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Entry
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- #168500 - PARIETAL FORAMINA 1; PFM1
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- OMIM
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<p>
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<span class="h4">#168500</span>
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<br />
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<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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<li role="presentation">
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<a href="/clinicalSynopsis/168500"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS168500"> <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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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=PARIETAL FORAMINA" 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.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10796&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1128/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9076" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=168500[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=60015" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060285" 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>
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<div><a href="http://www.informatics.jax.org/disease/168500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060285" 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>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 718099006<br />
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<strong>ORPHA:</strong> 60015<br />
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<strong>DO:</strong> 0060285<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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168500
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PARIETAL FORAMINA 1; PFM1
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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<div>
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<h4>
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<span class="mim-font">
|
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PFM<br />
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PARIETAL FORAMINA, SYMMETRIC<br />
|
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FORAMINA PARIETALIA PERMAGNA; FPP<br />
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CATLIN MARKS<br />
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CRANIUM BIFIDUM OCCULTUM<br />
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CRANIUM BIFIDUM, HEREDITARY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/5/779?start=-3&limit=10&highlight=779">
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5q35.2
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</a>
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</td>
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<td>
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<span class="mim-font">
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Parietal foramina 1
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<td>
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<span class="mim-font">
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<a href="/entry/168500"> 168500 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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MSX2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/123101"> 123101 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/168500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS168500" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/168500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/168500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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<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>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
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- 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- 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 />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Symmetrical, oval parietal bone defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/718099006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">718099006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</a>]</span><br /> -
|
|
Cranium bifidum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48777005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48777005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55999004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55999004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253101008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253101008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q01.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q01.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q01</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014065</a>, <a href="https://bioportal.bioontology.org/search?q=C0265541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265541</a>, <a href="https://bioportal.bioontology.org/search?q=C4551722&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551722</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011815</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002084</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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|
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|
|
</div>
|
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|
|
</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">
|
|
|
|
- Scalp defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4048801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4048801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007385</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
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|
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|
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|
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<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">
|
|
|
|
- Headache <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25064002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25064002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R51.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
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</span>
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</div>
|
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</div>
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</div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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- Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
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Parietal foramina-2 (PFM2, <a href="/entry/609597">609597</a>) are caused by mutations in the ALX4 gene (<a href="/entry/605420">605420</a>)<br /> -
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See also PFM3 on chromosome 4q21-q23 (<a href="/entry/609566">609566</a>)<br />
