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- #109400 - BASAL CELL NEVUS SYNDROME 1; BCNS1
- OMIM
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<span class="h4">#109400</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/109400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS109400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=BASAL CELL NEVUS SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/1bcd8729-6e52-409e-8140-7d005c98a6b9/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</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="mimAnimalModels">
<span class="panel-title">
<span class="small">
<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:0070365" 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/109400" 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://omia.org/OMIA000487/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0070365" 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">
<div style="display: table-row">
<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:109400" 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> 69408002<br />
<strong>ORPHA:</strong> 377<br />
<strong>DO:</strong> 0070365<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>
109400
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
BASAL CELL NEVUS SYNDROME 1; BCNS1
</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">
BASAL CELL NEVUS SYNDROME; BCNS<br />
GORLIN SYNDROME<br />
GORLIN-GOLTZ SYNDROME<br />
NEVOID BASAL CELL CARCINOMA SYNDROME; NBCCS<br />
MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
</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/9/331?start=-3&limit=10&highlight=331">
9q22.32
</a>
</span>
</td>
<td>
<span class="mim-font">
Basal cell nevus syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/109400"> 109400 </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">
PTCH1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601309"> 601309 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/109400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS109400" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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</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/109400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/109400" 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> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Broad facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000283</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000283</a>]</span><br /> -
Frontal and biparietal bossing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862306</a>]</span><br /> -
Mild mandibular prognathism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862307</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br /> -
Odontogenic keratocysts of jaws <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1708604&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1708604</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010603</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">
- Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Lateral displacement of the inner canthi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862309</a>]</span><br /> -
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&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 /> -
Subconjunctival epithelial cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862310</a>]</span><br /> -
Iris coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51485001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51485001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240063</a>, <a href="https://bioportal.bioontology.org/search?q=C0266551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span><br /> -
Glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br /> -
Medullated (myelinated) retinal nerve fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227461</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Broad nasal root <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849367</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<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">
- Cardiac fibroma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1096654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1096654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010617" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010617</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010617" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010617</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> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital lung cyst <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87119009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87119009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q33.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q33.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/748.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">748.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158641</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">
- Bifid ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66102006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66102006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265695</a>, <a href="https://bioportal.bioontology.org/search?q=C4721788&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721788</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000902</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000892</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000892</a>]</span><br /> -
Synostotic ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862302&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862302</a>]</span><br /> -
Hypoplastic ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249696007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249696007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Lymphomesenteric cysts, often calcified <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862303</a>]</span><br /> -
Hamartomatous stomach polyps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/724524006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">724524006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004795" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004795</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004795" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004795</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ovarian fibromata <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254865006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254865006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149951&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149951</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010618</a>]</span><br /> -
Ovarian carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363443007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363443007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254849005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254849005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C56" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C56</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/183.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">183.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4721610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721610</a>, <a href="https://bioportal.bioontology.org/search?q=C1140680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1140680</a>, <a href="https://bioportal.bioontology.org/search?q=C0346161&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0346161</a>, <a href="https://bioportal.bioontology.org/search?q=C0029925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100615</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0025318" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025318</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025318" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025318</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br /> -
Abnormal cervical vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862311</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">
- Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br /> -
Short 4th metacarpal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010044" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010044</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010044" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010044</a>]</span><br /> -
Short thumb terminal phalanx <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862313</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009650</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Basal cell nevi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862314</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002671</a>]</span><br /> -
Basal cell carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254701007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254701007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1338007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1338007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1547219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1547219</a>, <a href="https://bioportal.bioontology.org/search?q=C4721806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721806</a>, <a href="https://bioportal.bioontology.org/search?q=C0007117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002671</a>]</span><br /> -
Pits of palms and soles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805371</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">
- Mental retardation (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Calcification of the falx cerebri <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1397139&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1397139</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005462" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005462</a>]</span><br /> -
Medulloblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156923005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443333004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443333004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002885" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002885</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Paternal age effect<br /> -
Abnormal sensitivity to therapeutic radiation<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the patched 1 gene (PTCH1, <a href="/entry/601309#0001">601309.0001</a>)<br /> -
Caused by mutation in the patched 2 gene (PTCH2, <a href="/entry/603673#0003">603673.0003</a>)<br /> -
Caused by mutation in the SUFU negative regulator of hedgehog signaling gene (SUFU, <a href="/entry/607035#0003">607035.0003</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Basal cell nevus syndrome
- <a href="/phenotypicSeries/PS109400">PS109400</a>
- 2 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/331?start=-3&limit=10&highlight=331"> 9q22.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/109400"> Basal cell nevus syndrome 1 </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>
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<a href="/entry/109400"> 109400 </a>
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<a href="/entry/601309"> PTCH1 </a>
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<a href="/entry/601309"> 601309 </a>
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<a href="/geneMap/10/521?start=-3&limit=10&highlight=521"> 10q24.32 </a>
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<a href="/entry/620343"> Basal cell nevus syndrome 2 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/620343"> 620343 </a>
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<a href="/entry/607035"> SUFU </a>
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<a href="/entry/607035"> 607035 </a>
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<p>A number sign (#) is used with this entry because basal cell nevus syndrome-1 (BCNS1) is caused by heterozygous mutation in the PTCH1 gene (<a href="/entry/601309">601309</a>) on chromosome 9q22.</p>
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<p>The basal cell nevus syndrome (BCNS) is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by <a href="#54" class="mim-tip-reference" title="Koch, C. A., Chrousos, G. P., Chandra, R., Evangelista, R. S., Gilbert, J. C., Nobuhara, K., Zhuang, Z., Vortmeyer, A. O. &lt;strong&gt;Two-hit model for tumorigenesis of nevoid basal cell carcinoma (Gorlin) syndrome-associated hepatic mesenchymal tumor. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 109: 74-76, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11932998/&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;11932998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10301&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="11932998">Koch et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11932998" 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>Genetic Heterogeneity of Basal Cell Nevus Syndrome</em></strong></p><p>
See also BCNS2, caused by mutation in the SUFU gene (<a href="/entry/607035">607035</a>) on chromosome 10q24.</p>
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<p><a href="#30" class="mim-tip-reference" title="Gorlin, R. J., Goltz, R. W. &lt;strong&gt;Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome.&lt;/strong&gt; New Eng. J. Med. 262: 908-912, 1960.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13851319/&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;13851319&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM196005052621803&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="13851319">Gorlin and Goltz (1960)</a> described a familial syndrome comprising multiple nevoid basal-cell epitheliomas, jaw cysts, and bifid rib. Inheritance was autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13851319" 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="#42" class="mim-tip-reference" title="Herzberg, J. J., Wiskemann, A. &lt;strong&gt;Die fuenfte Phakomatose. Basalzellnaevus mit familiaerer Belastung und Medulloblastom.&lt;/strong&gt; Dermatologica 126: 106-123, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13954184/&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;13954184&lt;/a&gt;]" pmid="13954184">Herzberg and Wiskemann (1963)</a> described what they termed the 'fifth phakomatosis,' basal cell nevus syndrome with medulloblastoma. They reported a family in which both father and son had basal cell nevi, with the son also having medulloblastoma and congenital thoracic scoliosis. <a href="#9" class="mim-tip-reference" title="Cawson, R. A., Kerr, G. A. &lt;strong&gt;The syndrome of jaw cysts, basal cell tumours and skeletal anomalies.&lt;/strong&gt; Proc. Roy. Soc. Med. 57: 799-801, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14208019/&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;14208019&lt;/a&gt;]" pmid="14208019">Cawson and Kerr (1964)</a> described a syndrome of jaw cysts, basal cell tumors, and skeletal abnormalities. One of the patients had astrocytoma with severe hydrocephalus. Other features included pits of the palms and soles. <a href="#60" class="mim-tip-reference" title="Lile, H. A., Rogers, J. F., Gerald, B. &lt;strong&gt;The basal cell nevus syndrome.&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 103: 214-217, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5648943/&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;5648943&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2214/ajr.103.1.214&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="5648943">Lile et al. (1968)</a> observed 4 cases in 3 generations of a family. Two of the patients had a short terminal phalanx of the thumb. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5648943+13954184+14208019" 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="Berlin, N. I., Van Scott, E. J., Clendenning, W. E., Archard, H. O., Block, J. B., Witkop, C. J., Jr., Haynes, H. A. &lt;strong&gt;Basal cell nevus syndrome.&lt;/strong&gt; Ann. Intern. Med. 64: 403-421, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4285384/&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;4285384&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-64-2-403&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="4285384">Berlin et al. (1966)</a> observed ovarian carcinoma in association with this syndrome. Huge calcified ovarian fibromas were present in a clinicopathologic conference (CPC) case discussed by <a href="#43" class="mim-tip-reference" title="Holmes, L. B. &lt;strong&gt;Cabot case.&lt;/strong&gt; New Eng. J. Med. 294: 772-777, 1976."None>Holmes (1976)</a> at the Massachusetts General Hospital. The occurrence of lymphomesenteric cysts, described by <a href="#13" class="mim-tip-reference" title="Clendenning, W. E., Herdt, J. R., Block, J. B. &lt;strong&gt;Ovarian fibromas and mesenteric cysts: their association with hereditary basal cell cancer of the skin.&lt;/strong&gt; Am. J. Obstet. Gynec. 87: 1008-1012, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14089303/&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;14089303&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9378(63)90094-2&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="14089303">Clendenning et al. (1963)</a>, was emphasized in another CPC case by <a href="#67" class="mim-tip-reference" title="Ottinger, L. W., Vickery, A. L., Jr. &lt;strong&gt;Case records of the Massachusetts General Hospital (Case 10-1986).&lt;/strong&gt; New Eng. J. Med. 314: 700-706, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3951494/&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;3951494&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198603133141108&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="3951494">Ottinger and Vickery (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4285384+3951494+14089303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Holubar, K., Matras, H., Smalik, A. V. &lt;strong&gt;Multiple palmar basal cell epitheliomas in basal cell nevus syndrome.&lt;/strong&gt; Arch. Derm. 101: 679-682, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5424485/&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;5424485&lt;/a&gt;]" pmid="5424485">Holubar et al. (1970)</a> found basal cell epitheliomas in multiple palmar pits in an 8-year-old girl with BCNS. <a href="#73" class="mim-tip-reference" title="Schwartz, R. A. &lt;strong&gt;Basal-cell-nevus syndrome and gastrointestinal polyposis. (Letter)&lt;/strong&gt; New Eng. J. Med. 299: 49 only, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/661854/&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;661854&lt;/a&gt;]" pmid="661854">Schwartz (1978)</a> noted hamartomatous polyps of the stomach and mesenteric cysts as features of the basal cell nevus syndrome. <a href="#78" class="mim-tip-reference" title="Totten, J. R. &lt;strong&gt;The multiple nevoid basal cell carcinoma syndrome: report of its occurrence in four generations of a family.&lt;/strong&gt; Cancer 46: 1456-1462, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7417945/&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;7417945&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1097-0142(19800915)46:6&lt;1456::aid-cncr2820460627&gt;3.0.co;2-l&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="7417945">Totten (1980)</a> observed a large congenital lung cyst occupying the left thoracic cavity in an affected patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5424485+7417945+661854" 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="Cramer, H., Niederdellmann, H. &lt;strong&gt;Cerebral gigantism associated with jaw cyst basal cell naevoid syndrome in two families.&lt;/strong&gt; Arch. Psychiat. Nervenkr. 233: 111-124, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6882181/&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;6882181&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00343432&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="6882181">Cramer and Niederdellmann (1983)</a> described 9 subjects from 3 families with cerebral gigantism syndrome (<a href="/entry/117550">117550</a>); 7 of the patients also had signs of the basal cell nevus syndrome. In 1 family, a father was 193 cm tall at age 45 and his son was 197 cm tall at age 18; both had jaw cysts and other signs of basal cell nevus syndrome. Another son was 198 cm tall at age 17 years. Macrocephaly, mild hydrocephalus, intracranial calcification, and EEG abnormalities were also described. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6882181" 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="#64" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Maryland. 1985."None>McKusick (1985)</a> observed unilateral coloboma of the iris and glaucoma in a patient with BCNS. <a href="#59" class="mim-tip-reference" title="Levine, D. J., Robertson, D. B., Varma, V. A. &lt;strong&gt;Familial subconjunctival epithelial cysts associated with the nevoid basal cell carcinoma syndrome. (Letter)&lt;/strong&gt; Arch. Derm. 123: 23-24, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3800416/&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;3800416&lt;/a&gt;]" pmid="3800416">Levine et al. (1987)</a> described subconjunctival epithelial cysts presenting a dramatic appearance of everted upper eyelids in patients with this condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3800416" 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="#17" class="mim-tip-reference" title="De Jong, P. T. V. M., Bistervels, B., Cosgrove, J., de Grip, G., Leys, A., Goffin, M. &lt;strong&gt;Medullated nerve fibers: a sign of multiple basal cell nevi (Gorlin&#x27;s) syndrome.&lt;/strong&gt; Arch. Ophthal. 103: 1833-1836, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4074174/&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;4074174&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1985.01050120067022&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="4074174">De Jong et al. (1985)</a> described 4 patients with Gorlin syndrome, 1 of whom had been reported as case 2 by <a href="#41" class="mim-tip-reference" title="Hermans, E. H., Grosfeld, J. C. M., Spaas, J. A. J. &lt;strong&gt;The fifth phacomatosis.