found to be a compound heterozygote for mutations in the POR gene as well. <a href="#15" class="mim-tip-reference" title="Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Van Vliet, G., Sack, J., Fluck, C. E., Miller, W. L. &lt;strong&gt;Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.&lt;/strong&gt; Am. J. Hum. Genet. 76: 729-749, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15793702/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15793702&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15793702[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/429417&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15793702">Huang et al. (2005)</a> concluded that individuals with an ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and disordered steroidogenesis should be recognized as having a distinct new disease: POR deficiency (<a href="/entry/201750">201750</a>). The existence of 2 distinct disorders was first suggested by <a href="#20" class="mim-tip-reference" title="Reardon, W., Smith, A., Honour, J. W., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., Kumar, D., DeLozier-Blanchet, C., McKee, S., Kelly, T., McKeehan, W. L., Baraitser, M., Winter, R. M. &lt;strong&gt;Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?&lt;/strong&gt; J. Med. Genet. 37: 26-32, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10633130/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10633130&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.1.26&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10633130">Reardon et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10633130+15793702+14513299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Antley1983" class="mim-tip-reference" title="Antley, R. M., Bixler, D. &lt;strong&gt;Development in the trapezoidocephaly-multiple synostosis syndrome. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 14: 149-150, 1983.">Antley and Bixler (1983)</a>; <a href="#Cohen1979" class="mim-tip-reference" title="Cohen, M. M. &lt;strong&gt;Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XV(5B): 13-63, 1979.">Cohen (1979)</a>
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<p class="mim-text-font">
Antley, R. M., Bixler, D.
<strong>Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.</strong>
Birth Defects Orig. Art. Ser. XI(2): 397-401, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1227559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1227559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1227559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<li>
<a id="2" class="mim-anchor"></a>
<a id="Antley1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Antley, R. M., Bixler, D.
<strong>Development in the trapezoidocephaly-multiple synostosis syndrome. (Editorial)</strong>
Am. J. Med. Genet. 14: 149-150, 1983.
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[<a href="https://doi.org/10.1002/ajmg.1320140120" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Chabchoub1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chabchoub, A., Siala-Gaigi, S., Marrakchi, Z., Jebnoun, S., Ayachi, R., Khrouf, N.
<strong>The Antley-Bixler syndrome: a new case without radiohumeral synostosis.</strong>
Genet. Counsel. 9: 113-118, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9664207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9664207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9664207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<li>
<a id="4" class="mim-anchor"></a>
<a id="Chitayat1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chitayat, D., Chun, K.
<strong>Reply to the letter to the editor by Gripp et al.--'not Antley-Bixler syndrome'. (Letter)</strong>
Am. J. Med. Genet. 83: 67-68, 1999.
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<li>
<a id="5" class="mim-anchor"></a>
<a id="Chun1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chun, K., Siegel-Bartelt, J., Chitayat, D., Phillips, J., Ray, P. N.
<strong>FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.</strong>
Am. J. Med. Genet. 77: 219-224, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9605588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9605588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9605588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19980518)77:3&lt;219::aid-ajmg6&gt;3.0.co;2-k" target="_blank">Full Text</a>]
</p>
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<a id="Cohen1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cohen, M. M.
<strong>Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating.</strong>
Birth Defects Orig. Art. Ser. XV(5B): 13-63, 1979.
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</p>
</div>
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<a id="7" class="mim-anchor"></a>
<a id="Crisponi1997" class="mim-anchor"></a>
<div class="">
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Crisponi, G., Porcu, C., Piu, M. E.
<strong>Antley-Bixler syndrome: case report and review of the literature.</strong>
Clin. Dysmorph. 6: 61-68, 1997.
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</p>
</div>
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<li>
<a id="8" class="mim-anchor"></a>
<a id="DeLozier1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
DeLozier, C. D., Antley, R. M., Williams, R., Green, N., Heller, R. M., Bixler, D., Engel, E.
<strong>The syndrome of multisynostotic osteodysgenesis with long-bone fractures.</strong>
Am. J. Med. Genet. 7: 391-403, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7468663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7468663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7468663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320070322" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="DeLozier-Blanchet1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
DeLozier-Blanchet, C. D.
<strong>Antley-Bixler syndrome from a prognostic perspective. (Letter)</strong>
Am. J. Med. Genet. 32: 262-263, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2929666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2929666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2929666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320320227" target="_blank">Full Text</a>]
</p>
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<a id="Escobar1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Escobar, L. F., Bixler, D., Sadove, M., Bull, M. J.