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Caused by mutation in the msh homeobox 2 gene (MSX2, <a href="/entry/123101#0002">123101.0002</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h5>
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Parietal foramina
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- <a href="/phenotypicSeries/PS168500">PS168500</a>
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- 3 Entries
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</h5>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
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<a href="/geneMap/4/326?start=-3&limit=10&highlight=326"> 4q21-q23 </a>
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<span class="mim-font">
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<a href="/entry/609566"> Parietal foramina 3 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/609566"> 609566 </a>
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<span class="mim-font">
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<a href="/entry/609566"> PFM3 </a>
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<span class="mim-font">
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<a href="/entry/609566"> 609566 </a>
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<span class="mim-font">
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<a href="/geneMap/5/779?start=-3&limit=10&highlight=779"> 5q35.2 </a>
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<span class="mim-font">
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<a href="/entry/168500"> Parietal foramina 1 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/168500"> 168500 </a>
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<span class="mim-font">
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<a href="/entry/123101"> MSX2 </a>
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<span class="mim-font">
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<a href="/entry/123101"> 123101 </a>
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<span class="mim-font">
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<a href="/geneMap/11/329?start=-3&limit=10&highlight=329"> 11p11.2 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/609597"> Parietal foramina 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/609597"> 609597 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/605420"> ALX4 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/605420"> 605420 </a>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because parietal foramina-1 (PFM1) is caused by heterozygous mutation in the MSX2 gene (<a href="/entry/123101">123101</a>) on chromosome 5q35.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<p>Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a narrow bridge of bone. The size of the openings decrease with age and considerable intrafamilial variability is observed (summary by <a href="#12" class="mim-tip-reference" title="Spruijt, L., Verdyck, P., Van Hul, W., Wuyts, W., de Die-Smulders, C. <strong>A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).</strong> Am. J. Med. Genet. 139A: 45-47, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222674</a>] [<a href="https://doi.org/10.1002/ajmg.a.30923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16222674">Spruijt et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222674" 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 Parietal Foramina</em></strong></p><p>
|
|
See also PFM2 (<a href="/entry/609597">609597</a>) and the 11p11.2 deletion syndrome (<a href="/entry/601224">601224</a>), in which parietal foramina are caused by haploinsufficiency of the ALX4 gene (<a href="/entry/605420">605420</a>) on chromosome 11p.</p><p>A third locus for PFM (PFM3; <a href="/entry/609566">609566</a>) has been mapped to chromosome 4q21-q23.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Goldsmith, W. M. <strong>'The Catlin mark': the inheritance of an unusual opening in the parietal bones.</strong> J. Hered. 13: 69-71, 1922."None>Goldsmith (1922)</a> called this condition 'Catlin marks' because he observed 16 instances in 5 generations of the Catlin family. This, like Hartnup disease, Cowden syndrome, Lutheran trait, and Hageman factor, is one of the few examples of hereditary traits named for the family in which it was first observed. <a href="#7" class="mim-tip-reference" title="Lother, K. <strong>Familiaeres Vorkommen von Foramina parietalia permagna.</strong> Arch. Kinderheilk. 160: 156-168, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14418379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14418379</a>]" pmid="14418379">Lother (1959)</a> described 5 cases in 2 generations. Many of the affected persons in Goldsmith's family had circumscribed aplasia of the scalp and the same was true of Lother's family (see <a href="/entry/107600">107600</a>). <a href="#5" class="mim-tip-reference" title="Kite, W. C., Jr. <strong>Seizures associated with the Catlin mark.</strong> Neurology 11: 345-348, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13756473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13756473</a>] [<a href="https://doi.org/10.1212/wnl.11.4.345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13756473">Kite (1961)</a> observed association with seizures. The possibility of confusion with aboriginal trephination was pointed out by <a href="#10" class="mim-tip-reference" title="Powell, B. W. <strong>Aboriginal trephination: case from southern New England?</strong> Science 170: 732-734, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5479628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5479628</a>] [<a href="https://doi.org/10.1126/science.170.3959.732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5479628">Powell (1970)</a>. Clefts of the lip and/or palate were present in cases reported by <a href="#3" class="mim-tip-reference" title="Hollender, L. <strong>Enlarged parietal foramina.</strong> Oral Surg. 23: 447-453, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5227396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5227396</a>] [<a href="https://doi.org/10.1016/0030-4220(67)90536-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5227396">Hollender (1967)</a>, <a href="#4" class="mim-tip-reference" title="Irvine, E. D., Taylor, F. W. <strong>Hereditary and congenital large parietal foramina.</strong> Brit. J. Radiol. 9: 456-462, 1936."None>Irvine and Taylor (1936)</a>, and others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14418379+5227396+5479628+13756473" 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="Little, B. B., Knoll, K. A., Klein, V. R., Heller, K. B. <strong>Hereditary cranium bifidum and symmetric parietal foramina are the same entity.</strong> Am. J. Med. Genet. 35: 453-458, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2185629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2185629</a>] [<a href="https://doi.org/10.1002/ajmg.1320350402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2185629">Little et al. (1990)</a> suggested that hereditary cranium bifidum is the same entity as symmetric parietal foramina. They described a family with serial radiographs that documented the development of parietal foramina in late childhood and adulthood from apparent cranium bifidum and parietal foramina during infancy and early childhood. They concluded that the 2 manifestations are merely a function of age. <a href="#9" class="mim-tip-reference" title="Murphy, J., Gooding, C. A. <strong>Evolution of persistently enlarged parietal foramina.