&lt;/strong&gt; Dermatologica 130: 446-476, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5833644/&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;5833644&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000254560&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="5833644">Hermans et al. (1965)</a>, who all exhibited prominent medullated retinal nerve fibers, either unilaterally or bilaterally. The authors stated that review of the literature revealed 4 more patients with Gorlin syndrome and medullated retinal nerve fibers (<a href="#2" class="mim-tip-reference" title="Anderson, D. E., Taylor, W. B., Falls, H. F., Davidson, R. T. &lt;strong&gt;The nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 19: 12-22, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4960000/&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;4960000&lt;/a&gt;]" pmid="4960000">Anderson et al., 1967</a>; <a href="#10" class="mim-tip-reference" title="Cernea, P., Kuffer, R., Baumont, M., Brocheriou, C., Guilbert, F. &lt;strong&gt;Naevomatose baso-cellulaire: association de naevi baso-cellulaires de la peau, de kystes epidermoides des maxillaires, de malformations osseuses et d&#x27;autres anomalies; 7 observations.&lt;/strong&gt; Revue de Stomatologie et de Chirurgie Maxillo-Faciale 70: 181-226, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4388992/&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;4388992&lt;/a&gt;]" pmid="4388992">Cernea et al., 1969</a>; <a href="#39" class="mim-tip-reference" title="Hammami, H., Faggioni, R., Streiff, E. B., Daiker, B. &lt;strong&gt;Le syndrome d&#x27;epitheliomatose naevobasocellulaire multiple.&lt;/strong&gt; Ophthalmologica 172: 382-399, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/958664/&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;958664&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000307738&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="958664">Hammami et al., 1976</a>; <a href="#69" class="mim-tip-reference" title="Poissonnet, H., Renard, G., Dufier, J. L., Polliot, L. &lt;strong&gt;Phacomatose de Gorlin-Goltz.&lt;/strong&gt; Arch. Ophtal. (Paris) 37: 221-236, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/142475/&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;142475&lt;/a&gt;]" pmid="142475">Poissonnet et al., 1977</a>). <a href="#17" class="mim-tip-reference" title="De Jong, P. T. V. M., Bistervels, B., Cosgrove, J., de Grip, G., Leys, A., Goffin, M. &lt;strong&gt;Medullated nerve fibers: a sign of multiple basal cell nevi (Gorlin&#x27;s) syndrome.&lt;/strong&gt; Arch. Ophthal. 103: 1833-1836, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4074174/&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;4074174&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1985.01050120067022&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="4074174">De Jong et al. (1985)</a> concluded that medullated retinal nerve fibers represent an additional ophthalmologic manifestation of Gorlin syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4388992+958664+142475+5833644+4960000+4074174" 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="#50" class="mim-tip-reference" title="Jones, K. L., Wolf, P. L., Jensen, P., Dittrich, H., Benirschke, K., Bloor, C. &lt;strong&gt;The Gorlin syndrome: a genetically determined disorder associated with cardiac tumor.&lt;/strong&gt; Am. Heart J. 111: 1013-1015, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3010689/&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;3010689&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-8703(86)90664-2&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="3010689">Jones et al. (1986)</a> reported a woman with Gorlin syndrome who underwent cardiac transplantation for an unresectable fibrous histiocytoma of the left ventricle at age 19 years (<a href="#47" class="mim-tip-reference" title="Jamieson, S. W., Gaudiani, V. A., Reitz, B. A., Oyer, P. E., Stinson, E. B., Shumway, N. E. &lt;strong&gt;Operative treatment of unresectable tumor of the left ventricle.&lt;/strong&gt; J. Thorac. Cardiovasc. Surg. 81: 797-799, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6261046/&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;6261046&lt;/a&gt;]" pmid="6261046">Jamieson et al., 1981</a>). She had a marfanoid habitus, frontal bossing with large occipitofrontal circumference, ocular hypertelorism, broad nasal root, enlarged jaw, glaucoma, long fingers, multiple odontogenic keratocysts, postaxial polydactyly of right foot, and bony bridging of right metatarsals 4 and 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6261046+3010689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Evans, D. G. R., Sims, D. G., Donnai, D. &lt;strong&gt;Family implications of neonatal Gorlin&#x27;s syndrome.&lt;/strong&gt; Arch. Dis. Child. 66: 1162-1163, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1750770/&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;1750770&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.66.10_spec_no.1162&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="1750770">Evans et al. (1991)</a> found abnormal ribs in 2 infants delivered preterm at 29 and 25 weeks. The finding at first was thought unimportant but subsequently was shown to indicate that some members of their families had Gorlin syndrome. In the first case, early routine chest radiographs showed an incidental finding of bifid ribs. The 25-year-old father had a dislocated shoulder from birth due to Sprengel deformity (<a href="/entry/184400">184400</a>), pronounced frontal bossing with enlarged head, hypertelorism, calcification of the falx cerebri, pituitary fossa totally bridged by bone, and bilateral bifid ribs. A 5-year-old brother had calcifications within the falx cerebri. A 4-year-old brother had been diagnosed as having arrested congenital hydrocephalus, and chest radiograph showed 2 bifid ribs. The second index patient had possible Sprengel deformity in addition to bifid ribs. This patient's mother had had 5 jaw cysts removed between ages 11 and 31. She also had an enlarged head with pronounced frontal bossing, pits in the palms of her hands and feet, multiple milia on her forehead, and hypertelorism. Radiographs showed scoliosis, calcified ovarian fibroma, calcification of the falx cerebri, and minor rib anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1750770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Evans, D. G. R., Ladusans, E. J., Rimmer, S., Burnell, L. D., Thakker, N., Farndon, P. A. &lt;strong&gt;Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.&lt;/strong&gt; J. Med. Genet. 30: 460-464, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8326488/&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;8326488&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.6.460&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="8326488">Evans et al. (1993)</a> reported the clinical complications of this disorder in 84 patients. Basal cell carcinomas and jaw cysts occurred in more than 90% of patients by 40 years of age, but both sometimes occurred before 10 years of age. Less well-described complications included ovarian calcification or fibroma (24%), medulloblastoma (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or cataract (26%). <a href="#74" class="mim-tip-reference" title="Shanley, S., Ratcliffe, J., Hockey, A., Haan, E., Oley, C., Ravine, D., Martin, N., Wicking, C., Chenevix-Trench, G. &lt;strong&gt;Nevoid basal cell carcinoma syndrome: review of 118 affected individuals.&lt;/strong&gt; Am. J. Med. Genet. 50: 282-290, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8042673/&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;8042673&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320500312&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="8042673">Shanley et al. (1994)</a> identified 118 cases in Australia. The frequency of most manifestations were similar to those reported by <a href="#19" class="mim-tip-reference" title="Evans, D. G. R., Ladusans, E. J., Rimmer, S., Burnell, L. D., Thakker, N., Farndon, P. A. &lt;strong&gt;Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.&lt;/strong&gt; J. Med. Genet. 30: 460-464, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8326488/&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;8326488&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.6.460&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="8326488">Evans et al. (1993)</a>. A major difference, however, was that the multiple basal cell carcinomas were manifest from an earlier age in the Australian population, which was considered to reflect greater exposure to ultraviolet radiation. Of the 64 families ascertained, 37 represented sporadic cases, and accordingly the new mutation rate appeared to be high. Multiple BCCs occurred before age 20 years in 90 (75%) of 118 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8326488+8042673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Goldstein, A. M., Pastakia, B., DiGiovanna, J. J., Poliak, S., Santucci, S., Kase, R., Bale, A. E., Bale, S. J. &lt;strong&gt;Clinical findings in two African-American families with nevoid basal cell carcinoma syndrome (NBCC).&lt;/strong&gt; Am. J. Med. Genet. 50: 272-281, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8042672/&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;8042672&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320500311&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="8042672">Goldstein et al. (1994)</a> examined 11 African Americans from 2 families with Gorlin syndrome, which they abbreviated 'NBCC' for nevoid basal cell carcinoma syndrome. They also reviewed the literature on this condition in African Americans. African Americans tended to have reduced expression of the basal cell carcinomas but full expression of other syndrome components. The 3 most common findings in their 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri. Only 4 of the 11 had 1 or more confirmed basal cell carcinomas, whereas the frequency of basal cell carcinomas in whites had been estimated at 90%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8042672" 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="#52" class="mim-tip-reference" title="Kimonis, V. E., Goldstein, A. M., Pastakia, B., Yang, M. L., Kase, R., DiGiovanna, J. J., Bale, A. E., Bale, S. J. &lt;strong&gt;Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Am. J. Med. Genet. 69: 299-308, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9096761/&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;9096761&lt;/a&gt;]" pmid="9096761">Kimonis et al. (1997)</a> reviewed the findings in 105 individuals with Gorlin syndrome examined at the NIH since 1985. The data derived from 48 males and 57 females ranging in age from 4 months to 87 years. They found that 80% of whites (71 of 90) and 38% of African Americans (5 of 13) had at least 1 basal cell carcinoma, with the first tumor occurring at a mean age of 23 and 21 years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to more than 1,000, and 1 to 3, respectively, in the 2 ethnic groups. Other features included jaw cysts (74%), palmar pits and plantar pits (87%), and ovarian fibromas (17%). Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings included coarse facies (54%), relative macrocephaly (50%), hypertelorism (42%), frontal bossing (27%), pectus deformity (13%), and Sprengel deformity (11%). Important radiologic signs included calcification of the falx cerebri (65%), of the tentorium cerebelli (20%), bridged sella (68%), bifid ribs (26%), hemivertebrae (15%), fusion of the vertebral bodies (10%), and flame-shaped lucencies of the phalanges, metacarpal, and carpal bones of the hands (30%). Several traits previously considered components of the syndrome, such as short fourth metacarpal, scoliosis, cervical ribs, and spina bifida occulta, were not found to be significantly increased in the affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9096761" 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="#55" class="mim-tip-reference" title="Korczak, J. F., Brahim, J. S., DiGiovanna, J. J., Kase, R. G., Wexler, L. H., Goldstein, A. M. &lt;strong&gt;Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction.&lt;/strong&gt; Am. J. Med. Genet. 69: 309-314, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9096762/&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;9096762&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970331)69:3&lt;309::aid-ajmg17&gt;3.0.co;2-v&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="9096762">Korczak et al. (1997)</a> reported an African American boy who developed medulloblastoma at age 2 years. He was treated with surgery, chemotherapy, and craniospinal irradiation. He was diagnosed with Gorlin syndrome at age 6 following identification of a large odontogenic keratocyst of the mandible, pits of the palms and soles, and numerous BCCs in the area of the back and neck that had been irradiated previously. Examination of other relatives showed that the mother also had Gorlin syndrome but was more mildly affected; in particular, she had no BCCs. This family illustrated a complex gene-environment interaction. Increased skin pigmentation in African Americans was presumably protective against UV, but not ionizing, radiation. Similar cases in the literature illustrated the importance of considering Gorlin syndrome in the differential diagnosis of any patient who presents with a medulloblastoma, especially before the age of 5 years. <a href="#55" class="mim-tip-reference" title="Korczak, J. F., Brahim, J. S., DiGiovanna, J. J., Kase, R. G., Wexler, L. H., Goldstein, A. M. &lt;strong&gt;Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction.&lt;/strong&gt; Am. J. Med. Genet. 69: 309-314, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9096762/&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;9096762&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970331)69:3&lt;309::aid-ajmg17&gt;3.0.co;2-v&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="9096762">Korczak et al. (1997)</a> also concluded that for individuals who are radiosensitive, protocols that utilize chemotherapy in lieu of radiotherapy should be considered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9096762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Hall, J., Johnston, K. A., McPhillips, J. P., Barnes, S. D., Elston, D. M. &lt;strong&gt;Nevoid basal cell carcinoma syndrome in a black child.&lt;/strong&gt; J. Am. Acad. Derm. 38: 363-365, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9486718/&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;9486718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0190-9622(98)70585-7&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="9486718">Hall et al. (1998)</a> reported an 11-year-old African American boy with NBCCS who presented with exotropia and a painful, expanding, cystic mass in the left posterior alveolar ridge. An impacted molar was displaced into the orbit by an odontogenic keratocyst. Further examination revealed palmar and plantar pitting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9486718" 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="#61" class="mim-tip-reference" title="Lo Muzio, L., Nocini, P. F., Savoia, A., Consolo, U., Procaccini, M., Zelante, L., Pannone, G., Bucci, P., Dolci, M., Bambini, F., Solda, P., Favia, G. &lt;strong&gt;Nevoid basal cell carcinoma syndrome: clinical findings in 37 Italian affected individuals.&lt;/strong&gt; Clin. Genet. 55: 34-40, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10066029/&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;10066029&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1999.550106.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="10066029">Lo Muzio et al. (1999)</a> described the clinical features of Gorlin syndrome in northern Italy. Aside from the many features previously reported, other manifestations included benign dermal cysts, impacted teeth, dental ectopy, exophthalmos, ovarian cysts, and calcification of tentorium cerebelli. The relatively lower percentage of patients with basal cell carcinomas (30%) may have been related to the protective skin pigmentation in the Italian population, as has already been established in African Americans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10066029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Honavar, S. G., Shields, J. A., Shields, C. L., Eagle, R. C., Jr., Demirci, H., Mahmood, E. Z. &lt;strong&gt;Basal cell carcinoma of the eyelid associated with Gorlin-Goltz syndrome.&lt;/strong&gt; Ophthalmology 108: 1115-1123, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11382639/&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;11382639&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0161-6420(01)00560-7&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="11382639">Honavar et al. (2001)</a> reviewed 105 consecutive patients with eyelid basal cell carcinoma and found 4 patients with Gorlin-Goltz syndrome, all of whom had a family history of this disorder. Common systemic manifestations included multiple basal cell carcinomas, frontal bossing or increased occipitofrontal circumference, palmar pits, odontogenic keratocyst, ectopic calcification, and bifid ribs. The mean age at detection of the first basal cell carcinoma was 30 years (range, 16-38 years). The eyelid basal cell carcinomas were advanced with orbital infiltration in 3 patients, 1 of whom opted for palliative radiotherapy and 2 of whom underwent orbital exenteration. The fourth patient underwent local reexcision of recurrent basal cell carcinoma with upper eyelid reconstruction. After 41 months' mean follow-up, 3 patients were cured of eyelid basal cell carcinoma and 1 was stable. No patient had life-threatening sequelae of Gorlin-Goltz syndrome. The authors concluded that lifelong monitoring is essential for patient management in Gorlin-Goltz syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11382639" 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>Acrochordons are distinctly uncommon in childhood. <a href="#12" class="mim-tip-reference" title="Chiritescu, E., Maloney, M. E. &lt;strong&gt;Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome.&lt;/strong&gt; J. Am. Acad. Derm. 44: 789-794, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11312426/&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;11312426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mjd.2001.112399&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="11312426">Chiritescu and Maloney (2001)</a> evaluated 7 children who presented with pedunculated papules (acrochordon-like growths). Histopathologic examination of these papules showed basal cell carcinomas in each biopsy specimen. Further physical examination of the subjects and family members confirmed a diagnosis of NBCCS in all 7 children. <a href="#12" class="mim-tip-reference" title="Chiritescu, E., Maloney, M. E. &lt;strong&gt;Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome.&lt;/strong&gt; J. Am. Acad. Derm. 44: 789-794, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11312426/&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;11312426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mjd.2001.112399&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="11312426">Chiritescu and Maloney (2001)</a> considered that 'skin tag'-like basal cell carcinomas in childhood may represent a marker for NBCCS and that early diagnosis of this syndrome and early sun protection of the affected children could help decrease the number of lifetime tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11312426" 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="#57" class="mim-tip-reference" title="Leonardi, R., Sorge, G., Caltabiano, M. &lt;strong&gt;Bilateral hyperplasia of the mandibular coronoid processes associated with the nevoid basal cell carcinoma syndrome in an Italian boy.&lt;/strong&gt; Brit. Dent. J. 190: 349-350, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11338037/&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;11338037&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.bdj.4800970&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="11338037">Leonardi et al. (2001)</a> reported a patient with NBCCS who had bilateral mandibular coronoid process hyperplasia, a condition that causes a progressive and painless limitation of jaw movements, especially in opening. <a href="#56" class="mim-tip-reference" title="Leonardi, R., Caltabiano, M., Lo Muzio, L., Gorlin, R. J., Bucci, P., Pannone, G., Canfora, M., Sorge, G. &lt;strong&gt;Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 110: 400-403, 2002. Note: Erratum: Am. J. Med. Genet. 120A: 446 only, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12116218/&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;12116218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10432&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="12116218">Leonardi et al. (2002)</a> examined 10 patients with NBCCS for mandibular coronoid process hyperplasia and found that 4 were affected. They suggested that coronoid hyperplasia may be a radiologic criterion for NBCCS and may help in establishing a diagnosis, especially in pediatric patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12116218+11338037" 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="#54" class="mim-tip-reference" title="Koch, C. A., Chrousos, G. P., Chandra, R., Evangelista, R. S., Gilbert, J. C., Nobuhara, K., Zhuang, Z., Vortmeyer, A. O. &lt;strong&gt;Two-hit model for tumorigenesis of nevoid basal cell carcinoma (Gorlin) syndrome-associated hepatic mesenchymal tumor. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 109: 74-76, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11932998/&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;11932998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10301&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="11932998">Koch et al. (2002)</a> described a 13-year-old boy with NBCCS who presented with right-sided abdominal pain and was found to have a mesenchymal hepatic tumor. At the age of 3 years he had had treatment of a medulloblastoma by resection and irradiation. The diagnosis of NBCCS was made at the age of 9 on the basis of palmar pits and odontogenic keratocysts of the mandible and maxilla. Multiple basal cell carcinomas developed on his forehead and occipital scalp the following year. The hepatic mass, removed at the age of 13 years, was found to be a mesenchymal tumor of low cellularity, composed of elongated cells embedded in a myxoid matrix. Nuclei were small and elongated, with no nuclear pleomorphism or mitoses. These findings were considered consistent with a benign mesenchymal tumor in the liver. The patient remained asymptomatic without evidence of recurrence at the 18-month follow-up. The mother and older brother were thought to have NBCCS; the paternal grandmother had surgical resection for medulloblastoma, but apparently had no other features of NBCCS. With studies of markers that mapped to the PTCH gene locus at 9q23, loss of heterozygosity in that region was evident in DNA samples from basal cell carcinoma, medulloblastoma, and a mesenchymal hepatic tumor. On the basis of Knudson's 2-hit hypothesis, <a href="#54" class="mim-tip-reference" title="Koch, C. A., Chrousos, G. P., Chandra, R., Evangelista, R. S., Gilbert, J. C., Nobuhara, K., Zhuang, Z., Vortmeyer, A. O. &lt;strong&gt;Two-hit model for tumorigenesis of nevoid basal cell carcinoma (Gorlin) syndrome-associated hepatic mesenchymal tumor. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 109: 74-76, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11932998/&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;11932998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10301&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="11932998">Koch et al. (2002)</a> concluded that mesenchymal tumors, such as the hepatic fibromyxoid tumor in their patient, may be another complication of NBCCS. They referred to the report by <a href="#16" class="mim-tip-reference" title="Darling, T. N., Skarulis, M. C., Steinberg, S. M., Marx, S. J., Spiegel, A. M., Turner, M. &lt;strong&gt;Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1.&lt;/strong&gt; Arch. Derm. 133: 853-857, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9236523/&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;9236523&lt;/a&gt;]" pmid="9236523">Darling et al. (1997)</a> as another example of benign mesenchymal tumors occurring in another hereditary neoplastic disorder, multiple endocrine neoplasia type I (MEN1; <a href="/entry/131100">131100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9236523+11932998" 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="#68" class="mim-tip-reference" title="Ozturk, A., Oguz, K. K., Tumer, C., Balci, S. &lt;strong&gt;Neuroradiological findings in a mother and daughter with Gorlin syndrome. (Letter)&lt;/strong&gt; Clin. Dysmorph. 12: 145-146, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12868482/&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;12868482&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-200304000-00016&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="12868482">Ozturk et al. (2003)</a> reported a mother and daughter with Gorlin syndrome who had calcification of the falx cerebri and tentorium cerebelli and dysgenesis of the corpus callosum and vermis. Vermian dysgenesis was detected in both mother and daughter, suggesting a previously unrecognized finding associated with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12868482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Fujii, K., Miyashita, T., Omata, T., Kobayashi, K., Takanashi, J., Kouchi, K., Yamada, M., Kohno, Y. &lt;strong&gt;Gorlin syndrome with ulcerative colitis in a Japanese girl.&lt;/strong&gt; Am. J. Med. Genet. 121A: 65-68, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12900905/&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;12900905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20082&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="12900905">Fujii et al. (2003)</a> reported a 14-year-old Japanese girl with Gorlin syndrome and ulcerative colitis (see <a href="/entry/266600">266600</a>). She had complained of blood stools for 6 months and had exhibited severe scoliosis since infancy. Physical examination revealed multiple nevi, palmar and plantar pits, jaw cysts, and calcification of the falx cerebri, consistent with the diagnosis of Gorlin syndrome. Total colonoscopy revealed an edematous and spotty bleeding mucosa extending from the anus to the transverse colon, and histologic examination was compatible with ulcerative colitis. <a href="#26" class="mim-tip-reference" title="Fujii, K., Miyashita, T., Omata, T., Kobayashi, K., Takanashi, J., Kouchi, K., Yamada, M., Kohno, Y. &lt;strong&gt;Gorlin syndrome with ulcerative colitis in a Japanese girl.&lt;/strong&gt; Am. J. Med. Genet. 121A: 65-68, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12900905/&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;12900905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20082&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="12900905">Fujii et al. (2003)</a> noted that <a href="#51" class="mim-tip-reference" title="Katz, J., Savin, R., Spiro, H. M. &lt;strong&gt;The basal cell nevus syndrome and inflammatory disease of the bowel.&lt;/strong&gt; Am. J. Med. 44: 483-488, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5641308/&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;5641308&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(68)90119-8&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="5641308">Katz et al. (1968)</a> and <a href="#72" class="mim-tip-reference" title="Sawyer, C. S., Braverman, I. M. &lt;strong&gt;Basal cell nevus syndrome with inflammatory disease of the bowel.&lt;/strong&gt; Arch. Derm. 99: 131-132, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5761802/&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;5761802&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.99.1.131&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="5761802">Sawyer and Braverman (1969)</a> had also reported Gorlin syndrome associated with inflammatory bowel disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12900905+5761802+5641308" 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="#81" class="mim-tip-reference" title="Wilson, L. C., Ajayi-Obe, E., Bernhard, B., Maas, S. M. &lt;strong&gt;Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.&lt;/strong&gt; Am. J. Med. Genet. 140A: 2625-2630, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16906569/&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;16906569&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31374&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="16906569">Wilson et al. (2006)</a> reported on the occurrence of discrete patches of unusually long pigmented hair on the skin of 3 patients with Gorlin syndrome from 2 unrelated families with confirmed heterozygous PTCH1 mutation. The SHH (<a href="/entry/600725">600725</a>)-PTCH1 pathway is known to play an important role in the formation and cycling of hair follicles. <a href="#81" class="mim-tip-reference" title="Wilson, L. C., Ajayi-Obe, E., Bernhard, B., Maas, S. M. &lt;strong&gt;Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.&lt;/strong&gt; Am. J. Med. Genet. 140A: 2625-2630, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16906569/&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;16906569&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31374&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="16906569">Wilson et al. (2006)</a> suggested that these discrete patches of hair represented genuine physical signs associated with Gorlin syndrome and discussed molecular mechanisms by which they might arise. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906569" 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="#66" class="mim-tip-reference" title="Nakamura, M., Tokura, Y. &lt;strong&gt;A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Europ. J. Derm. 19: 262-263, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19213655/&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;19213655&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1684/ejd.2009.0627&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="19213655">Nakamura and Tokura (2009)</a> reported a 21-year-old Japanese woman with BCNS1 who had palmoplantar pits and multiple jaw cysts for which she had undergone surgery. Her limb development and facial appearance were unremarkable, and examination did not reveal any skin tumors. She had a brother and sister with multiple jaw cysts for which they too had undergone surgery, and her brother also had palmoplantar pits. There was no history of basal cell carcinoma or consanguinity in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19213655" 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="#53" class="mim-tip-reference" title="Kimonis, V. E., Singh, K. E., Zhong, R., Pastakia, B., DiGiovanna, J. J., Bale, S. J. &lt;strong&gt;Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Genet. Med. 15: 79-83, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22918513/&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;22918513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2012.96&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="22918513">Kimonis et al. (2013)</a> studied minor and major clinical features in 30 children and teenagers and compared the findings with 75 adults from 26 families with nevoid basal cell carcinoma syndrome. Fifty percent of children/teenagers and 82% of adults had at least one basal cell carcinoma. Jaw cysts occurred in 60% of children/teenagers and 81% of adults. Palmar/plantar pits were the most frequent feature seen in affected individuals at all ages. Macrocephaly was seen in 50% of affected and 8% of unaffected children/teenagers. Frontal bossing, hypertelorism, Sprengel deformity, pectus deformity, and cleft lip/palate were seen among affected children/teenagers but not among their unaffected sibs. Falx calcification was seen in 37% of individuals under 20 and 79% of those over 20 years of age. <a href="#53" class="mim-tip-reference" title="Kimonis, V. E., Singh, K. E., Zhong, R., Pastakia, B., DiGiovanna, J. J., Bale, S. J. &lt;strong&gt;Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Genet. Med. 15: 79-83, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22918513/&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;22918513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2012.96&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="22918513">Kimonis et al. (2013)</a> suggested evaluation for palmar/plantar pits, craniofacial features, and radiologic manifestations to permit early diagnosis and optimum surveillance of nevoid basal cell carcinoma syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22918513" 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="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>About 40% of cases represent a de novo mutation (<a href="#33" class="mim-tip-reference" title="Gorlin, R. J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Minneapolis, Minn. 1982."None>Gorlin, 1982</a>). <a href="#49" class="mim-tip-reference" title="Jones, K. L., Smith, D. W., Harvey, M. A. S., Hall, B. D., Quan, L. &lt;strong&gt;Older paternal age and fresh gene mutation: data on additional disorders.&lt;/strong&gt; J. Pediat. 86: 84-88, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1110452/&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;1110452&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(75)80709-8&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="1110452">Jones et al. (1975)</a> found evidence of paternal age effect in new mutations for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1110452" 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="diagnosis" class="mim-anchor"></a>
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<strong>Diagnosis</strong>
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<p><a href="#52" class="mim-tip-reference" title="Kimonis, V. E., Goldstein, A. M., Pastakia, B., Yang, M. L., Kase, R., DiGiovanna, J. J., Bale, A. E., Bale, S. J. &lt;strong&gt;Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Am. J. Med. Genet. 69: 299-308, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9096761/&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;9096761&lt;/a&gt;]" pmid="9096761">Kimonis et al. (1997)</a> tabulated major and minor criteria that could be used in making the diagnosis of Gorlin syndrome by the presence of 2 major or 1 major and 2 minor criteria. They suggested that a child who is at risk for having inherited the gene should have careful physical examination at birth for pits and other minor features and radiologic evaluation with rib, skull, and spine films to look for skeletal abnormalities. In their study, the risk of developing a medulloblastoma was greatest between 2 and 3 years; however, such had been reported up to age 7 years (<a href="#18" class="mim-tip-reference" title="Evans, D. G. R., Farndon, P. A., Burnell, L. D., Rao Gattamaneni, H., Birch, J. M. &lt;strong&gt;The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma.&lt;/strong&gt; Brit. J. Cancer 64: 959-961, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1931625/&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;1931625&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/bjc.1991.435&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="1931625">Evans et al., 1991</a>). <a href="#52" class="mim-tip-reference" title="Kimonis, V. E., Goldstein, A. M., Pastakia, B., Yang, M. L., Kase, R., DiGiovanna, J. J., Bale, A. E., Bale, S. J. &lt;strong&gt;Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Am. J. Med. Genet. 69: 299-308, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9096761/&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;9096761&lt;/a&gt;]" pmid="9096761">Kimonis et al. (1997)</a> suggested that advising patients to reduce exposure to UV radiation may lessen their risk of developing BCCs. Radiation therapy should also be avoided, but this is understandably difficult when there is a need to make the diagnosis and provide for proper surveillance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9096761+1931625" 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="#8" class="mim-tip-reference" title="Bialer, M. G., Gailani, M. R., McLaughlin, J. A., Petrikovsky, B., Bale, A. E. &lt;strong&gt;Prenatal diagnosis of Gorlin syndrome. (Letter)&lt;/strong&gt; Lancet 344: 477 only, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7914587/&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;7914587&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(94)91810-4&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="7914587">Bialer et al. (1994)</a> made the prenatal diagnosis of Gorlin syndrome in a pregnancy sired by a man with Gorlin syndrome. There were 2 other affected members in the family. Polymorphic DNA markers on chromosome 9 were used and the fetal diagnosis was confirmed by ultrasound scan which showed unilateral cleft lip, probable cleft palate, and hydrocephalus. The parents elected to terminate the pregnancy and examination of the fetus revealed aqueductal stenosis, cleft lip, and cleft palate with a prominent forehead and macrocephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7914587" 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="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Mapping</strong>
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<p>By linkage analysis, <a href="#21" class="mim-tip-reference" title="Farndon, P. A., Del Mastro, R. G., Evans, D. G. R., Kilpatrick, M. W. &lt;strong&gt;Location of gene for Gorlin syndrome.&lt;/strong&gt; Lancet 339: 581-582, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1347096/&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;1347096&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(92)90868-4&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="1347096">Farndon et al. (1992)</a> localized BCNS to chromosome 9q22.3-q31 (maximum lod scores of 3.597 and 6.457 at markers D9S12 and D9S53). <a href="#70" class="mim-tip-reference" title="Reis, A., Kuster, W., Linss, G., Gebel, E., Hamm, H., Fuhrmann, W., Wolff, G., Groth, W., Gustafson, G., Kuklik, M., Burger, J., Wegner, R. D., Neitzel, H. &lt;strong&gt;Localisation of gene for the naevoid basal-cell carcinoma syndrome. (Letter)&lt;/strong&gt; Lancet 339: 617 only, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1347116/&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;1347116&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(92)90903-g&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="1347116">Reis et al. (1992)</a> confirmed the assignment to chromosome 9 and concluded that D9S43 is centromeric to BCNS and that GSN (<a href="/entry/137350">137350</a>) and ASS (<a href="/entry/603470">603470</a>) are telomeric to BCNS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1347116+1347096" 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 their collection of Australasian pedigrees, <a href="#79" class="mim-tip-reference" title="Wicking, C., Berkman, J., Wainwright, B., Chenevix-Trench, G. &lt;strong&gt;Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Genomics 22: 505-511, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8001963/&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;8001963&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1994.1423&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="8001963">Wicking et al. (1994)</a> further refined the localization of the BCNS gene to a 2-cM interval between D9S196 and D9S180. <a href="#22" class="mim-tip-reference" title="Farndon, P. A., Morris, D. J., Hardy, C., McConville, C. M., Weissenbach, J., Kilpatrick, M. W., Reis, A. &lt;strong&gt;Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3.&lt;/strong&gt; Genomics 23: 486-489, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7835901/&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;7835901&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1994.1528&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="7835901">Farndon et al. (1994)</a> concluded that the gene involved with NBCCS lies in a 2.6-cM interval centromeric to D9S287. Recombinants also mapped the gene for Fanconi anemia, group C (FANCC; <a href="/entry/227645">227645</a>) to the same region (maximum lod score of 5.601). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7835901+8001963" 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="cytogenetics" class="mim-anchor"></a>
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<strong>Cytogenetics</strong>
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<p><a href="#28" class="mim-tip-reference" title="Gibbs, P. M., Stevens, P. R., Garson, O. M. &lt;strong&gt;The multiple basal cell nevus syndrome: a cytogenetic study of six cases.&lt;/strong&gt; Cancer Genet. Cytogenet. 20: 369-370, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3943073/&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;3943073&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0165-4608(86)90097-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="3943073">Gibbs et al. (1986)</a> found no chromosomal abnormalities in 6 BCNS patients from 4 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3943073" 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="#27" class="mim-tip-reference" title="Gailani, M. R., Bale, S. J., Leffell, D. J., DiGiovanna, J. J., Peck, G. L., Poliak, S., Drum, M. A., Pastakia, B., McBride, O. W., Kase, R., Greene, M., Mulvihill, J. J., Bale, A. E. &lt;strong&gt;Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.&lt;/strong&gt; Cell 69: 111-117, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1348213/&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;1348213&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(92)90122-s&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="1348213">Gailani et al. (1992)</a> found allelic loss in the chromosome 9q31 region in 11 of 16 sporadic basal cell carcinomas, in 2 hereditary basal cell carcinomas, and in 1 hereditary ovarian fibroma. Furthermore, in a study of 5 Gorlin syndrome kindreds, tight linkage was found with a genetic marker in this region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1348213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 15 Australasian pedigrees, <a href="#11" class="mim-tip-reference" title="Chenevix-Trench, G., Wicking, C., Berkman, J., Sharpe, H., Hockey, A., Haan, E., Oley, C., Ravine, D., Turner, A., Goldgar, D., Searle, J., Wainwright, B. &lt;strong&gt;Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.&lt;/strong&gt; Am. J. Hum. Genet. 53: 760-767, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8352281/&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;8352281&lt;/a&gt;]" pmid="8352281">Chenevix-Trench et al. (1993)</a> demonstrated that the NBCCS gene was linked to markers in the same region of chromosome 9 with no evidence of significant heterogeneity. Loss of heterozygosity (LOH) was detected in half of sporadic cases of basal cell carcinoma, a rate significantly higher than that in other skin lesions used as controls. These findings suggested that sporadic basal cell carcinomas may be due to mutation in the same gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8352281" 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="#75" class="mim-tip-reference" title="Shimkets, R., Gailani, M. R., Siu, V. M., Yang-Feng, T., Pressman, C. L., Levanat, S., Goldstein, A., Dean, M., Bale, A. E. &lt;strong&gt;Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.&lt;/strong&gt; Am. J. Hum. Genet. 59: 417-422, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8755929/&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;8755929&lt;/a&gt;]" pmid="8755929">Shimkets et al. (1996)</a> reported cytogenetic and molecular characterization of germline deletions in a patient with a chromosome 9q22 deletion and a second patient with a deletion of 9q22-q31. Both had typical features of Gorlin syndrome plus additional findings. <a href="#75" class="mim-tip-reference" title="Shimkets, R., Gailani, M. R., Siu, V. M., Yang-Feng, T., Pressman, C. L., Levanat, S., Goldstein, A., Dean, M., Bale, A. E. &lt;strong&gt;Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.&lt;/strong&gt; Am. J. Hum. Genet. 59: 417-422, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8755929/&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;8755929&lt;/a&gt;]" pmid="8755929">Shimkets et al. (1996)</a> noted that the fact that Gorlin syndrome can be caused by null mutations provided evidence that associated neoplasms arise with homozygous inactivation of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755929" 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="#65" class="mim-tip-reference" title="Midro, A. T., Panasiuk, B., Tumer, Z., Stankiewicz, P., Silahtaroglu, A., Lupski, J. R., Zemanova, Z., Stasiewicz-Jarocka, B., Hubert, E., Tarasow, E., Famulski, W., Zadrozna-Tolwinska, B., Wasilewska, E., Kirchhoff, M., Kalscheuer, V., Michalova, K., Tommerup, N. &lt;strong&gt;Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of nail-patella syndrome.&lt;/strong&gt; Am. J. Med. Genet. 