<strong>Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature.</strong>
Am. J. Med. Genet. 29: 829-836, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3041834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3041834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3041834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320290412" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Feigin1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Feigin, E., Udassin, R., Seror, D., Szold, A., Ben Neriah, Z., Glick, B.
<strong>Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21.</strong>
Clin. Genet. 47: 53-55, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7774045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7774045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7774045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03922.x" target="_blank">Full Text</a>]
</p>
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<a id="Gorlin1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gorlin, R. J.
<strong>Patient described by Chun et al. may not present Antley-Bixler syndrome. (Letter)</strong>
Am. J. Med. Genet. 83: 64 only, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10076886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10076886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10076886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Gripp1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gripp, K. W., Zackai, E. H., Cohen, M. M., Jr.
<strong>Not Antley-Bixler syndrome. (Letter)</strong>
Am. J. Med. Genet. 83: 65-66, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10076887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10076887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10076887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="Hassell1994" class="mim-anchor"></a>
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<p class="mim-text-font">
Hassell, S., Butler, M. G.
<strong>Antley-Bixler syndrome: a report of a patient and review of literature.</strong>
Clin. Genet. 46: 372-376, 1994.
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[<a href="https://doi.org/10.1111/j.1399-0004.1994.tb04182.x" target="_blank">Full Text</a>]
</p>
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<a id="Huang2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Van Vliet, G., Sack, J., Fluck, C. E., Miller, W. L.
<strong>Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.</strong>
Am. J. Hum. Genet. 76: 729-749, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15793702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15793702</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15793702[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=15793702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/429417" target="_blank">Full Text</a>]
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<a id="Hurley2004" class="mim-anchor"></a>
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Hurley, M. E., White, M. J., Green, A. J., Kelleher, J.
<strong>Antley-Bixler syndrome with radioulnar synostosis.</strong>
Pediat. Radiol. 34: 148-151, 2004.
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[<a href="https://doi.org/10.1007/s00247-003-1066-7" target="_blank">Full Text</a>]
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<a id="Lacheretz1974" class="mim-anchor"></a>
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Lacheretz, M., Walbaum, R., Tourgis, C.
<strong>L'acrocephalosynankie: a propos d'une observation avec synostoses multiples.</strong>
Pediatrie 39: 169-177, 1974.
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<a id="LeHeup1995" class="mim-anchor"></a>
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<p class="mim-text-font">
LeHeup, B. P., Masutti, J. P., Droulle, P., Tisserand, J.
<strong>The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.</strong>
Europ. J. Pediat. 154: 130-133, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7720741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7720741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7720741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01991916" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
<a id="McGlaughlin2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McGlaughlin, K. L., Witherow, H., Dunaway, D. J., David, D. J., Anderson, P. J.
<strong>Spectrum of Antley-Bixler syndrome.</strong>
J. Craniofac. Surg. 21: 1560-1564, 2010.
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[<a href="https://doi.org/10.1097/SCS.0b013e3181ec6afe" target="_blank">Full Text</a>]
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<a id="Reardon2000" class="mim-anchor"></a>
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Reardon, W., Smith, A., Honour, J. W., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., Kumar, D., DeLozier-Blanchet, C., McKee, S., Kelly, T., McKeehan, W. L., Baraitser, M., Winter, R. M.
<strong>Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?</strong>
J. Med. Genet. 37: 26-32, 2000.
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[<a href="https://doi.org/10.1136/jmg.37.1.26" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Robinson1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Robinson, L. K., Powers, N. G., Dunklee, P., Sherman, S., Jones, K. L.
<strong>The Antley-Bixler syndrome.</strong>
J. Pediat. 101: 201-205, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7097411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7097411</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7097411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(82)80117-0" target="_blank">Full Text</a>]
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<a id="Schinzel1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schinzel, A., Savoldelli, G., Briner, J., Sigg, P., Massini, C.
<strong>Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus.</strong>
Am. J. Med. Genet. 14: 139-147, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6829602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6829602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6829602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320140119" target="_blank">Full Text</a>]
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<a id="Suzuki1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Suzuki, K., Kanda, Y., Sugiyama, K., Katoh, T., Wada, Y., Yasui, Y.