</strong> Radiology 97: 391-392, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5481147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5481147</a>] [<a href="https://doi.org/10.1148/97.2.391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5481147">Murphy and Gooding (1970)</a> demonstrated, in a single patient, progression from apparent cranium bifidum during early childhood to parietal foramina during mid-childhood and adulthood. Normally, components of the calvaria (frontal and parietal bones), which are formed by intramembranous ossification, grow and migrate toward each other to eventually enclose the brain during fetal development. A wide opening between these bones, a fontanel, normally occurs superiorly in term infants, posteriorly and anteriorly, and persists into adulthood only rarely. Cranium bifidum, literally 'cleft skull,' is characterized by the persistence of wide fontanel, bilaterally or in the midline, posteriorly or anteriorly, into childhood. During mid-childhood, these areas usually close, leaving only symmetric openings (foramina) in the frontal or parietal regions. <a href="#13" class="mim-tip-reference" title="Terrafranca, R. J., Zellis, A. <strong>Congenital hereditary cranium bifidum occultum frontalis.</strong> Radiology 61: 60-66, 1953.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13064405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13064405</a>] [<a href="https://doi.org/10.1148/61.1.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13064405">Terrafranca and Zellis (1953)</a> described mother and 2 children with cranium bifidum. In one of the children a medial defect in the frontal bone was accompanied by symmetrical parietal lacunae like those in parietal foramina, as well as cervical (C5-C7) and lumbosacral (L5-S1) spina bifida occulta. The other offspring had an identical frontal defect but less conspicuous parietal foramina and no spina bifida. The mother had a U-shaped frontal defect astride the metopic suture. <a href="#6" class="mim-tip-reference" title="Little, B. B., Knoll, K. A., Klein, V. R., Heller, K. B. <strong>Hereditary cranium bifidum and symmetric parietal foramina are the same entity.</strong> Am. J. Med. Genet. 35: 453-458, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2185629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2185629</a>] [<a href="https://doi.org/10.1002/ajmg.1320350402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2185629">Little et al. (1990)</a> reviewed other families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2185629+5481147+13064405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chrzanowska, K., Kozlowski, K., Kowalska, A. <strong>Syndromic foramina parietalia permagna.</strong> Am. J. Med. Genet. 78: 401-405, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714003</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980806)78:5<401::aid-ajmg1>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9714003">Chrzanowska et al. (1998)</a> reported a patient with a 'new' branchial syndrome that included the features of parietal foramina; <a href="#11" class="mim-tip-reference" title="Rauch, A., Opitz, J. M., Walker, D. <strong>Syndromal foramina parietalia permagna: 'new' or FG syndrome? Comments on the paper by Chrzanowska et al. [1998].</strong> Am. J. Med. Genet. 78: 406-407, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714004</a>]" pmid="9714004">Rauch et al. (1998)</a> considered the patient to represent a case of the FG syndrome (<a href="/entry/305450">305450</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9714004+9714003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Spruijt, L., Verdyck, P., Van Hul, W., Wuyts, W., de Die-Smulders, C. <strong>A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).</strong> Am. J. Med. Genet. 139A: 45-47, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222674</a>] [<a href="https://doi.org/10.1002/ajmg.a.30923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16222674">Spruijt et al. (2005)</a> reported a girl born with a large skull defect, who at 2 months of age had a 5 by 3 cm posterior cranial skull defect. At 10 months of age, the skull defect was much smaller due to a midsagittal bony bridge in the middle of the defect, resulting in bilateral symmetrical foramina of approximately 2 cm in diameter each. The patient's clavicles were normal both on physical and radiographic examination. On CT scan, the father was found to have bilateral skull defects of 1.5 cm in diameter separated by a bony bridge in the same posterior position of the skull as the proband; he had no clavicular defects, and he recalled being told that he had late milk tooth eruption, although he had normal permanent dentition. The grandparents were not available for examination, but neither had a history of a skull defect as a child. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 3 unrelated families with PFM1, <a href="#14" class="mim-tip-reference" title="Wilkie, A. O. M., Tang, Z., Elanko, N., Walsh, S., Twigg, S. R. F., Hurst, J. A., Wall, S. A., Chrzanowska, K. H., Maxson, R. E., Jr. <strong>Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.</strong> Nature Genet. 24: 387-390, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10742103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10742103</a>] [<a href="https://doi.org/10.1038/74224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10742103">Wilkie et al. (2000)</a> identified 3 different heterozygous mutations in the MSX2 gene (<a href="/entry/123101#0002">123101.0002</a>-<a href="/entry/123101#0004">123101.0004</a>). One was a deletion of approximately 206 kb including the entire gene, and the others were intragenic mutations of the DNA-binding homeodomain that predicted disruption of critical intramolecular and DNA contacts. Mouse Msx2 protein with either of the homeodomain mutations exhibited more than 85% reduction in binding to an optimal MSX2 DNA-binding site. These findings contrasted with the previously described MSX2 homeodomain mutation (P148H; <a href="/entry/123101#0001">123101.0001</a>), associated with craniosynostosis, which binds with enhanced affinity to the same target. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10742103" 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 the affected father of a child with parietal foramina, <a href="#12" class="mim-tip-reference" title="Spruijt, L., Verdyck, P., Van Hul, W., Wuyts, W., de Die-Smulders, C. <strong>A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).</strong> Am. J. Med. Genet. 139A: 45-47, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222674</a>] [<a href="https://doi.org/10.1002/ajmg.a.30923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16222674">Spruijt et al. (2005)</a> identified an 8-bp deletion in the MSX2 gene (<a href="/entry/123101#0008">123101.0008</a>). DNA analysis was refused for the proband and her grandparents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222674" 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 5 unrelated families and 6 sporadic cases with parietal foramina, <a href="#8" class="mim-tip-reference" title="Mavrogiannis, L. A., Taylor, I. B., Davies, S. J., Ramos, F. J., Olivares, J. L., Wilkie, A. O. M. <strong>Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.