124A: 179-191, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14699618/&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;14699618&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20367&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="14699618">Midro et al. (2004)</a> described an 11-year-old girl with an interstitial deletion of 9q22.32-q33.2 associated with a familial translocation t(9;17)(q34.11;p11.2) who had clinical features consistent with basal cell nevus syndrome and some features of nail-patella syndrome (NPS; <a href="/entry/161200">161200</a>). The translocation breakpoint on 9q34.11 mapped proximal to the ABL gene (<a href="/entry/189980">189980</a>), between the BAC clone RP11-88G17 and the LMX1B gene (<a href="/entry/602575">602575</a>), which is mutated in nail-patella syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14699618" 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>In 2 unrelated patients with Gorlin syndrome, <a href="#48" class="mim-tip-reference" title="Johnson, R. L., Rothman, A. L., Xie, J., Goodrich, L. V., Bare, J. W., Bonifas, J. M., Quinn, E. H., Myers, R. M., Cox, D. R., Epstein, E. H., Jr., Scott, M. P. &lt;strong&gt;Human homolog of patched, a candidate gene for the basal cell nevus syndrome.&lt;/strong&gt; Science 272: 1668-1671, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8658145/&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;8658145&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.272.5268.1668&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="8658145">Johnson et al. (1996)</a> identified different heterozygous mutations in the PTCH1 gene (<a href="/entry/601309#0001">601309.0001</a> and <a href="/entry/601309#0002">601309.0002</a>). <a href="#48" class="mim-tip-reference" title="Johnson, R. L., Rothman, A. L., Xie, J., Goodrich, L. V., Bare, J. W., Bonifas, J. M., Quinn, E. H., Myers, R. M., Cox, D. R., Epstein, E. H., Jr., Scott, M. P. &lt;strong&gt;Human homolog of patched, a candidate gene for the basal cell nevus syndrome.&lt;/strong&gt; Science 272: 1668-1671, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8658145/&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;8658145&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.272.5268.1668&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="8658145">Johnson et al. (1996)</a> stated that PTCH1 is expressed in developing sclerotome, branchial arches, limbs, and spinal cord and in vertebrate skin and noted that the pattern of vertebrate gene expression was consistent with the abnormalities found in BCNS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8658145" 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>Simultaneously and independently, <a href="#37" class="mim-tip-reference" title="Hahn, H., Wicking, C., Zaphiropoulos, P. G., Gailani, M. R., Shanley, S., Chidambaram, A., Vorechovsky, I., Holmberg, E., Unden, A. B., Gillies, S., Negus, K., Smyth, I., Pressman, C., Leffell, D. J., Gerrard, B., Goldstein, A. M., Dean, M., Toftgard, R., Chenevix-Trench, G., Wainwright, B., Bale, A. E. &lt;strong&gt;Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Cell 85: 841-851, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8681379/&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;8681379&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(00)81268-4&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="8681379">Hahn et al. (1996)</a> identified heterozygous PTCH1 mutations in unrelated patients with BCNS (see, e.g., <a href="/entry/601309#0003">601309.0003</a>-<a href="/entry/601309#0005">601309.0005</a>). The authors proposed that a reduction in the expression of the PTCH1 gene can lead to the developmental abnormalities observed in this syndrome and that complete loss of PTCH1 function contributes to the transformation of certain cell types. Two sporadic basal-cell carcinomas with allelic loss of the NBCCS region had inactivating PTCH1 mutations in the remaining allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8681379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Fujii, K., Miyashita, T., Omata, T., Kobayashi, K., Takanashi, J., Kouchi, K., Yamada, M., Kohno, Y. &lt;strong&gt;Gorlin syndrome with ulcerative colitis in a Japanese girl.&lt;/strong&gt; Am. J. Med. Genet. 121A: 65-68, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12900905/&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;12900905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20082&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="12900905">Fujii et al. (2003)</a> identified a heterozygous mutation in exon 9 of the PTCH1 gene (<a href="/entry/601309#0016">601309.0016</a>) in a 14-year-old Japanese girl with Gorlin syndrome and ulcerative colitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12900905" 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="#77" class="mim-tip-reference" title="Takahashi, C., Kanazawa, N., Yoshikawa, Y., Yoshikawa, R., Saitoh, Y., Chiyo, H., Tanizawa, T., Hashimoto-Tamaoki, T., Nakano, Y. &lt;strong&gt;Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.&lt;/strong&gt; J. Hum. Genet. 54: 403-408, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19557015/&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;19557015&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2009.55&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="19557015">Takahashi et al. (2009)</a> identified 6 different heterozygous truncating germline mutations in the PTCH1 gene in 6 Japanese families with BCNS. There was no evidence of a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19557015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 21-year-old Japanese woman with palmoplantar pits and multiple jaw cysts, <a href="#66" class="mim-tip-reference" title="Nakamura, M., Tokura, Y. &lt;strong&gt;A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Europ. J. Derm. 19: 262-263, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19213655/&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;19213655&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1684/ejd.2009.0627&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="19213655">Nakamura and Tokura (2009)</a> directly sequenced the PTCH1 gene and identified heterozygosity for a missense mutation (V442E; <a href="/entry/601309#0018">601309.0018</a>). Her parents and an affected brother and sister declined to participate in the study. The mutation was not found in the Japanese SNP database. The authors noted that although Japan is a genetically closed island, no founder effect had been observed among Japanese NBCCS patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19213655" 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>Patients with BCNS are abnormally sensitive to radiotherapeutic doses of ionizing radiation; several treated patients have developed an unusually large number of basal cell tumors in the irradiated area a short time after exposure. However, <a href="#24" class="mim-tip-reference" title="Featherstone, T., Taylor, A. M. R., Harnden, D. G. &lt;strong&gt;Studies on the radiosensitivity of cells from patients with basal cell naevus syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 35: 58-66, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6823972/&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;6823972&lt;/a&gt;]" pmid="6823972">Featherstone et al. (1983)</a> did not detect radiosensitivity at the cellular level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6823972" 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="#58" class="mim-tip-reference" title="Levanat, S., Gorlin, R. J., Fallet, S., Johnson, D. R., Fantasia, J. E., Bale, A. E. &lt;strong&gt;A two-hit model for developmental defects in Gorlin syndrome.&lt;/strong&gt; Nature Genet. 12: 85-87, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8528259/&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;8528259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0196-85&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="8528259">Levanat et al. (1996)</a> suggested a 2-hit mechanism for neoplasia in the Gorlin syndrome according to the Knudson model. The authors concluded that the causative gene probably functions as a tumor suppressor based on deletion of the relevant region of 9q found in many neoplasms occurring in the syndrome. Some of the associated developmental defects may also arise through a 2-hit mechanism. Like neoplasms in familial cancer predisposition syndromes, the jaw cysts in Gorlin syndrome are multiple and appear in a random pattern, but similar defects are seen occasionally as an isolated finding in the general population. <a href="#58" class="mim-tip-reference" title="Levanat, S., Gorlin, R. J., Fallet, S., Johnson, D. R., Fantasia, J. E., Bale, A. E. &lt;strong&gt;A two-hit model for developmental defects in Gorlin syndrome.&lt;/strong&gt; Nature Genet. 12: 85-87, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8528259/&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;8528259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0196-85&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="8528259">Levanat et al. (1996)</a> examined a series of chromosome 9 polymorphisms in abnormal and matched constitutional tissue and found that the lining of the jaw cysts lost the normal copy of the Gorlin syndrome region while retaining the mutant copy. These results suggested to them that a somatic mutation of a particular gene in an embryonic or fetal cell leads to abnormal migration, or differentiation, or perhaps failure to undergo programmed cell death, manifested later as a developmental defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8528259" 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="#80" class="mim-tip-reference" title="Wicking, C., Shanley, S., Smyth, I., Gillies, S., Negus, K., Graham, S., Suthers, G., Haites, N., Edwards, M., Wainwright, B., Chenevix-Trench, G. &lt;strong&gt;Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.&lt;/strong&gt; Am. J. Hum. Genet. 60: 21-26, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8981943/&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;8981943&lt;/a&gt;]" pmid="8981943">Wicking et al. (1997)</a> screened 71 unrelated individuals with NBCCS for mutations in the PTCH exons. They identified 28 mutations that were distributed throughout the entire gene and predicted that 86% would cause protein truncation. <a href="#80" class="mim-tip-reference" title="Wicking, C., Shanley, S., Smyth, I., Gillies, S., Negus, K., Graham, S., Suthers, G., Haites, N., Edwards, M., Wainwright, B., Chenevix-Trench, G. &lt;strong&gt;Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.&lt;/strong&gt; Am. J. Hum. Genet. 60: 21-26, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8981943/&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;8981943&lt;/a&gt;]" pmid="8981943">Wicking et al. (1997)</a> identified 3 families bearing identical genotypes with variable phenotypes. From this they concluded that phenotypic variability in NBCCS is a complex genetic event. No phenotype/genotype correlation between the position of the truncation mutations and major clinical features was evident. <a href="#80" class="mim-tip-reference" title="Wicking, C., Shanley, S., Smyth, I., Gillies, S., Negus, K., Graham, S., Suthers, G., Haites, N., Edwards, M., Wainwright, B., Chenevix-Trench, G. &lt;strong&gt;Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.&lt;/strong&gt; Am. J. Hum. Genet. 60: 21-26, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8981943/&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;8981943&lt;/a&gt;]" pmid="8981943">Wicking et al. (1997)</a> concluded that the preponderance of truncation mutations in the germline of NBCCS patients suggests that the developmental defects associated with NBCCS are likely due to haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981943" 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="#6" class="mim-tip-reference" title="Bale, A. E. &lt;strong&gt;Variable expressivity of patched mutations in flies and humans. (Editorial)&lt;/strong&gt; Am. J. Hum. Genet. 60: 10-12, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8981940/&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;8981940&lt;/a&gt;]" pmid="8981940">Bale (1997)</a> reviewed factors contributing to the variable expressivity of PTCH mutations in NBCCS. He reported that clinical features of NBCCS syndrome differ more among families than within families. <a href="#75" class="mim-tip-reference" title="Shimkets, R., Gailani, M. R., Siu, V. M., Yang-Feng, T., Pressman, C. L., Levanat, S., Goldstein, A., Dean, M., Bale, A. E. &lt;strong&gt;Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.&lt;/strong&gt; Am. J. Hum. Genet. 59: 417-422, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8755929/&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;8755929&lt;/a&gt;]" pmid="8755929">Shimkets et al. (1996)</a> reported 2 patients with small interstitial deletions on chromosome 9q which involved the PTCH gene. Phenotypes of the 2 patients differed with respect to several key findings (e.g., occurrence of jaw cysts, palmar pits, and skeletal abnormalities). <a href="#6" class="mim-tip-reference" title="Bale, A. E. &lt;strong&gt;Variable expressivity of patched mutations in flies and humans. (Editorial)&lt;/strong&gt; Am. J. Hum. Genet. 60: 10-12, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8981940/&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;8981940&lt;/a&gt;]" pmid="8981940">Bale (1997)</a> noted that developmental defects may also arise through a 2-hit mechanism and he reviewed evidence for loss of the normal allele in epithelial cells lining jaw cysts. <a href="#6" class="mim-tip-reference" title="Bale, A. E. &lt;strong&gt;Variable expressivity of patched mutations in flies and humans. (Editorial)&lt;/strong&gt; Am. J. Hum. Genet. 60: 10-12, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8981940/&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;8981940&lt;/a&gt;]" pmid="8981940">Bale (1997)</a> noted the absence of genotype/phenotype correlations in NBCCS and concluded that modifying genes and germline variants resulting in hypomorphic or hypermorphic alleles may play an important role in determining the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8981940+8755929" 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>Population Genetics</strong>
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<p><a href="#21" class="mim-tip-reference" title="Farndon, P. A., Del Mastro, R. G., Evans, D. G. R., Kilpatrick, M. W. &lt;strong&gt;Location of gene for Gorlin syndrome.&lt;/strong&gt; Lancet 339: 581-582, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1347096/&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;1347096&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(92)90868-4&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="1347096">Farndon et al. (1992)</a> estimated that the minimum prevalence of basal cell nevus syndrome is 1 per 57,000; 1 in 200 patients with basal cell carcinomas had the syndrome, but the proportion was much higher among those in whom a basal cell carcinoma developed before age 19. Only a few of the nevi grew and became locally invasive, and basal cell carcinomas did not develop at all in about 15% of affected persons. In some cases, radiation treatment resulted in fresh crops of aggressive basal cell carcinomas and led to severe disfigurement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1347096" 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>History</strong>
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<p>Although Gorlin has described many syndromes, several of which have been given his name, none is more intimately connected with his name than the basal cell nevus syndrome. See <a href="#35" class="mim-tip-reference" title="Gorlin, R. J. &lt;strong&gt;From oral pathology to craniofacial genetics.&lt;/strong&gt; Am. J. Med. Genet. 46: 317-334, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8488879/&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;8488879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460317&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="8488879">Gorlin (1993)</a> for an autobiography. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8488879" 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>Multiple basal cell naevus syndrome was described in ancient Egypt (<a href="#71" class="mim-tip-reference" title="Satinoff, M. I., Wells, C. &lt;strong&gt;Multiple basal cell naevus syndrome in ancient Egypt.&lt;/strong&gt; Med. Hist. 13: 294-297, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4893629/&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;4893629&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/s0025727300014563&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="4893629">Satinoff and Wells, 1969</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4893629" 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>Loose linkage to Rh was suggested by <a href="#3" class="mim-tip-reference" title="Anderson, D. E. &lt;strong&gt;Linkage analysis of the nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Ann. Hum. Genet. 32: 113-123, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5715624/&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;5715624&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1469-1809.1968.tb00056.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="5715624">Anderson (1968)</a> and to Charcot-Marie-Tooth disease (CMT1B; <a href="/entry/118200">118200</a>) by <a href="#40" class="mim-tip-reference" title="Heimler, A., Friedman, E., Rosenthal, A. &lt;strong&gt;Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease.&lt;/strong&gt; J. Med. Genet. 15: 288-291, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/712760/&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;712760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.15.4.288&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="712760">Heimler et al. (1978)</a>, both on chromosome 1. <a href="#4" class="mim-tip-reference" title="Bale, A. E., Bale, S. J., Mulvihill, J. J. &lt;strong&gt;Linkage between the nevoid basal cell carcinoma syndrome (NBCCS) gene and chromosome 1 markers. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 37: A44 only, 1985."None>Bale et al. (1985)</a> provided a suggestion of linkage to amylase-2 (AMY2A; <a href="/entry/104650">104650</a>) at 1p21. <a href="#63" class="mim-tip-reference" title="McConville, C. M., Taylor, A. M. R., Byrd, P. J., Woolgar, J. A., Hollis, R. &lt;strong&gt;Basal cell naevus syndrome and N-ras polymorphism. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 46: 660 only, 1987."None>McConville et al. (1987)</a> investigated linkage of BCNS with the NRAS oncogene locus (<a href="/entry/164790">164790</a>) on 1p13. However, <a href="#23" class="mim-tip-reference" title="Farndon, P. A., Simmons, J. &lt;strong&gt;Linkage analysis of the naevoid basal cell carcinoma syndrome (NBCCS) and chromosome 1 markers. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 46: 612 only, 1987."None>Farndon and Simmons (1987)</a> found negative lod scores with 5 markers on chromosome 1, suggesting that BCNS may not be on that chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5715624+712760" 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 1 of 5 affected related individuals, <a href="#25" class="mim-tip-reference" title="Fletcher, J. A., Morton, C. C. &lt;strong&gt;Basal cell nevus syndrome: cytogenetic evidence for a genetic origin in common with familial adenomatous polyposis. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 43: A23 only, 1988."None>Fletcher and Morton (1988)</a> found a constitutional chromosomal rearrangement involving chromosomes 5 and 15. The site involved on chromosome 5 was in the same approximate region on the long arm as that involved in adenomatous polyposis coli (APC; <a href="/entry/611731">611731</a>). <a href="#25" class="mim-tip-reference" title="Fletcher, J. A., Morton, C. C. &lt;strong&gt;Basal cell nevus syndrome: cytogenetic evidence for a genetic origin in common with familial adenomatous polyposis. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 43: A23 only, 1988."None>Fletcher and Morton (1988)</a> noted similarities between BCNS and Gardner syndrome and proposed that they may be genetically related.</p>
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<a href="#Anderson1966" class="mim-tip-reference" title="Anderson, D. E., Cook, W. A. &lt;strong&gt;Jaw cysts and basal cell nevus syndrome.&lt;/strong&gt; J. Oral Surg. 24: 15-26, 1966.">Anderson and Cook (1966)</a>; <a href="#Bale1995" class="mim-tip-reference" title="Bale, A. E., Gailani, M. R., Leffell, D. J. &lt;strong&gt;The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development.&lt;/strong&gt; Proc. Assoc. Am. Phys. 107: 253-257, 1995.">Bale et al. (1995)</a>; <a href="#Dahl1976" class="mim-tip-reference" title="Dahl, E., Kreiborg, S., Jensen, B. L. &lt;strong&gt;Craniofacial morphology in the nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Int. J. Oral Surg. 5: 300-310, 1976.">Dahl et al. (1976)</a>; <a href="#Gorlin1976" class="mim-tip-reference" title="Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr. &lt;strong&gt;Syndromes of the Head and Neck. (2nd ed.)&lt;/strong&gt; New York: Blakiston Division, McGraw-Hill (pub.) 1976. Pp. 520-526.">Gorlin et al. (1976)</a>; <a href="#Gorlin1971" class="mim-tip-reference" title="Gorlin, R. J., Sedano, H. O. &lt;strong&gt;The multiple nevoid basal cell carcinoma syndrome revisited.&lt;/strong&gt; Birth Defects Orig. Art. Ser. VII(8): 140-148, 1971.">Gorlin and Sedano (1971)</a>; <a href="#Gorlin1987" class="mim-tip-reference" title="Gorlin, R. J. &lt;strong&gt;Nevoid basal-cell carcinoma syndrome.&lt;/strong&gt; Medicine 66: 98-113, 1987.">Gorlin (1987)</a>; <a href="#Gundlach1979" class="mim-tip-reference" title="Gundlach, K. K. H., Kiehn, M. &lt;strong&gt;Multiple basal cell carcinoma and keratocysts--the Gorlin and Goltz syndrome.&lt;/strong&gt; J. Maxillofac. Surg. 7: 299-307, 1979.">Gundlach and Kiehn (1979)</a>; <a href="#Howell1970" class="mim-tip-reference" title="Howell, J. B., Mehregan, A. H. &lt;strong&gt;Pursuit of the pits in the nevoid basal cell carcinoma syndrome.&lt;/strong&gt; Arch. Derm. 102: 586-597, 1970.">Howell and Mehregan (1970)</a>; <a href="#Lorenz1978" class="mim-tip-reference" title="Lorenz, R., Fuhrmann, W. &lt;strong&gt;Familial basal cell nevus syndrome.&lt;/strong&gt; Hum. Genet. 44: 153-163, 1978.">Lorenz and
Fuhrmann (1978)</a>; <a href="#Southwick1979" class="mim-tip-reference" title="Southwick, G. J., Schwartz, R. A. &lt;strong&gt;The basal cell nevus syndrome: disasters occurring among a series of 36 patients.&lt;/strong&gt; Cancer 44: 2294-2305, 1979.">Southwick and Schwartz (1979)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Anderson1966" class="mim-anchor"></a>
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Anderson, D. E., Cook, W. A.