<strong>Antley-Bixler syndrome in a sister and brother.</strong>
Jpn. J. Hum. Genet. 32: 247-252, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3448306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3448306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3448306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01876879" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
<a id="Yasui1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yasui, Y., Yamaguchi, A., Itoh, Y., Ueke, T., Sugiyama, K., Wada, Y.
<strong>The first case of the Antley-Bixler syndrome with consanguinity in Japan.</strong>
Jpn. J. Hum. Genet. 28: 215-220, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6672365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6672365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6672365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01876602" target="_blank">Full Text</a>]
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Victor A. McKusick - updated : 11/17/2005<br>Marla J. F. O'Neill - updated : 11/11/2005<br>Marla J. F. O'Neill - updated : 8/30/2005<br>Victor A. McKusick - updated : 6/8/2005<br>Marla J. F. O'Neill - updated : 9/24/2004<br>Victor A. McKusick - updated : 2/13/2004<br>Deborah L. Stone - updated : 9/27/2002<br>Victor A. McKusick - updated : 12/11/2000<br>Ada Hamosh - updated : 4/19/1999<br>Victor A. McKusick - updated : 2/6/1997
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 12/10/2024
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<strong>#</strong> 207410
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<span class="mim-font">
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2
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<em>Alternative titles; symbols</em>
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TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME<br />
MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES<br />
OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
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<strong>SNOMEDCT:</strong> 62964007; &nbsp;
<strong>ORPHA:</strong> 596008, 83; &nbsp;
<strong>DO:</strong> 0081290; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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10q26.13
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Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
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207410
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Autosomal dominant
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3
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FGFR2
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176943
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that the exclusively skeletal form of Antley-Bixler syndrome is caused by heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2 (176943), on chromosome 10q26.</p><p>A form of Antley-Bixler syndrome that includes disordered steroidogenesis (ABS1; 201750) is caused by mutation in the gene encoding cytochrome P450 oxidoreductase (POR; 124015).</p>
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<strong>Description</strong>
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<p>The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010). </p>
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<strong>Clinical Features</strong>
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<p>Antley and Bixler (1975) described a child with 'trapezoidocephaly,' midface hypoplasia, humeroradial synostosis, bowing of femora, fractures and other abnormalities. McGlaughlin et al. (2010) noted that Lacheretz et al. (1974) had reported features suggestive of the same disorder in a 10-year-old boy, issue of a consanguineous marriage. </p><p>DeLozier et al. (1980) described 2 unrelated female children with the same syndrome: craniosynostosis with midface hypoplasia resulting in typical facial appearance and ears; radiohumeral synostosis and bowing of the femora with neonatal femoral fractures. Although the differential diagnosis included campomelic syndrome (see 114290), osteogenesis imperfecta (see 166200), and certain of the acrocephalosyndactyly syndromes (see 101200), the disorder appeared to be unique. DeLozier et al. (1980) proposed the designation multisynostotic osteodysgenesis. DeLozier-Blanchet (1989) provided useful follow-up information on 1 of the patients reported by DeLozier et al. (1980). The patient's primary difficulties during the first decade of life resulted from joint limitations. Radiohumeral synostosis recurred after surgery at 6 months; eating and other everyday tasks were difficult. She had moderate camptodactyly of the hands, particularly at the metacarpal-phalangeal joints, and some restriction of knee movement. A pear-shaped nose was treated by plastic surgery. Intelligence was normal. </p><p>Schinzel et al. (1983) described 2 affected sisters: a newborn who died at 14 days of respiratory failure, and a fetus from a subsequent pregnancy in which the diagnosis was made in utero by ultrasonography. They described the features as craniosynostosis of coronal and lambdoidal sutures; brachycephaly; frontal bossing; severe midface hypoplasia with proptosis and choanal stenosis or atresia; humeroradial synostosis; medial bowing of ulnas; long, slender fingers with camptodactyly; narrow iliac wings; anterior bowing of femurs; and malformations of the heart and kidneys. Their proband did not have connatal fractures as did the first 2 cases but she did have vaginal atresia. Robinson et al. (1982) reported 3 sporadic cases. Yasui et al. (1983) reported an affected female with consanguineous parents. Suzuki et al. (1987) described this syndrome in a brother and sister with first-cousin parents. </p><p>Escobar et