</strong> Europ. J. Hum. Genet. 14: 151-158, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16319823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16319823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16319823[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16319823">Mavrogiannis et al. (2006)</a> identified 2 different heterozygous mutations in the MSX2 gene in 2 families and 2 different heterozygous mutations in the ALX4 gene (<a href="/entry/605420#0006">605420.0006</a>; <a href="/entry/605420#0007">605420.0007</a>) in 1 family and 1 sporadic case, respectively. Combined with previous reports, mutations in the ALX4 or MSX2 genes had been identified in 11 of 13 familial PFM cases and 1 of 6 sporadic PFM cases. There were no significant genotype/phenotype correlations. <a href="#8" class="mim-tip-reference" title="Mavrogiannis, L. A., Taylor, I. B., Davies, S. J., Ramos, F. J., Olivares, J. L., Wilkie, A. O. M. <strong>Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.</strong> Europ. J. Hum. Genet. 14: 151-158, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16319823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16319823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16319823[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16319823">Mavrogiannis et al. (2006)</a> concluded that PFM caused by ALX4 and MSX2 have a similar prevalence and are clinically indistinguishable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16319823" 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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Chrzanowska, K., Kozlowski, K., Kowalska, A.
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<strong>Syndromic foramina parietalia permagna.</strong>
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Am. J. Med. Genet. 78: 401-405, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9714003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19980806)78:5<401::aid-ajmg1>3.0.co;2-o" target="_blank">Full Text</a>]
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Goldsmith, W. M.
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<strong>'The Catlin mark': the inheritance of an unusual opening in the parietal bones.</strong>
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J. Hered. 13: 69-71, 1922.
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Hollender, L.
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<strong>Enlarged parietal foramina.</strong>
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Oral Surg. 23: 447-453, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5227396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5227396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5227396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0030-4220(67)90536-1" target="_blank">Full Text</a>]
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Irvine, E. D., Taylor, F. W.
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<strong>Hereditary and congenital large parietal foramina.</strong>
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Brit. J. Radiol. 9: 456-462, 1936.
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Kite, W. C., Jr.
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<strong>Seizures associated with the Catlin mark.</strong>
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Neurology 11: 345-348, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13756473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13756473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13756473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.11.4.345" target="_blank">Full Text</a>]
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Little, B. B., Knoll, K. A., Klein, V. R., Heller, K. B.
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<strong>Hereditary cranium bifidum and symmetric parietal foramina are the same entity.</strong>
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Am. J. Med. Genet. 35: 453-458, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2185629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2185629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2185629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320350402" target="_blank">Full Text</a>]
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Lother, K.
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Arch. Kinderheilk. 160: 156-168, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14418379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14418379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14418379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mavrogiannis, L. A., Taylor, I. B., Davies, S. J., Ramos, F. J., Olivares, J. L., Wilkie, A. O. M.
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<strong>Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.</strong>
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Europ. J. Hum. Genet. 14: 151-158, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16319823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16319823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16319823[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16319823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201526" target="_blank">Full Text</a>]
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Murphy, J., Gooding, C. A.
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<strong>Evolution of persistently enlarged parietal foramina.</strong>
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Radiology 97: 391-392, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5481147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5481147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5481147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1148/97.2.391" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Powell1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Powell, B. W.
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<strong>Aboriginal trephination: case from southern New England?</strong>
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Science 170: 732-734, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5479628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5479628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5479628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.170.3959.732" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Rauch1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rauch, A., Opitz, J. M., Walker, D.
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<strong>Syndromal foramina parietalia permagna: 'new' or FG syndrome? Comments on the paper by Chrzanowska et al. [1998].</strong>
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Am. J. Med. Genet. 78: 406-407, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9714004" 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="12" class="mim-anchor"></a>
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<a id="Spruijt2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spruijt, L., Verdyck, P., Van Hul, W., Wuyts, W., de Die-Smulders, C.