<strong>Jaw cysts and basal cell nevus syndrome.</strong>
J. Oral Surg. 24: 15-26, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5214558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5214558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5214558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Anderson1967" class="mim-anchor"></a>
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<p class="mim-text-font">
Anderson, D. E., Taylor, W. B., Falls, H. F., Davidson, R. T.
<strong>The nevoid basal cell carcinoma syndrome.</strong>
Am. J. Hum. Genet. 19: 12-22, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4960000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4960000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4960000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Anderson1968" class="mim-anchor"></a>
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Anderson, D. E.
<strong>Linkage analysis of the nevoid basal cell carcinoma syndrome.</strong>
Ann. Hum. Genet. 32: 113-123, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5715624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5715624</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5715624" 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.1469-1809.1968.tb00056.x" target="_blank">Full Text</a>]
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<a id="Bale1985" class="mim-anchor"></a>
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Bale, A. E., Bale, S. J., Mulvihill, J. J.
<strong>Linkage between the nevoid basal cell carcinoma syndrome (NBCCS) gene and chromosome 1 markers. (Abstract)</strong>
Am. J. Hum. Genet. 37: A44 only, 1985.
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<a id="Bale1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
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[<a href="https://doi.org/10.7326/0003-4819-64-2-403" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(94)91810-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1067/mjd.2001.112399" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9378(63)90094-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00343432" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0300-9785(76)80031-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.1985.01050120067022" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/bjc.1991.435" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.30.6.460" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.66.10_spec_no.1162" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0140-6736(92)90868-4" target="_blank">Full Text</a>]
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<strong>Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3.</strong>
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[<a href="https://doi.org/10.1006/geno.1994.1528" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20082" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(92)90122-s" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0165-4608(86)90097-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320500311" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(00)81268-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0190-9622(98)70585-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.15.4.288" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.272.5268.1668" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(75)80709-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-8703(86)90664-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(68)90119-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10301" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19970331)69:3&lt;309::aid-ajmg17&gt;3.0.co;2-v" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10432" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.bdj.4800970" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0196-85" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2214/ajr.103.1.214" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.1999.550106.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00295408" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20367" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1684/ejd.2009.0627" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198603133141108" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00019605-200304000-00016" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0140-6736(92)90903-g" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1017/s0025727300014563" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archderm.99.1.131" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320500312" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1097-0142(197912)44:6&lt;2294::aid-cncr2820440644&gt;3.0.co;2-g" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1097-0142(19800915)46:6&lt;1456::aid-cncr2820460627&gt;3.0.co;2-l" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1423" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Wicking, C., Shanley, S., Smyth, I., Gillies, S., Negus, K., Graham, S., Suthers, G., Haites, N., Edwards, M., Wainwright, B., Chenevix-Trench, G.
<strong>Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.</strong>
Am. J. Hum. Genet. 60: 21-26, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="81" class="mim-anchor"></a>
<a id="Wilson2006" class="mim-anchor"></a>
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Wilson, L. C., Ajayi-Obe, E., Bernhard, B., Maas, S. M.
<strong>Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.</strong>
Am. J. Med. Genet. 140A: 2625-2630, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16906569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16906569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906569" 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.a.31374" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 06/12/2024
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Carol A. Bocchini - updated : 05/21/2018<br>Marla J. F. O'Neill - updated : 11/5/2015<br>Ada Hamosh - updated : 4/16/2013<br>Cassandra L. Kniffin - updated : 1/7/2010<br>Marla J. F. O'Neill - updated : 12/4/2009<br>Matthew B. Gross - updated : 10/9/2008<br>Cassandra L. Kniffin - reorganized : 6/16/2008<br>Cassandra L. Kniffin - updated : 6/5/2008<br>Victor A. McKusick - updated : 2/23/2007<br>Marla J. F. O'Neill - updated : 6/23/2004<br>Siobhan M. Dolan - updated : 3/5/2004<br>Gary A. Bellus - updated : 2/3/2003<br>Deborah L. Stone - updated : 10/11/2002<br>Victor A. McKusick - updated : 4/29/2002<br>Victor A. McKusick - updated : 1/14/2002<br>Jane Kelly - updated : 9/20/2001<br>Wilson H. Y. Lo - updated : 8/19/1999<br>Victor A. McKusick - updated : 3/15/1999<br>Victor A. McKusick - updated : 5/13/1997<br>Moyra Smith - updated : 1/24/1997<br>Moyra Smith - updated : 10/1/1996<br>Moyra Smith - updated : 7/1/1996<br>Moyra Smith - updated : 6/14/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 09/16/2024
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carol : 06/12/2024<br>carol : 04/25/2023<br>carol : 04/25/2023<br>carol : 04/24/2023<br>carol : 04/21/2023<br>carol : 03/19/2020<br>carol : 05/14/2019<br>carol : 05/21/2018<br>carol : 08/05/2016<br>carol : 07/09/2016<br>carol : 11/23/2015<br>alopez : 11/20/2015<br>alopez : 11/5/2015<br>mcolton : 3/4/2015<br>alopez : 4/16/2013<br>terry : 7/3/2012<br>wwang : 1/22/2010<br>ckniffin : 1/7/2010<br>carol : 12/23/2009<br>terry : 12/4/2009<br>alopez : 10/1/2009<br>alopez : 3/20/2009<br>mgross : 10/9/2008<br>carol : 6/16/2008<br>ckniffin : 6/5/2008<br>ckniffin : 2/5/2008<br>carol : 7/12/2007<br>wwang : 3/1/2007<br>terry : 2/23/2007<br>terry : 6/23/2006<br>carol : 1/18/2006<br>carol : 6/30/2004<br>terry : 6/23/2004<br>terry : 3/5/2004<br>alopez : 2/3/2003<br>carol : 10/11/2002<br>carol : 10/11/2002<br>cwells : 5/28/2002<br>cwells : 5/17/2002<br>terry : 4/29/2002<br>carol : 1/14/2002<br>mcapotos : 10/2/2001<br>mcapotos : 9/20/2001<br>mcapotos : 9/20/2001<br>carol : 6/8/2001<br>carol : 8/25/1999<br>carol : 8/19/1999<br>carol : 8/19/1999<br>carol : 5/26/1999<br>terry : 3/15/1999<br>terry : 11/18/1998<br>terry : 11/16/1998<br>terry : 11/10/1998<br>mark : 9/22/1997<br>alopez : 5/13/1997<br>mark : 5/13/1997<br>terry : 5/10/1997<br>terry : 5/10/1997<br>mark : 5/6/1997<br>terry : 3/17/1997<br>terry : 1/28/1997<br>terry : 1/24/1997<br>mark : 10/1/1996<br>mark : 8/7/1996<br>mark : 7/2/1996<br>mark : 7/2/1996<br>terry : 7/2/1996<br>mark : 7/1/1996<br>mark : 6/18/1996<br>terry : 6/17/1996<br>terry : 6/17/1996<br>mark : 6/14/1996<br>mark : 3/14/1996<br>terry : 2/29/1996<br>mark : 1/8/1996<br>terry : 1/4/1996<br>mark : 7/26/1995<br>terry : 12/22/1994<br>davew : 7/27/1994<br>mimadm : 4/17/1994<br>warfield : 4/7/1994<br>carol : 4/1/1994
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<strong>#</strong> 109400
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BASAL CELL NEVUS SYNDROME 1; BCNS1
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<em>Alternative titles; symbols</em>
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BASAL CELL NEVUS SYNDROME; BCNS<br />
GORLIN SYNDROME<br />
GORLIN-GOLTZ SYNDROME<br />
NEVOID BASAL CELL CARCINOMA SYNDROME; NBCCS<br />
MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
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<strong>SNOMEDCT:</strong> 69408002; &nbsp;
<strong>ORPHA:</strong> 377; &nbsp;
<strong>DO:</strong> 0070365; &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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9q22.32
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Basal cell nevus syndrome 1
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109400
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Autosomal dominant
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3
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PTCH1
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601309
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because basal cell nevus syndrome-1 (BCNS1) is caused by heterozygous mutation in the PTCH1 gene (601309) on chromosome 9q22.</p>
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<strong>Description</strong>
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<p>The basal cell nevus syndrome (BCNS) is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002). </p><p><strong><em>Genetic Heterogeneity of Basal Cell Nevus Syndrome</em></strong></p><p>
See also BCNS2, caused by mutation in the SUFU gene (607035) on chromosome 10q24.</p>
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<strong>Clinical Features</strong>
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<p>Gorlin and Goltz (1960) described a familial syndrome comprising multiple nevoid basal-cell epitheliomas, jaw cysts, and bifid rib. Inheritance was autosomal dominant. </p><p>Herzberg and Wiskemann (1963) described what they termed the 'fifth phakomatosis,' basal cell nevus syndrome with medulloblastoma. They reported a family in which both father and son had basal cell nevi, with the son also having medulloblastoma and congenital thoracic scoliosis. Cawson and Kerr (1964) described a syndrome of jaw cysts, basal cell tumors, and skeletal abnormalities. One of the patients had astrocytoma with severe hydrocephalus. Other features included pits of the palms and soles. Lile et al. (1968) observed 4 cases in 3 generations of a family. Two of the patients had a short terminal phalanx of the thumb. </p><p>Berlin et al. (1966) observed ovarian carcinoma in association with this syndrome. Huge calcified ovarian fibromas were present in a clinicopathologic conference (CPC) case discussed by Holmes (1976) at the Massachusetts General Hospital. The occurrence of lymphomesenteric cysts, described by Clendenning et al. (1963), was emphasized in another CPC case by Ottinger and Vickery (1986). </p><p>Holubar et al. (1970) found basal cell epitheliomas in multiple palmar pits in an 8-year-old girl with BCNS. Schwartz (1978) noted hamartomatous polyps of the stomach and mesenteric cysts as features of the basal cell nevus syndrome. Totten (1980) observed a large congenital lung cyst occupying the left thoracic cavity in an affected patient. </p><p>Cramer and Niederdellmann (1983) described 9 subjects from 3 families with cerebral gigantism syndrome (117550); 7 of the patients also had signs of the basal cell nevus syndrome. In 1 family, a father was 193 cm tall at age 45 and his son was 197 cm tall at age 18; both had jaw cysts and other signs of basal cell nevus syndrome. Another son was 198 cm tall at age 17 years. Macrocephaly, mild hydrocephalus, intracranial calcification, and EEG abnormalities were also described. </p><p>McKusick (1985) observed unilateral coloboma of the iris and glaucoma in a patient with BCNS. Levine et al. (1987) described subconjunctival epithelial cysts presenting a dramatic appearance of everted upper eyelids in patients with this condition. </p><p>De Jong et al. (1985) described 4 patients with Gorlin syndrome, 1 of whom had been reported as case 2 by Hermans et al. (1965), who all exhibited prominent medullated retinal nerve fibers, either unilaterally or bilaterally. The authors stated that review of the literature revealed 4 more patients with Gorlin syndrome and medullated retinal nerve fibers (Anderson et al., 1967; Cernea et al., 1969; Hammami et al., 1976; Poissonnet et al., 1977). De Jong et al. (1985) concluded that medullated retinal nerve fibers represent an additional ophthalmologic manifestation of Gorlin syndrome. </p><p>Jones et al. (1986) reported a woman with Gorlin syndrome who underwent cardiac transplantation for an unresectable fibrous histiocytoma of the left ventricle at age 19 years (Jamieson et al., 1981). She had a marfanoid habitus, frontal bossing with large occipitofrontal circumference, ocular hypertelorism, broad nasal root, enlarged jaw, glaucoma, long fingers, multiple odontogenic keratocysts, postaxial polydactyly of right foot, and bony bridging of right metatarsals 4 and 5. </p><p>Evans et al. (1991) found abnormal ribs in 2 infants delivered preterm at 29 and 25 weeks. The finding at first was thought unimportant but subsequently was shown to indicate that some members of their families had Gorlin syndrome. In the first case, early routine chest radiographs showed an incidental finding of bifid ribs. The 25-year-old father had a dislocated shoulder from birth due to Sprengel deformity (184400), pronounced frontal bossing with enlarged head, hypertelorism, calcification of the falx cerebri, pituitary fossa totally bridged by bone, and bilateral bifid ribs. A 5-year-old brother had calcifications within the falx cerebri. A 4-year-old brother had been diagnosed as having arrested congenital hydrocephalus, and chest radiograph showed 2 bifid ribs. The second index patient had possible Sprengel deformity in addition to bifid ribs. This patient's mother had had 5 jaw cysts removed between ages 11 and 31. She also had an enlarged head with pronounced frontal bossing, pits in the palms of her hands and feet, multiple milia on her forehead, and hypertelorism. Radiographs showed scoliosis, calcified ovarian fibroma, calcification of the falx cerebri, and minor rib anomalies. </p><p>Evans et al. (1993) reported the clinical complications of this disorder in 84 patients. Basal cell carcinomas and jaw cysts occurred in more than 90% of patients by 40 years of age, but both sometimes occurred before 10 years of age. Less well-described complications included ovarian calcification or fibroma (24%), medulloblastoma (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or cataract (26%). Shanley et al. (1994) identified 118 cases in Australia. The frequency of most manifestations were similar to those reported by Evans et al. (1993). A major difference, however, was that the multiple basal cell carcinomas were manifest from an earlier age in the Australian population, which was considered to reflect greater exposure to ultraviolet radiation. Of the 64 families ascertained, 37 represented sporadic cases, and accordingly the new mutation rate appeared to be high. Multiple BCCs occurred before age 20 years in 90 (75%) of 118 cases. </p><p>Goldstein et al. (1994) examined 11 African Americans from 2 families with Gorlin syndrome, which they abbreviated 'NBCC' for nevoid basal cell carcinoma syndrome. They also reviewed the literature on this condition in African Americans. African Americans tended to have reduced expression of the basal cell carcinomas but full expression of other syndrome components. The 3 most common findings in their 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri. Only 4 of the 11 had 1 or more confirmed basal cell carcinomas, whereas the frequency of basal cell carcinomas in whites had been estimated at 90%. </p><p>Kimonis et al. (1997) reviewed the findings in 105 individuals with Gorlin syndrome examined at the NIH since 1985. The data derived from 48 males and 57 females ranging in age from 4 months to 87 years. They found that 80% of whites (71 of 90) and 38% of African Americans (5 of 13) had at least 1 basal cell carcinoma, with the first tumor occurring at a mean age of 23 and 21 years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to more than 1,000, and 1 to 3, respectively, in the 2 ethnic groups. Other features included jaw cysts (74%), palmar pits and plantar pits (87%), and ovarian fibromas (17%). Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings included coarse facies (54%), relative macrocephaly (50%), hypertelorism (42%), frontal bossing (27%), pectus deformity (13%), and Sprengel deformity (11%). Important radiologic signs included calcification of the falx cerebri (65%), of the tentorium cerebelli (20%), bridged sella (68%), bifid ribs (26%), hemivertebrae (15%), fusion of the vertebral bodies (10%), and flame-shaped lucencies of the phalanges, metacarpal, and carpal bones of the hands (30%). Several traits previously considered components of the syndrome, such as short fourth metacarpal, scoliosis, cervical ribs, and spina bifida occulta, were not found to be significantly increased in the affected individuals. </p><p>Korczak et al. (1997) reported an African American boy who developed medulloblastoma at age 2 years. He was treated with surgery, chemotherapy, and craniospinal irradiation. He was diagnosed with Gorlin syndrome at age 6 following identification of a large odontogenic keratocyst of the mandible, pits of the palms and soles, and numerous BCCs in the area of the back and neck that had been irradiated previously. Examination of other relatives showed that the mother also had Gorlin syndrome but was more mildly affected; in particular, she had no BCCs. This family illustrated a complex gene-environment interaction. Increased skin pigmentation in African Americans was presumably protective against UV, but not ionizing, radiation. Similar cases in the literature illustrated the importance of considering Gorlin syndrome in the differential diagnosis of any patient who presents with a medulloblastoma, especially before the age of 5 years. Korczak et al. (1997) also concluded that for individuals who are radiosensitive, protocols that utilize chemotherapy in lieu of radiotherapy should be considered. </p><p>Hall et al. (1998) reported an 11-year-old African American boy with NBCCS who presented with exotropia and a painful, expanding, cystic mass in the left posterior alveolar ridge. An impacted molar was displaced into the orbit by an odontogenic keratocyst. Further examination revealed palmar and plantar pitting. </p><p>Lo Muzio et al. (1999) described the clinical features of Gorlin syndrome in northern Italy. Aside from the many features previously reported, other manifestations included benign dermal cysts, impacted teeth, dental ectopy, exophthalmos, ovarian cysts, and calcification of tentorium cerebelli. The relatively lower percentage of patients with basal cell carcinomas (30%) may have been related to the protective skin pigmentation in the Italian population, as has already been established in African Americans. </p><p>Honavar et al. (2001) reviewed 105 consecutive patients with eyelid basal cell carcinoma and found 4 patients with Gorlin-Goltz syndrome, all of whom had a family history of this disorder. Common systemic manifestations included multiple basal cell carcinomas, frontal bossing or increased occipitofrontal circumference, palmar pits, odontogenic keratocyst, ectopic calcification, and bifid ribs. The mean age at detection of the first basal cell carcinoma was 30 years (range, 16-38 years). The eyelid basal cell carcinomas were advanced with orbital infiltration in 3 patients, 1 of whom opted for palliative radiotherapy and 2 of whom underwent orbital exenteration. The fourth patient underwent local reexcision of recurrent basal cell carcinoma with upper eyelid reconstruction. After 41 months' mean follow-up, 3 patients were cured of eyelid basal cell carcinoma and 1 was stable. No patient had life-threatening sequelae of Gorlin-Goltz syndrome. The authors concluded that lifelong monitoring is essential for patient management in Gorlin-Goltz syndrome. </p><p>Acrochordons are distinctly uncommon in childhood. Chiritescu and Maloney (2001) evaluated 7 children who presented with pedunculated papules (acrochordon-like growths). Histopathologic examination of these papules showed basal cell carcinomas in each biopsy specimen. Further physical examination of the subjects and family members confirmed a diagnosis of NBCCS in all 7 children. Chiritescu and Maloney (2001) considered that 'skin tag'-like basal cell carcinomas in childhood may represent a marker for NBCCS and that early diagnosis of this syndrome and early sun protection of the affected children could help decrease the number of lifetime tumors. </p><p>Leonardi et al. (2001) reported a patient with NBCCS who had bilateral mandibular coronoid process hyperplasia, a condition that causes a progressive and painless limitation of jaw movements, especially in opening. Leonardi et al. (2002) examined 10 patients with NBCCS for mandibular coronoid process hyperplasia and found that 4 were affected. They suggested that coronoid hyperplasia may be a radiologic criterion for NBCCS and may help in establishing a diagnosis, especially in pediatric patients. </p><p>Koch et al. (2002) described a 13-year-old boy with NBCCS who presented with right-sided abdominal pain and was found to have a mesenchymal hepatic tumor. At the age of 3 years he had had treatment of a medulloblastoma by resection and irradiation. The diagnosis of NBCCS was made at the age of 9 on the basis of palmar pits and odontogenic keratocysts of the mandible and maxilla. Multiple basal cell carcinomas developed on his forehead and occipital scalp the following year. The hepatic mass, removed at the age of 13 years, was found to be a mesenchymal tumor of low cellularity, composed of elongated cells embedded in a myxoid matrix. Nuclei were small and elongated, with no nuclear pleomorphism or mitoses. These findings were considered consistent with a benign mesenchymal tumor in the liver. The patient remained asymptomatic without evidence of recurrence at the 18-month follow-up. The mother and older brother were thought to have NBCCS; the paternal grandmother had surgical resection for medulloblastoma, but apparently had no other features of NBCCS. With studies of markers that mapped to the PTCH gene locus at 9q23, loss of heterozygosity in that region was evident in DNA samples from basal cell carcinoma, medulloblastoma, and a mesenchymal hepatic tumor. On the basis of Knudson's 2-hit hypothesis, Koch et al. (2002) concluded that mesenchymal tumors, such as the hepatic fibromyxoid tumor in their patient, may be another complication of NBCCS. They referred to the report by Darling et al. (1997) as another example of benign mesenchymal tumors occurring in another hereditary neoplastic disorder, multiple endocrine neoplasia type I (MEN1; 131100). </p><p>Ozturk et al. (2003) reported a mother and daughter with Gorlin syndrome who had calcification of the falx cerebri and tentorium cerebelli and dysgenesis of the corpus callosum and vermis. Vermian dysgenesis was detected in both mother and daughter, suggesting a previously unrecognized finding associated with the disorder. </p><p>Fujii et al. (2003) reported a 14-year-old Japanese girl with Gorlin syndrome and ulcerative colitis (see 266600). She had complained of blood stools for 6 months and had exhibited severe scoliosis since infancy. Physical examination revealed multiple nevi, palmar and plantar pits, jaw cysts, and calcification of the falx cerebri, consistent with the diagnosis of Gorlin syndrome. Total colonoscopy revealed an edematous and spotty bleeding mucosa extending from the anus to the transverse colon, and histologic examination was compatible with ulcerative colitis. Fujii et al. (2003) noted that Katz et al. (1968) and Sawyer and Braverman (1969) had also reported Gorlin syndrome associated with inflammatory bowel disease. </p><p>Wilson et al. (2006) reported on the occurrence of discrete patches of unusually long pigmented hair on the skin of 3 patients with Gorlin syndrome from 2 unrelated families with confirmed heterozygous PTCH1 mutation. The SHH (600725)-PTCH1 pathway is known to play an important role in the formation and cycling of hair follicles. Wilson et al. (2006) suggested that these discrete patches of hair represented genuine physical signs associated with Gorlin syndrome and discussed molecular mechanisms by which they might arise. </p><p>Nakamura and Tokura (2009) reported a 21-year-old Japanese woman with BCNS1 who had palmoplantar pits and multiple jaw cysts for which she had undergone surgery. Her limb development and facial appearance were unremarkable, and examination did not reveal any skin tumors. She had a brother and sister with multiple jaw cysts for which they too had undergone surgery, and her brother also had palmoplantar pits. There was no history of basal cell carcinoma or consanguinity in the family. </p><p>Kimonis et al. (2013) studied minor and major clinical features in 30 children and teenagers and compared the findings with 75 adults from 26 families with nevoid basal cell carcinoma syndrome. Fifty percent of children/teenagers and 82% of adults had at least one basal cell carcinoma. Jaw cysts occurred in 60% of children/teenagers and 81% of adults. Palmar/plantar pits were the most frequent feature seen in affected individuals at all ages. Macrocephaly was seen in 50% of affected and 8% of unaffected children/teenagers. Frontal bossing, hypertelorism, Sprengel deformity, pectus deformity, and cleft lip/palate were seen among affected children/teenagers but not among their unaffected sibs. Falx calcification was seen in 37% of individuals under 20 and 79% of those over 20 years of age. Kimonis et al. (2013) suggested evaluation for palmar/plantar pits, craniofacial features, and radiologic manifestations to permit early diagnosis and optimum surveillance of nevoid basal cell carcinoma syndrome. </p>
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<strong>Inheritance</strong>
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<p>About 40% of cases represent a de novo mutation (Gorlin, 1982). Jones et al. (1975) found evidence of paternal age effect in new mutations for this disorder. </p>
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<strong>Diagnosis</strong>
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</div>
<span class="mim-text-font">
<p>Kimonis et al. (1997) tabulated major and minor criteria that could be used in making the diagnosis of Gorlin syndrome by the presence of 2 major or 1 major and 2 minor criteria. They suggested that a child who is at risk for having inherited the gene should have careful physical examination at birth for pits and other minor features and radiologic evaluation with rib, skull, and spine films to look for skeletal abnormalities. In their study, the risk of developing a medulloblastoma was greatest between 2 and 3 years; however, such had been reported up to age 7 years (Evans et al., 1991). Kimonis et al. (1997) suggested that advising patients to reduce exposure to UV radiation may lessen their risk of developing BCCs. Radiation therapy should also be avoided, but this is understandably difficult when there is a need to make the diagnosis and provide for proper surveillance. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Bialer et al. (1994) made the prenatal diagnosis of Gorlin syndrome in a pregnancy sired by a man with Gorlin syndrome. There were 2 other affected members in the family. Polymorphic DNA markers on chromosome 9 were used and the fetal diagnosis was confirmed by ultrasound scan which showed unilateral cleft lip, probable cleft palate, and hydrocephalus. The parents elected to terminate the pregnancy and examination of the fetus revealed aqueductal stenosis, cleft lip, and cleft palate with a prominent forehead and macrocephaly. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By linkage analysis, Farndon et al. (1992) localized BCNS to chromosome 9q22.3-q31 (maximum lod scores of 3.597 and 6.457 at markers D9S12 and D9S53). Reis et al. (1992) confirmed the assignment to chromosome 9 and concluded that D9S43 is centromeric to BCNS and that GSN (137350) and ASS (603470) are telomeric to BCNS. </p><p>In their collection of Australasian pedigrees, Wicking et al. (1994) further refined the localization of the BCNS gene to a 2-cM interval between D9S196 and D9S180. Farndon et al. (1994) concluded that the gene involved with NBCCS lies in a 2.6-cM interval centromeric to D9S287. Recombinants also mapped the gene for Fanconi anemia, group C (FANCC; 227645) to the same region (maximum lod score of 5.601). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Gibbs et al. (1986) found no chromosomal abnormalities in 6 BCNS patients from 4 families. </p><p>Gailani et al. (1992) found allelic loss in the chromosome 9q31 region in 11 of 16 sporadic basal cell carcinomas, in 2 hereditary basal cell carcinomas, and in 1 hereditary ovarian fibroma. Furthermore, in a study of 5 Gorlin syndrome kindreds, tight linkage was found with a genetic marker in this region. </p><p>Among 15 Australasian pedigrees, Chenevix-Trench et al. (1993) demonstrated that the NBCCS gene was linked to markers in the same region of chromosome 9 with no evidence of significant heterogeneity. Loss of heterozygosity (LOH) was detected in half of sporadic cases of basal cell carcinoma, a rate significantly higher than that in other skin lesions used as controls. These findings suggested that sporadic basal cell carcinomas may be due to mutation in the same gene. </p><p>Shimkets et al. (1996) reported cytogenetic and molecular characterization of germline deletions in a patient with a chromosome 9q22 deletion and a second patient with a deletion of 9q22-q31. Both had typical features of Gorlin syndrome plus additional findings. Shimkets et al. (1996) noted that the fact that Gorlin syndrome can be caused by null mutations provided evidence that associated neoplasms arise with homozygous inactivation of the gene. </p><p>Midro et al. (2004) described an 11-year-old girl with an interstitial deletion of 9q22.32-q33.2 associated with a familial translocation t(9;17)(q34.11;p11.2) who had clinical features consistent with basal cell nevus syndrome and some features of nail-patella syndrome (NPS; 161200). The translocation breakpoint on 9q34.11 mapped proximal to the ABL gene (189980), between the BAC clone RP11-88G17 and the LMX1B gene (602575), which is mutated in nail-patella syndrome. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 2 unrelated patients with Gorlin syndrome, Johnson et al. (1996) identified different heterozygous mutations in the PTCH1 gene (601309.0001 and 601309.0002). Johnson et al. (1996) stated that PTCH1 is expressed in developing sclerotome, branchial arches, limbs, and spinal cord and in vertebrate skin and noted that the pattern of vertebrate gene expression was consistent with the abnormalities found in BCNS. </p><p>Simultaneously and independently, Hahn et al. (1996) identified heterozygous PTCH1 mutations in unrelated patients with BCNS (see, e.g., 601309.0003-601309.0005). The authors proposed that a reduction in the expression of the PTCH1 gene can lead to the developmental abnormalities observed in this syndrome and that complete loss of PTCH1 function contributes to the transformation of certain cell types. Two sporadic basal-cell carcinomas with allelic loss of the NBCCS region had inactivating PTCH1 mutations in the remaining allele. </p><p>Fujii et al. (2003) identified a heterozygous mutation in exon 9 of the PTCH1 gene (601309.0016) in a 14-year-old Japanese girl with Gorlin syndrome and ulcerative colitis. </p><p>Takahashi et al. (2009) identified 6 different heterozygous truncating germline mutations in the PTCH1 gene in 6 Japanese families with BCNS. There was no evidence of a founder effect. </p><p>In a 21-year-old Japanese woman with palmoplantar pits and multiple jaw cysts, Nakamura and Tokura (2009) directly sequenced the PTCH1 gene and identified heterozygosity for a missense mutation (V442E; 601309.0018). Her parents and an affected brother and sister declined to participate in the study. The mutation was not found in the Japanese SNP database. The authors noted that although Japan is a genetically closed island, no founder effect had been observed among Japanese NBCCS patients. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Patients with BCNS are abnormally sensitive to radiotherapeutic doses of ionizing radiation; several treated patients have developed an unusually large number of basal cell tumors in the irradiated area a short time after exposure. However, Featherstone et al. (1983) did not detect radiosensitivity at the cellular level. </p><p>Levanat et al. (1996) suggested a 2-hit mechanism for neoplasia in the Gorlin syndrome according to the Knudson model. The authors concluded that the causative gene probably functions as a tumor suppressor based on deletion of the relevant region of 9q found in many neoplasms occurring in the syndrome. Some of the associated developmental defects may also arise through a 2-hit mechanism. Like neoplasms in familial cancer predisposition syndromes, the jaw cysts in Gorlin syndrome are multiple and appear in a random pattern, but similar defects are seen occasionally as an isolated finding in the general population. Levanat et al. (1996) examined a series of chromosome 9 polymorphisms in abnormal and matched constitutional tissue and found that the lining of the jaw cysts lost the normal copy of the Gorlin syndrome region while retaining the mutant copy. These results suggested to them that a somatic mutation of a particular gene in an embryonic or fetal cell leads to abnormal migration, or differentiation, or perhaps failure to undergo programmed cell death, manifested later as a developmental defect. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Wicking et al. (1997) screened 71 unrelated individuals with NBCCS for mutations in the PTCH exons. They identified 28 mutations that were distributed throughout the entire gene and predicted that 86% would cause protein truncation. Wicking et al. (1997) identified 3 families bearing identical genotypes with variable phenotypes. From this they concluded that phenotypic variability in NBCCS is a complex genetic event. No phenotype/genotype correlation between the position of the truncation mutations and major clinical features was evident. Wicking et al. (1997) concluded that the preponderance of truncation mutations in the germline of NBCCS patients suggests that the developmental defects associated with NBCCS are likely due to haploinsufficiency. </p><p>Bale (1997) reviewed factors contributing to the variable expressivity of PTCH mutations in NBCCS. He reported that clinical features of NBCCS syndrome differ more among families than within families. Shimkets et al. (1996) reported 2 patients with small interstitial deletions on chromosome 9q which involved the PTCH gene. Phenotypes of the 2 patients differed with respect to several key findings (e.g., occurrence of jaw cysts, palmar pits, and skeletal abnormalities). Bale (1997) noted that developmental defects may also arise through a 2-hit mechanism and he reviewed evidence for loss of the normal allele in epithelial cells lining jaw cysts. Bale (1997) noted the absence of genotype/phenotype correlations in NBCCS and concluded that modifying genes and germline variants resulting in hypomorphic or hypermorphic alleles may play an important role in determining the phenotype. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Farndon et al. (1992) estimated that the minimum prevalence of basal cell nevus syndrome is 1 per 57,000; 1 in 200 patients with basal cell carcinomas had the syndrome, but the proportion was much higher among those in whom a basal cell carcinoma developed before age 19. Only a few of the nevi grew and became locally invasive, and basal cell carcinomas did not develop at all in about 15% of affected persons. In some cases, radiation treatment resulted in fresh crops of aggressive basal cell carcinomas and led to severe disfigurement. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Although Gorlin has described many syndromes, several of which have been given his name, none is more intimately connected with his name than the basal cell nevus syndrome. See Gorlin (1993) for an autobiography. </p><p>Multiple basal cell naevus syndrome was described in ancient Egypt (Satinoff and Wells, 1969). </p><p>Loose linkage to Rh was suggested by Anderson (1968) and to Charcot-Marie-Tooth disease (CMT1B; 118200) by Heimler et al. (1978), both on chromosome 1. Bale et al. (1985) provided a suggestion of linkage to amylase-2 (AMY2A; 104650) at 1p21. McConville et al. (1987) investigated linkage of BCNS with the NRAS oncogene locus (164790) on 1p13. However, Farndon and Simmons (1987) found negative lod scores with 5 markers on chromosome 1, suggesting that BCNS may not be on that chromosome. </p><p>In 1 of 5 affected related individuals, Fletcher and Morton (1988) found a constitutional chromosomal rearrangement involving chromosomes 5 and 15. The site involved on chromosome 5 was in the same approximate region on the long arm as that involved in adenomatous polyposis coli (APC; 611731). Fletcher and Morton (1988) noted similarities between BCNS and Gardner syndrome and proposed that they may be genetically related.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Anderson and Cook (1966); Bale et al. (1995); Dahl et al. (1976);
Gorlin et al. (1976); Gorlin and Sedano (1971); Gorlin (1987);
Gundlach and Kiehn (1979); Howell and Mehregan (1970); Lorenz and
Fuhrmann (1978); Southwick and Schwartz (1979)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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Anderson, D. E., Cook, W. A.
<strong>Jaw cysts and basal cell nevus syndrome.</strong>
J. Oral Surg. 24: 15-26, 1966.
[PubMed: 5214558]
</p>
</li>
<li>
<p class="mim-text-font">
Anderson, D. E., Taylor, W. B., Falls, H. F., Davidson, R. T.
<strong>The nevoid basal cell carcinoma syndrome.</strong>
Am. J. Hum. Genet. 19: 12-22, 1967.
[PubMed: 4960000]
</p>
</li>
<li>
<p class="mim-text-font">
Anderson, D. E.
<strong>Linkage analysis of the nevoid basal cell carcinoma syndrome.</strong>
Ann. Hum. Genet. 32: 113-123, 1968.
[PubMed: 5715624]
[Full Text: https://doi.org/10.1111/j.1469-1809.1968.tb00056.x]
</p>
</li>
<li>
<p class="mim-text-font">
Bale, A. E., Bale, S. J., Mulvihill, J. J.
<strong>Linkage between the nevoid basal cell carcinoma syndrome (NBCCS) gene and chromosome 1 markers. (Abstract)</strong>
Am. J. Hum. Genet. 37: A44 only, 1985.
</p>
</li>
<li>
<p class="mim-text-font">
Bale, A. E., Gailani, M. R., Leffell, D. J.
<strong>The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development.</strong>
Proc. Assoc. Am. Phys. 107: 253-257, 1995.
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<p class="mim-text-font">
Bale, A. E.
<strong>Variable expressivity of patched mutations in flies and humans. (Editorial)</strong>
Am. J. Hum. Genet. 60: 10-12, 1997.
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<p class="mim-text-font">
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<strong>Basal cell nevus syndrome.</strong>
Ann. Intern. Med. 64: 403-421, 1966.
[PubMed: 4285384]
[Full Text: https://doi.org/10.7326/0003-4819-64-2-403]
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<p class="mim-text-font">
Bialer, M. G., Gailani, M. R., McLaughlin, J. A., Petrikovsky, B., Bale, A. E.
<strong>Prenatal diagnosis of Gorlin syndrome. (Letter)</strong>
Lancet 344: 477 only, 1994.
[PubMed: 7914587]
[Full Text: https://doi.org/10.1016/s0140-6736(94)91810-4]
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<p class="mim-text-font">
Cawson, R. A., Kerr, G. A.
<strong>The syndrome of jaw cysts, basal cell tumours and skeletal anomalies.</strong>
Proc. Roy. Soc. Med. 57: 799-801, 1964.
[PubMed: 14208019]
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<p class="mim-text-font">
Cernea, P., Kuffer, R., Baumont, M., Brocheriou, C., Guilbert, F.
<strong>Naevomatose baso-cellulaire: association de naevi baso-cellulaires de la peau, de kystes epidermoides des maxillaires, de malformations osseuses et d&#x27;autres anomalies; 7 observations.</strong>
Revue de Stomatologie et de Chirurgie Maxillo-Faciale 70: 181-226, 1969.
[PubMed: 4388992]
</p>
</li>
<li>
<p class="mim-text-font">
Chenevix-Trench, G., Wicking, C., Berkman, J., Sharpe, H., Hockey, A., Haan, E., Oley, C., Ravine, D., Turner, A., Goldgar, D., Searle, J., Wainwright, B.
<strong>Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.</strong>
Am. J. Hum. Genet. 53: 760-767, 1993.
[PubMed: 8352281]
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<li>
<p class="mim-text-font">
Chiritescu, E., Maloney, M. E.
<strong>Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome.</strong>
J. Am. Acad. Derm. 44: 789-794, 2001.
[PubMed: 11312426]
[Full Text: https://doi.org/10.1067/mjd.2001.112399]
</p>
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<li>
<p class="mim-text-font">
Clendenning, W. E., Herdt, J. R., Block, J. B.
<strong>Ovarian fibromas and mesenteric cysts: their association with hereditary basal cell cancer of the skin.</strong>
Am. J. Obstet. Gynec. 87: 1008-1012, 1963.
[PubMed: 14089303]
[Full Text: https://doi.org/10.1016/0002-9378(63)90094-2]
</p>
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<li>
<p class="mim-text-font">
Cramer, H., Niederdellmann, H.
<strong>Cerebral gigantism associated with jaw cyst basal cell naevoid syndrome in two families.</strong>
Arch. Psychiat. Nervenkr. 233: 111-124, 1983.
[PubMed: 6882181]
[Full Text: https://doi.org/10.1007/BF00343432]
</p>
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<p class="mim-text-font">
Dahl, E., Kreiborg, S., Jensen, B. L.
<strong>Craniofacial morphology in the nevoid basal cell carcinoma syndrome.</strong>
Int. J. Oral Surg. 5: 300-310, 1976.
[PubMed: 826494]
[Full Text: https://doi.org/10.1016/s0300-9785(76)80031-2]
</p>
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<p class="mim-text-font">
Darling, T. N., Skarulis, M. C., Steinberg, S. M., Marx, S. J., Spiegel, A. M., Turner, M.
<strong>Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1.</strong>
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[PubMed: 9236523]
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<p class="mim-text-font">
De Jong, P. T. V. M., Bistervels, B., Cosgrove, J., de Grip, G., Leys, A., Goffin, M.
<strong>Medullated nerve fibers: a sign of multiple basal cell nevi (Gorlin&#x27;s) syndrome.</strong>
Arch. Ophthal. 103: 1833-1836, 1985.
[PubMed: 4074174]
[Full Text: https://doi.org/10.1001/archopht.1985.01050120067022]
</p>
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<li>
<p class="mim-text-font">
Evans, D. G. R., Farndon, P. A., Burnell, L. D., Rao Gattamaneni, H., Birch, J. M.
<strong>The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma.</strong>
Brit. J. Cancer 64: 959-961, 1991.
[PubMed: 1931625]
[Full Text: https://doi.org/10.1038/bjc.1991.435]
</p>
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<li>
<p class="mim-text-font">
Evans, D. G. R., Ladusans, E. J., Rimmer, S., Burnell, L. D., Thakker, N., Farndon, P. A.
<strong>Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.</strong>
J. Med. Genet. 30: 460-464, 1993.
[PubMed: 8326488]
[Full Text: https://doi.org/10.1136/jmg.30.6.460]
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<li>
<p class="mim-text-font">
Evans, D. G. R., Sims, D. G., Donnai, D.
<strong>Family implications of neonatal Gorlin&#x27;s syndrome.</strong>
Arch. Dis. Child. 66: 1162-1163, 1991.
[PubMed: 1750770]
[Full Text: https://doi.org/10.1136/adc.66.10_spec_no.1162]
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<li>
<p class="mim-text-font">
Farndon, P. A., Del Mastro, R. G., Evans, D. G. R., Kilpatrick, M. W.
<strong>Location of gene for Gorlin syndrome.</strong>
Lancet 339: 581-582, 1992.
[PubMed: 1347096]
[Full Text: https://doi.org/10.1016/0140-6736(92)90868-4]
</p>
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<li>
<p class="mim-text-font">
Farndon, P. A., Morris, D. J., Hardy, C., McConville, C. M., Weissenbach, J., Kilpatrick, M. W., Reis, A.
<strong>Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3.</strong>
Genomics 23: 486-489, 1994.
[PubMed: 7835901]
[Full Text: https://doi.org/10.1006/geno.1994.1528]
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<li>
<p class="mim-text-font">
Farndon, P. A., Simmons, J.
<strong>Linkage analysis of the naevoid basal cell carcinoma syndrome (NBCCS) and chromosome 1 markers. (Abstract)</strong>
Cytogenet. Cell Genet. 46: 612 only, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Featherstone, T., Taylor, A. M. R., Harnden, D. G.
<strong>Studies on the radiosensitivity of cells from patients with basal cell naevus syndrome.</strong>
Am. J. Hum. Genet. 35: 58-66, 1983.
[PubMed: 6823972]
</p>
</li>
<li>
<p class="mim-text-font">
Fletcher, J. A., Morton, C. C.
<strong>Basal cell nevus syndrome: cytogenetic evidence for a genetic origin in common with familial adenomatous polyposis. (Abstract)</strong>
Am. J. Hum. Genet. 43: A23 only, 1988.
</p>
</li>
<li>
<p class="mim-text-font">
Fujii, K., Miyashita, T., Omata, T., Kobayashi, K., Takanashi, J., Kouchi, K., Yamada, M., Kohno, Y.
<strong>Gorlin syndrome with ulcerative colitis in a Japanese girl.</strong>
Am. J. Med. Genet. 121A: 65-68, 2003.
[PubMed: 12900905]
[Full Text: https://doi.org/10.1002/ajmg.a.20082]
</p>
</li>
<li>
<p class="mim-text-font">
Gailani, M. R., Bale, S. J., Leffell, D. J., DiGiovanna, J. J., Peck, G. L., Poliak, S., Drum, M. A., Pastakia, B., McBride, O. W., Kase, R., Greene, M., Mulvihill, J. J., Bale, A. E.
<strong>Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.</strong>
Cell 69: 111-117, 1992.
[PubMed: 1348213]
[Full Text: https://doi.org/10.1016/0092-8674(92)90122-s]
</p>
</li>
<li>
<p class="mim-text-font">
Gibbs, P. M., Stevens, P. R., Garson, O. M.
<strong>The multiple basal cell nevus syndrome: a cytogenetic study of six cases.</strong>
Cancer Genet. Cytogenet. 20: 369-370, 1986.
[PubMed: 3943073]
[Full Text: https://doi.org/10.1016/0165-4608(86)90097-x]
</p>
</li>
<li>
<p class="mim-text-font">
Goldstein, A. M., Pastakia, B., DiGiovanna, J. J., Poliak, S., Santucci, S., Kase, R., Bale, A. E., Bale, S. J.
<strong>Clinical findings in two African-American families with nevoid basal cell carcinoma syndrome (NBCC).</strong>
Am. J. Med. Genet. 50: 272-281, 1994.
[PubMed: 8042672]
[Full Text: https://doi.org/10.1002/ajmg.1320500311]
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J., Goltz, R. W.
<strong>Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome.</strong>
New Eng. J. Med. 262: 908-912, 1960.
[PubMed: 13851319]
[Full Text: https://doi.org/10.1056/NEJM196005052621803]
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr.
<strong>Syndromes of the Head and Neck. (2nd ed.)</strong>
New York: Blakiston Division, McGraw-Hill (pub.) 1976. Pp. 520-526.
</p>
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<li>
<p class="mim-text-font">
Gorlin, R. J., Sedano, H. O.
<strong>The multiple nevoid basal cell carcinoma syndrome revisited.</strong>
Birth Defects Orig. Art. Ser. VII(8): 140-148, 1971.
[PubMed: 4950929]
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 1982.