al. (1988) described a child followed over a period of 3 years. In addition to craniosynostosis, the patient had radiohumeral synostosis, femoral bowing, and multiple joint contractures. Escobar et al. (1988) provided a flow chart for management of patients with ABS. </p><p>Hassell and Butler (1994) reported a patient and reviewed 13 previously reported cases. The cardinal features included craniosynostosis, severe midface hypoplasia, proptosis, choanal atresia/stenosis, frontal bossing, dysplastic ears, depressed nasal bridge, radiohumeral synostosis, long bone fractures and femoral bowing, and urogenital abnormalities. Early death, usually due to respiratory complications, occurred in 54% of reported cases. The oldest patient was 10 years old at the time of follow-up. Since some patients had normal intelligence, it is likely that brain development is normal if craniectomy is performed to treat sutural synostosis and if secondary factors, such as apnea, are avoided. Choanal stenting during infancy may be important to decrease airway obstruction. </p><p>Feigin et al. (1995) reported an infant, born to consanguineous parents, with the typical features of Antley-Bixler syndrome in addition to esophageal atresia and trisomy 21 (190685). </p><p>Crisponi et al. (1997) stated that since the first report by Antley and Bixler (1975) at least 23 cases had been reported. They reported an affected infant who died a few days after birth of respiratory failure. Unlike previously described cases, the elbow joint contracture was due to radioulnar synostosis rather than radiohumeral synostosis. The infant did not have long bone fractures, and the femurs were not markedly bowed. </p><p>Chabchoub et al. (1998) reported a female infant with bilateral coronal craniosynostosis, craniolacunia, profound midface hypoplasia, arachnodactyly and camptodactyly of fingers and toes, multiple joint contractures, and abnormal bowing of the radius and ulna without radiohumeral synostosis. The child died at 1 year of age after multiple respiratory infections, due to malnutrition and major neurologic deterioration. </p>
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<strong>Diagnosis</strong>
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<p>McGlaughlin et al. (2010) noted that craniosynostosis and radiohumeral synostosis present from the perinatal period are generally considered to be the minimum criteria for a diagnosis of Antley-Bixler syndrome. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
LeHeup et al. (1995) reported affected sibs. In the first case, renal agenesis was recognized prenatally when oligohydramnios led to the sonographic diagnosis of absent kidneys during the seventh month. Clinical features were recognized by ultrasonography at 21 weeks in the second case. </p>
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<strong>Inheritance</strong>
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<p>Reardon et al. (2000) confirmed autosomal dominant inheritance of Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. </p>
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<strong>Molecular Genetics</strong>
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<p>Chun et al. (1998) reported a patient with clinical manifestations that they considered consistent with Antley-Bixler syndrome who carried a ser351-to-cys (S351C; 176943.0024) mutation on one allele of the FGFR2 gene. Chun et al. (1998) suggested that the Antley-Bixler syndrome is an autosomal dominant condition with possible gonadal mosaicism, or that alternatively, an autosomal dominant form and an autosomal recessive form of ABS may exist. They further suggested that FGFR mutations should be sought in other craniosynostosis patients with elbow synostosis. Gorlin (1999) and Gripp et al. (1999) refuted the clinical diagnosis of Antley-Bixler syndrome and suggested that the patient had a nonspecific craniosynostosis syndrome. Chitayat and Chun (1999) in response reiterated the importance of seeking a mutation in the FGFR2 gene, and expressed the wish that authors of previously reported cases of Antley-Bixler syndrome would perform DNA analysis of the FGFR2 gene and publish the results in order to clarify the inheritance of ABS. </p><p>In 3 patients with ABS, Reardon et al. (2000) identified the S351C substitution in the FGFR2 gene. The patients all had normal-appearing genitalia, and the steroid profile was normal in the 2 patients in whom it was carried out. </p><p>Huang et al. (2005) sequenced the cytochrome P450 reductase gene (POR; 124015) and exons 8 and 10 of the FGFR2 gene in 29 individuals diagnosed with Antley-Bixler syndrome with or without hormonal findings suggesting POR deficiency and found that POR and FGFR2 mutations segregated completely. In 15 patients, POR mutations were found on both alleles; in 4, mutations were found on only 1 allele; 6 carried FGFR2 mutations; and 4 patients carried no mutations. One patient, who had previously been found to have a mutation in the FGFR1 gene (136350.0011) by Hurley et al. (2004), was found to be a compound heterozygote for mutations in the POR gene as well. Huang et al. (2005) concluded that individuals with an ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and disordered steroidogenesis should be recognized as having a distinct new disease: POR deficiency (201750). The existence of 2 distinct disorders was first suggested by Reardon et al. (2000). </p>
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<span class="mim-font">
<strong>See Also:</strong>
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<span class="mim-text-font">
Antley and Bixler (1983); Cohen (1979)
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<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Antley, R. M., Bixler, D.