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<strong>A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).</strong>
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Am. J. Med. Genet. 139A: 45-47, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30923" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Terrafranca1953" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Terrafranca, R. J., Zellis, A.
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<strong>Congenital hereditary cranium bifidum occultum frontalis.</strong>
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Radiology 61: 60-66, 1953.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13064405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13064405</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13064405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1148/61.1.60" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Wilkie2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilkie, A. O. M., Tang, Z., Elanko, N., Walsh, S., Twigg, S. R. F., Hurst, J. A., Wall, S. A., Chrzanowska, K. H., Maxson, R. E., Jr.
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<strong>Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.</strong>
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Nature Genet. 24: 387-390, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10742103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10742103</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10742103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/74224" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/17/2006
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/17/2005<br>Michael J. Wright - updated : 2/9/2001<br>Victor A. McKusick - updated : 1/2/2001<br>Victor A. McKusick - updated : 11/21/2000<br>Ada Hamosh - updated : 3/30/2000<br>Ada Hamosh - updated : 3/29/2000<br>Ada Hamosh - updated : 11/3/1998
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/23/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/23/2016<br>wwang : 6/10/2011<br>wwang : 6/10/2011<br>wwang : 2/24/2006<br>ckniffin : 2/17/2006<br>wwang : 11/22/2005<br>terry : 11/17/2005<br>carol : 9/22/2005<br>ckniffin : 9/22/2005<br>wwang : 9/19/2005<br>ckniffin : 9/1/2005<br>alopez : 2/9/2001<br>mgross : 1/2/2001<br>mgross : 1/2/2001<br>joanna : 11/29/2000<br>carol : 11/27/2000<br>terry : 11/21/2000<br>carol : 7/10/2000<br>alopez : 3/30/2000<br>carol : 3/30/2000<br>carol : 3/30/2000<br>carol : 3/30/2000<br>terry : 3/29/2000<br>alopez : 8/16/1999<br>terry : 5/5/1999<br>alopez : 11/3/1998<br>carol : 7/1/1998<br>terry : 5/2/1996<br>mark : 4/25/1996<br>mark : 4/25/1996<br>terry : 4/22/1996<br>mark : 1/21/1996<br>terry : 11/2/1995<br>mimadm : 1/14/1995<br>carol : 3/24/1993<br>supermim : 3/16/1992<br>carol : 6/1/1990<br>supermim : 3/20/1990
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 168500
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PARIETAL FORAMINA 1; PFM1
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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PFM<br />
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PARIETAL FORAMINA, SYMMETRIC<br />
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FORAMINA PARIETALIA PERMAGNA; FPP<br />
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CATLIN MARKS<br />
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CRANIUM BIFIDUM OCCULTUM<br />
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CRANIUM BIFIDUM, HEREDITARY
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</span>
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</h4>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 718099006;
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<strong>ORPHA:</strong> 60015;
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<strong>DO:</strong> 0060285;
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<td>
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<span class="mim-font">
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5q35.2
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</span>
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<td>
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<span class="mim-font">
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Parietal foramina 1
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</td>
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<td>
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<span class="mim-font">
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168500
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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MSX2
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<td>
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<span class="mim-font">
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123101
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because parietal foramina-1 (PFM1) is caused by heterozygous mutation in the MSX2 gene (123101) on chromosome 5q35.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a narrow bridge of bone. The size of the openings decrease with age and considerable intrafamilial variability is observed (summary by Spruijt et al., 2005). </p><p><strong><em>Genetic Heterogeneity of Parietal Foramina</em></strong></p><p>