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J.
<strong>Nevoid basal-cell carcinoma syndrome.</strong>
Medicine 66: 98-113, 1987.
[PubMed: 3547011]
[Full Text: https://doi.org/10.1097/00005792-198703000-00002]
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J.
<strong>From oral pathology to craniofacial genetics.</strong>
Am. J. Med. Genet. 46: 317-334, 1993.
[PubMed: 8488879]
[Full Text: https://doi.org/10.1002/ajmg.1320460317]
</p>
</li>
<li>
<p class="mim-text-font">
Gundlach, K. K. H., Kiehn, M.
<strong>Multiple basal cell carcinoma and keratocysts--the Gorlin and Goltz syndrome.</strong>
J. Maxillofac. Surg. 7: 299-307, 1979.
[PubMed: 292745]
[Full Text: https://doi.org/10.1016/s0301-0503(79)80055-7]
</p>
</li>
<li>
<p class="mim-text-font">
Hahn, H., Wicking, C., Zaphiropoulos, P. G., Gailani, M. R., Shanley, S., Chidambaram, A., Vorechovsky, I., Holmberg, E., Unden, A. B., Gillies, S., Negus, K., Smyth, I., Pressman, C., Leffell, D. J., Gerrard, B., Goldstein, A. M., Dean, M., Toftgard, R., Chenevix-Trench, G., Wainwright, B., Bale, A. E.
<strong>Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.</strong>
Cell 85: 841-851, 1996.
[PubMed: 8681379]
[Full Text: https://doi.org/10.1016/s0092-8674(00)81268-4]
</p>
</li>
<li>
<p class="mim-text-font">
Hall, J., Johnston, K. A., McPhillips, J. P., Barnes, S. D., Elston, D. M.
<strong>Nevoid basal cell carcinoma syndrome in a black child.</strong>
J. Am. Acad. Derm. 38: 363-365, 1998.
[PubMed: 9486718]
[Full Text: https://doi.org/10.1016/s0190-9622(98)70585-7]
</p>
</li>
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Hammami, H., Faggioni, R., Streiff, E. B., Daiker, B.
<strong>Le syndrome d&#x27;epitheliomatose naevobasocellulaire multiple.</strong>
Ophthalmologica 172: 382-399, 1976.
[PubMed: 958664]
[Full Text: https://doi.org/10.1159/000307738]
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<p class="mim-text-font">
Heimler, A., Friedman, E., Rosenthal, A.
<strong>Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease.</strong>
J. Med. Genet. 15: 288-291, 1978.
[PubMed: 712760]
[Full Text: https://doi.org/10.1136/jmg.15.4.288]
</p>
</li>
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<p class="mim-text-font">
Hermans, E. H., Grosfeld, J. C. M., Spaas, J. A. J.
<strong>The fifth phacomatosis.</strong>
Dermatologica 130: 446-476, 1965.
[PubMed: 5833644]
[Full Text: https://doi.org/10.1159/000254560]
</p>
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<p class="mim-text-font">
Herzberg, J. J., Wiskemann, A.
<strong>Die fuenfte Phakomatose. Basalzellnaevus mit familiaerer Belastung und Medulloblastom.</strong>
Dermatologica 126: 106-123, 1963.
[PubMed: 13954184]
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<p class="mim-text-font">
Holmes, L. B.
<strong>Cabot case.</strong>
New Eng. J. Med. 294: 772-777, 1976.
</p>
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Holubar, K., Matras, H., Smalik, A. V.
<strong>Multiple palmar basal cell epitheliomas in basal cell nevus syndrome.</strong>
Arch. Derm. 101: 679-682, 1970.
[PubMed: 5424485]
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Honavar, S. G., Shields, J. A., Shields, C. L., Eagle, R. C., Jr., Demirci, H., Mahmood, E. Z.
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Howell, J. B., Mehregan, A. H.
<strong>Pursuit of the pits in the nevoid basal cell carcinoma syndrome.</strong>
Arch. Derm. 102: 586-597, 1970.
[PubMed: 5501899]
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Jamieson, S. W., Gaudiani, V. A., Reitz, B. A., Oyer, P. E., Stinson, E. B., Shumway, N. E.
<strong>Operative treatment of unresectable tumor of the left ventricle.</strong>
J. Thorac. Cardiovasc. Surg. 81: 797-799, 1981.
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<strong>Human homolog of patched, a candidate gene for the basal cell nevus syndrome.</strong>
Science 272: 1668-1671, 1996.
[PubMed: 8658145]
[Full Text: https://doi.org/10.1126/science.272.5268.1668]
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Jones, K. L., Smith, D. W., Harvey, M. A. S., Hall, B. D., Quan, L.
<strong>Older paternal age and fresh gene mutation: data on additional disorders.</strong>
J. Pediat. 86: 84-88, 1975.
[PubMed: 1110452]
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Jones, K. L., Wolf, P. L., Jensen, P., Dittrich, H., Benirschke, K., Bloor, C.
<strong>The Gorlin syndrome: a genetically determined disorder associated with cardiac tumor.</strong>
Am. Heart J. 111: 1013-1015, 1986.
[PubMed: 3010689]
[Full Text: https://doi.org/10.1016/0002-8703(86)90664-2]
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Katz, J., Savin, R., Spiro, H. M.
<strong>The basal cell nevus syndrome and inflammatory disease of the bowel.</strong>
Am. J. Med. 44: 483-488, 1968.
[PubMed: 5641308]
[Full Text: https://doi.org/10.1016/0002-9343(68)90119-8]
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Kimonis, V. E., Goldstein, A. M., Pastakia, B., Yang, M. L., Kase, R., DiGiovanna, J. J., Bale, A. E., Bale, S. J.
<strong>Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.</strong>
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[PubMed: 9096761]
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Kimonis, V. E., Singh, K. E., Zhong, R., Pastakia, B., DiGiovanna, J. J., Bale, S. J.
<strong>Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.</strong>
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[Full Text: https://doi.org/10.1038/gim.2012.96]
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Koch, C. A., Chrousos, G. P., Chandra, R., Evangelista, R. S., Gilbert, J. C., Nobuhara, K., Zhuang, Z., Vortmeyer, A. O.
<strong>Two-hit model for tumorigenesis of nevoid basal cell carcinoma (Gorlin) syndrome-associated hepatic mesenchymal tumor. (Letter)</strong>
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[PubMed: 11932998]
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<strong>Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction.</strong>
Am. J. Med. Genet. 69: 309-314, 1997.
[PubMed: 9096762]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970331)69:3&lt;309::aid-ajmg17&gt;3.0.co;2-v]
</p>
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Leonardi, R., Caltabiano, M., Lo Muzio, L., Gorlin, R. J., Bucci, P., Pannone, G., Canfora, M., Sorge, G.
<strong>Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign. (Letter)</strong>
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[PubMed: 12116218]
[Full Text: https://doi.org/10.1002/ajmg.10432]
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Brit. Dent. J. 190: 349-350, 2001.
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<strong>A two-hit model for developmental defects in Gorlin syndrome.</strong>
Nature Genet. 12: 85-87, 1996.
[PubMed: 8528259]
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Levine, D. J., Robertson, D. B., Varma, V. A.
<strong>Familial subconjunctival epithelial cysts associated with the nevoid basal cell carcinoma syndrome. (Letter)</strong>
Arch. Derm. 123: 23-24, 1987.
[PubMed: 3800416]
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Lile, H. A., Rogers, J. F., Gerald, B.
<strong>The basal cell nevus syndrome.</strong>
Am. J. Roentgen. Radium Ther. Nucl. Med. 103: 214-217, 1968.
[PubMed: 5648943]
[Full Text: https://doi.org/10.2214/ajr.103.1.214]
</p>
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<p class="mim-text-font">
Lo Muzio, L., Nocini, P. F., Savoia, A., Consolo, U., Procaccini, M., Zelante, L., Pannone, G., Bucci, P., Dolci, M., Bambini, F., Solda, P., Favia, G.
<strong>Nevoid basal cell carcinoma syndrome: clinical findings in 37 Italian affected individuals.</strong>
Clin. Genet. 55: 34-40, 1999.
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Lorenz, R., Fuhrmann, W.
<strong>Familial basal cell nevus syndrome.</strong>
Hum. Genet. 44: 153-163, 1978.
[PubMed: 730159]
[Full Text: https://doi.org/10.1007/BF00295408]
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McConville, C. M., Taylor, A. M. R., Byrd, P. J., Woolgar, J. A., Hollis, R.
<strong>Basal cell naevus syndrome and N-ras polymorphism. (Abstract)</strong>
Cytogenet. Cell Genet. 46: 660 only, 1987.
</p>
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<p class="mim-text-font">
McKusick, V. A.
<strong>Personal Communication.</strong>
Baltimore, Maryland. 1985.
</p>
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<p class="mim-text-font">
Midro, A. T., Panasiuk, B., Tumer, Z., Stankiewicz, P., Silahtaroglu, A., Lupski, J. R., Zemanova, Z., Stasiewicz-Jarocka, B., Hubert, E., Tarasow, E., Famulski, W., Zadrozna-Tolwinska, B., Wasilewska, E., Kirchhoff, M., Kalscheuer, V., Michalova, K., Tommerup, N.
<strong>Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of nail-patella syndrome.</strong>
Am. J. Med. Genet. 124A: 179-191, 2004.
[PubMed: 14699618]
[Full Text: https://doi.org/10.1002/ajmg.a.20367]
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Nakamura, M., Tokura, Y.
<strong>A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome.</strong>
Europ. J. Derm. 19: 262-263, 2009.
[PubMed: 19213655]
[Full Text: https://doi.org/10.1684/ejd.2009.0627]
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Ottinger, L. W., Vickery, A. L., Jr.
<strong>Case records of the Massachusetts General Hospital (Case 10-1986).</strong>
New Eng. J. Med. 314: 700-706, 1986.
[PubMed: 3951494]
[Full Text: https://doi.org/10.1056/NEJM198603133141108]
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Ozturk, A., Oguz, K. K., Tumer, C., Balci, S.
<strong>Neuroradiological findings in a mother and daughter with Gorlin syndrome. (Letter)</strong>
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[Full Text: https://doi.org/10.1097/00019605-200304000-00016]
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Poissonnet, H., Renard, G., Dufier, J. L., Polliot, L.
<strong>Phacomatose de Gorlin-Goltz.</strong>
Arch. Ophtal. (Paris) 37: 221-236, 1977.
[PubMed: 142475]
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Reis, A., Kuster, W., Linss, G., Gebel, E., Hamm, H., Fuhrmann, W., Wolff, G., Groth, W., Gustafson, G., Kuklik, M., Burger, J., Wegner, R. D., Neitzel, H.
<strong>Localisation of gene for the naevoid basal-cell carcinoma syndrome. (Letter)</strong>
Lancet 339: 617 only, 1992.
[PubMed: 1347116]
[Full Text: https://doi.org/10.1016/0140-6736(92)90903-g]
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Satinoff, M. I., Wells, C.
<strong>Multiple basal cell naevus syndrome in ancient Egypt.</strong>
Med. Hist. 13: 294-297, 1969.
[PubMed: 4893629]
[Full Text: https://doi.org/10.1017/s0025727300014563]
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Sawyer, C. S., Braverman, I. M.
<strong>Basal cell nevus syndrome with inflammatory disease of the bowel.</strong>
Arch. Derm. 99: 131-132, 1969.
[PubMed: 5761802]
[Full Text: https://doi.org/10.1001/archderm.99.1.131]
</p>
</li>
<li>
<p class="mim-text-font">
Schwartz, R. A.
<strong>Basal-cell-nevus syndrome and gastrointestinal polyposis. (Letter)</strong>
New Eng. J. Med. 299: 49 only, 1978.
[PubMed: 661854]
</p>
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Shanley, S., Ratcliffe, J., Hockey, A., Haan, E., Oley, C., Ravine, D., Martin, N., Wicking, C., Chenevix-Trench, G.
<strong>Nevoid basal cell carcinoma syndrome: review of 118 affected individuals.</strong>
Am. J. Med. Genet. 50: 282-290, 1994.
[PubMed: 8042673]
[Full Text: https://doi.org/10.1002/ajmg.1320500312]
</p>
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Shimkets, R., Gailani, M. R., Siu, V. M., Yang-Feng, T., Pressman, C. L., Levanat, S., Goldstein, A., Dean, M., Bale, A. E.
<strong>Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.</strong>
Am. J. Hum. Genet. 59: 417-422, 1996.
[PubMed: 8755929]
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Southwick, G. J., Schwartz, R. A.
<strong>The basal cell nevus syndrome: disasters occurring among a series of 36 patients.</strong>
Cancer 44: 2294-2305, 1979.
[PubMed: 509397]
[Full Text: https://doi.org/10.1002/1097-0142(197912)44:6&lt;2294::aid-cncr2820440644&gt;3.0.co;2-g]
</p>
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<li>
<p class="mim-text-font">
Takahashi, C., Kanazawa, N., Yoshikawa, Y., Yoshikawa, R., Saitoh, Y., Chiyo, H., Tanizawa, T., Hashimoto-Tamaoki, T., Nakano, Y.
<strong>Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.</strong>
J. Hum. Genet. 54: 403-408, 2009.
[PubMed: 19557015]
[Full Text: https://doi.org/10.1038/jhg.2009.55]
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Totten, J. R.
<strong>The multiple nevoid basal cell carcinoma syndrome: report of its occurrence in four generations of a family.</strong>
Cancer 46: 1456-1462, 1980.
[PubMed: 7417945]
[Full Text: https://doi.org/10.1002/1097-0142(19800915)46:6&lt;1456::aid-cncr2820460627&gt;3.0.co;2-l]
</p>
</li>
<li>
<p class="mim-text-font">
Wicking, C., Berkman, J., Wainwright, B., Chenevix-Trench, G.
<strong>Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome.</strong>
Genomics 22: 505-511, 1994.
[PubMed: 8001963]
[Full Text: https://doi.org/10.1006/geno.1994.1423]
</p>
</li>
<li>
<p class="mim-text-font">
Wicking, C., Shanley, S., Smyth, I., Gillies, S., Negus, K., Graham, S., Suthers, G., Haites, N., Edwards, M., Wainwright, B., Chenevix-Trench, G.
<strong>Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.</strong>
Am. J. Hum. Genet. 60: 21-26, 1997.
[PubMed: 8981943]
</p>
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<li>
<p class="mim-text-font">
Wilson, L. C., Ajayi-Obe, E., Bernhard, B., Maas, S. M.
<strong>Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.</strong>
Am. J. Med. Genet. 140A: 2625-2630, 2006.
[PubMed: 16906569]
[Full Text: https://doi.org/10.1002/ajmg.a.31374]
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Marla J. F. O&#x27;Neill - updated : 06/12/2024<br>Carol A. Bocchini - updated : 05/21/2018<br>Marla J. F. O&#x27;Neill - updated : 11/5/2015<br>Ada Hamosh - updated : 4/16/2013<br>Cassandra L. Kniffin - updated : 1/7/2010<br>Marla J. F. O&#x27;Neill - updated : 12/4/2009<br>Matthew B. Gross - updated : 10/9/2008<br>Cassandra L. Kniffin - reorganized : 6/16/2008<br>Cassandra L. Kniffin - updated : 6/5/2008<br>Victor A. McKusick - updated : 2/23/2007<br>Marla J. F. O&#x27;Neill - updated : 6/23/2004<br>Siobhan M. Dolan - updated : 3/5/2004<br>Gary A. Bellus - updated : 2/3/2003<br>Deborah L. Stone - updated : 10/11/2002<br>Victor A. McKusick - updated : 4/29/2002<br>Victor A. McKusick - updated : 1/14/2002<br>Jane Kelly - updated : 9/20/2001<br>Wilson H. Y. Lo - updated : 8/19/1999<br>Victor A. McKusick - updated : 3/15/1999<br>Victor A. McKusick - updated : 5/13/1997<br>Moyra Smith - updated : 1/24/1997<br>Moyra Smith - updated : 10/1/1996<br>Moyra Smith - updated : 7/1/1996<br>Moyra Smith - updated : 6/14/1996
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Victor A. McKusick : 6/4/1986
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