<strong>Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.</strong>
Birth Defects Orig. Art. Ser. XI(2): 397-401, 1975.
[PubMed: 1227559]
</p>
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<li>
<p class="mim-text-font">
Antley, R. M., Bixler, D.
<strong>Development in the trapezoidocephaly-multiple synostosis syndrome. (Editorial)</strong>
Am. J. Med. Genet. 14: 149-150, 1983.
[PubMed: 6829603]
[Full Text: https://doi.org/10.1002/ajmg.1320140120]
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<li>
<p class="mim-text-font">
Chabchoub, A., Siala-Gaigi, S., Marrakchi, Z., Jebnoun, S., Ayachi, R., Khrouf, N.
<strong>The Antley-Bixler syndrome: a new case without radiohumeral synostosis.</strong>
Genet. Counsel. 9: 113-118, 1998.
[PubMed: 9664207]
</p>
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<li>
<p class="mim-text-font">
Chitayat, D., Chun, K.
<strong>Reply to the letter to the editor by Gripp et al.--&#x27;not Antley-Bixler syndrome&#x27;. (Letter)</strong>
Am. J. Med. Genet. 83: 67-68, 1999.
</p>
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<li>
<p class="mim-text-font">
Chun, K., Siegel-Bartelt, J., Chitayat, D., Phillips, J., Ray, P. N.
<strong>FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.</strong>
Am. J. Med. Genet. 77: 219-224, 1998.
[PubMed: 9605588]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980518)77:3&lt;219::aid-ajmg6&gt;3.0.co;2-k]
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<li>
<p class="mim-text-font">
Cohen, M. M.
<strong>Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating.</strong>
Birth Defects Orig. Art. Ser. XV(5B): 13-63, 1979.
[PubMed: 393319]
</p>
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<li>
<p class="mim-text-font">
Crisponi, G., Porcu, C., Piu, M. E.
<strong>Antley-Bixler syndrome: case report and review of the literature.</strong>
Clin. Dysmorph. 6: 61-68, 1997.
[PubMed: 9018420]
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<li>
<p class="mim-text-font">
DeLozier, C. D., Antley, R. M., Williams, R., Green, N., Heller, R. M., Bixler, D., Engel, E.
<strong>The syndrome of multisynostotic osteodysgenesis with long-bone fractures.</strong>
Am. J. Med. Genet. 7: 391-403, 1980.
[PubMed: 7468663]
[Full Text: https://doi.org/10.1002/ajmg.1320070322]
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<p class="mim-text-font">
DeLozier-Blanchet, C. D.
<strong>Antley-Bixler syndrome from a prognostic perspective. (Letter)</strong>
Am. J. Med. Genet. 32: 262-263, 1989.
[PubMed: 2929666]
[Full Text: https://doi.org/10.1002/ajmg.1320320227]
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Escobar, L. F., Bixler, D., Sadove, M., Bull, M. J.
<strong>Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature.</strong>
Am. J. Med. Genet. 29: 829-836, 1988.
[PubMed: 3041834]
[Full Text: https://doi.org/10.1002/ajmg.1320290412]
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<li>
<p class="mim-text-font">
Feigin, E., Udassin, R., Seror, D., Szold, A., Ben Neriah, Z., Glick, B.
<strong>Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21.</strong>
Clin. Genet. 47: 53-55, 1995.
[PubMed: 7774045]
[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb03922.x]
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<li>
<p class="mim-text-font">
Gorlin, R. J.
<strong>Patient described by Chun et al. may not present Antley-Bixler syndrome. (Letter)</strong>
Am. J. Med. Genet. 83: 64 only, 1999.
[PubMed: 10076886]
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<li>
<p class="mim-text-font">
Gripp, K. W., Zackai, E. H., Cohen, M. M., Jr.
<strong>Not Antley-Bixler syndrome. (Letter)</strong>
Am. J. Med. Genet. 83: 65-66, 1999.
[PubMed: 10076887]
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<li>
<p class="mim-text-font">
Hassell, S., Butler, M. G.
<strong>Antley-Bixler syndrome: a report of a patient and review of literature.</strong>
Clin. Genet. 46: 372-376, 1994.