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See also PFM2 (609597) and the 11p11.2 deletion syndrome (601224), in which parietal foramina are caused by haploinsufficiency of the ALX4 gene (605420) on chromosome 11p.</p><p>A third locus for PFM (PFM3; 609566) has been mapped to chromosome 4q21-q23.</p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Goldsmith (1922) called this condition 'Catlin marks' because he observed 16 instances in 5 generations of the Catlin family. This, like Hartnup disease, Cowden syndrome, Lutheran trait, and Hageman factor, is one of the few examples of hereditary traits named for the family in which it was first observed. Lother (1959) described 5 cases in 2 generations. Many of the affected persons in Goldsmith's family had circumscribed aplasia of the scalp and the same was true of Lother's family (see 107600). Kite (1961) observed association with seizures. The possibility of confusion with aboriginal trephination was pointed out by Powell (1970). Clefts of the lip and/or palate were present in cases reported by Hollender (1967), Irvine and Taylor (1936), and others. </p><p>Little et al. (1990) suggested that hereditary cranium bifidum is the same entity as symmetric parietal foramina. They described a family with serial radiographs that documented the development of parietal foramina in late childhood and adulthood from apparent cranium bifidum and parietal foramina during infancy and early childhood. They concluded that the 2 manifestations are merely a function of age. Murphy and Gooding (1970) demonstrated, in a single patient, progression from apparent cranium bifidum during early childhood to parietal foramina during mid-childhood and adulthood. Normally, components of the calvaria (frontal and parietal bones), which are formed by intramembranous ossification, grow and migrate toward each other to eventually enclose the brain during fetal development. A wide opening between these bones, a fontanel, normally occurs superiorly in term infants, posteriorly and anteriorly, and persists into adulthood only rarely. Cranium bifidum, literally 'cleft skull,' is characterized by the persistence of wide fontanel, bilaterally or in the midline, posteriorly or anteriorly, into childhood. During mid-childhood, these areas usually close, leaving only symmetric openings (foramina) in the frontal or parietal regions. Terrafranca and Zellis (1953) described mother and 2 children with cranium bifidum. In one of the children a medial defect in the frontal bone was accompanied by symmetrical parietal lacunae like those in parietal foramina, as well as cervical (C5-C7) and lumbosacral (L5-S1) spina bifida occulta. The other offspring had an identical frontal defect but less conspicuous parietal foramina and no spina bifida. The mother had a U-shaped frontal defect astride the metopic suture. Little et al. (1990) reviewed other families. </p><p>Chrzanowska et al. (1998) reported a patient with a 'new' branchial syndrome that included the features of parietal foramina; Rauch et al. (1998) considered the patient to represent a case of the FG syndrome (305450). </p><p>Spruijt et al. (2005) reported a girl born with a large skull defect, who at 2 months of age had a 5 by 3 cm posterior cranial skull defect. At 10 months of age, the skull defect was much smaller due to a midsagittal bony bridge in the middle of the defect, resulting in bilateral symmetrical foramina of approximately 2 cm in diameter each. The patient's clavicles were normal both on physical and radiographic examination. On CT scan, the father was found to have bilateral skull defects of 1.5 cm in diameter separated by a bony bridge in the same posterior position of the skull as the proband; he had no clavicular defects, and he recalled being told that he had late milk tooth eruption, although he had normal permanent dentition. The grandparents were not available for examination, but neither had a history of a skull defect as a child. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 3 unrelated families with PFM1, Wilkie et al. (2000) identified 3 different heterozygous mutations in the MSX2 gene (123101.0002-123101.0004). One was a deletion of approximately 206 kb including the entire gene, and the others were intragenic mutations of the DNA-binding homeodomain that predicted disruption of critical intramolecular and DNA contacts. Mouse Msx2 protein with either of the homeodomain mutations exhibited more than 85% reduction in binding to an optimal MSX2 DNA-binding site. These findings contrasted with the previously described MSX2 homeodomain mutation (P148H; 123101.0001), associated with craniosynostosis, which binds with enhanced affinity to the same target. </p><p>In the affected father of a child with parietal foramina, Spruijt et al. (2005) identified an 8-bp deletion in the MSX2 gene (123101.0008). DNA analysis was refused for the proband and her grandparents. </p><p>Among 5 unrelated families and 6 sporadic cases with parietal foramina, Mavrogiannis et al. (2006) identified 2 different heterozygous mutations in the MSX2 gene in 2 families and 2 different heterozygous mutations in the ALX4 gene (605420.0006; 605420.0007) in 1 family and 1 sporadic case, respectively. Combined with previous reports, mutations in the ALX4 or MSX2 genes had been identified in 11 of 13 familial PFM cases and 1 of 6 sporadic PFM cases. There were no significant genotype/phenotype correlations. Mavrogiannis et al. (2006) concluded that PFM caused by ALX4 and MSX2 have a similar prevalence and are clinically indistinguishable. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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Little, B. B., Knoll, K. A., Klein, V. R., Heller, K. B.
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<strong>Aboriginal trephination: case from southern New England?</strong>
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Spruijt, L., Verdyck, P., Van Hul, W., Wuyts, W., de Die-Smulders, C.
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<strong>Congenital hereditary cranium bifidum occultum frontalis.</strong>
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Wilkie, A. O. M., Tang, Z., Elanko, N., Walsh, S., Twigg, S. R. F., Hurst, J. A., Wall, S. A., Chrzanowska, K. H., Maxson, R. E., Jr.
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