[PubMed: 7889649]
[Full Text: https://doi.org/10.1111/j.1399-0004.1994.tb04182.x]
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<li>
<p class="mim-text-font">
Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Van Vliet, G., Sack, J., Fluck, C. E., Miller, W. L.
<strong>Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.</strong>
Am. J. Hum. Genet. 76: 729-749, 2005.
[PubMed: 15793702]
[Full Text: https://doi.org/10.1086/429417]
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Hurley, M. E., White, M. J., Green, A. J., Kelleher, J.
<strong>Antley-Bixler syndrome with radioulnar synostosis.</strong>
Pediat. Radiol. 34: 148-151, 2004.
[PubMed: 14513299]
[Full Text: https://doi.org/10.1007/s00247-003-1066-7]
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<li>
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Lacheretz, M., Walbaum, R., Tourgis, C.
<strong>L&#x27;acrocephalosynankie: a propos d&#x27;une observation avec synostoses multiples.</strong>
Pediatrie 39: 169-177, 1974.
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<p class="mim-text-font">
LeHeup, B. P., Masutti, J. P., Droulle, P., Tisserand, J.
<strong>The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.</strong>
Europ. J. Pediat. 154: 130-133, 1995.
[PubMed: 7720741]
[Full Text: https://doi.org/10.1007/BF01991916]
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<p class="mim-text-font">
McGlaughlin, K. L., Witherow, H., Dunaway, D. J., David, D. J., Anderson, P. J.
<strong>Spectrum of Antley-Bixler syndrome.</strong>
J. Craniofac. Surg. 21: 1560-1564, 2010.
[PubMed: 20818252]
[Full Text: https://doi.org/10.1097/SCS.0b013e3181ec6afe]
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<p class="mim-text-font">
Reardon, W., Smith, A., Honour, J. W., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., Kumar, D., DeLozier-Blanchet, C., McKee, S., Kelly, T., McKeehan, W. L., Baraitser, M., Winter, R. M.
<strong>Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?</strong>
J. Med. Genet. 37: 26-32, 2000.
[PubMed: 10633130]
[Full Text: https://doi.org/10.1136/jmg.37.1.26]
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<li>
<p class="mim-text-font">
Robinson, L. K., Powers, N. G., Dunklee, P., Sherman, S., Jones, K. L.
<strong>The Antley-Bixler syndrome.</strong>
J. Pediat. 101: 201-205, 1982.
[PubMed: 7097411]
[Full Text: https://doi.org/10.1016/s0022-3476(82)80117-0]
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<li>
<p class="mim-text-font">
Schinzel, A., Savoldelli, G., Briner, J., Sigg, P., Massini, C.
<strong>Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus.</strong>
Am. J. Med. Genet. 14: 139-147, 1983.
[PubMed: 6829602]
[Full Text: https://doi.org/10.1002/ajmg.1320140119]
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<li>
<p class="mim-text-font">
Suzuki, K., Kanda, Y., Sugiyama, K., Katoh, T., Wada, Y., Yasui, Y.
<strong>Antley-Bixler syndrome in a sister and brother.</strong>
Jpn. J. Hum. Genet. 32: 247-252, 1987.
[PubMed: 3448306]
[Full Text: https://doi.org/10.1007/BF01876879]
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<li>
<p class="mim-text-font">
Yasui, Y., Yamaguchi, A., Itoh, Y., Ueke, T., Sugiyama, K., Wada, Y.
<strong>The first case of the Antley-Bixler syndrome with consanguinity in Japan.</strong>
Jpn. J. Hum. Genet. 28: 215-220, 1983.
[PubMed: 6672365]
[Full Text: https://doi.org/10.1007/BF01876602]
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Contributors:
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Anne M. Stumpf - reorganized : 9/24/2010<br>Victor A. McKusick - updated : 11/17/2005<br>Marla J. F. O&#x27;Neill - updated : 11/11/2005<br>Marla J. F. O&#x27;Neill - updated : 8/30/2005<br>Victor A. McKusick - updated : 6/8/2005<br>Marla J. F. O&#x27;Neill - updated : 9/24/2004<br>Victor A. McKusick - updated : 2/13/2004<br>Deborah L. Stone - updated : 9/27/2002<br>Victor A. McKusick - updated : 12/11/2000<br>Ada Hamosh - updated : 4/19/1999<br>Victor A. McKusick - updated : 2/6/1997
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Victor A. McKusick : 6/3/1986
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