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Entry
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- #218600 - BALLER-GEROLD SYNDROME; BGS
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- OMIM
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<p>
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<span class="h4">#218600</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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<li role="presentation">
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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/218600"><strong>Clinical Synopsis</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="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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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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</a>
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</h4>
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</div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=BALLER-GEROLD SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1469&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/NBK1204/" 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/1995" 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://medlineplus.gov/genetics/condition/baller-gerold-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=218600[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=1225" 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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/b5591b02-4a20-403c-8f14-7e97f9ca8d00/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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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:0050654" 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/218600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001224/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<div>
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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> 77608001<br />
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<strong>ORPHA:</strong> 1225<br />
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<strong>DO:</strong> 0050654<br />
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">ICD+</a>
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<div>
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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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218600
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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BALLER-GEROLD SYNDROME; BGS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CRANIOSYNOSTOSIS WITH RADIAL DEFECTS<br />
|
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CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME
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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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<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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<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/8/650?start=-3&limit=10&highlight=650">
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8q24.3
|
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</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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Baller-Gerold syndrome
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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/218600"> 218600 </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 recessive">AR</abbr>
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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="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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<td>
|
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<span class="mim-font">
|
|
RECQL4
|
|
</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/603780"> 603780 </a>
|
|
</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>
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<div>
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|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/218600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
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|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/218600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/218600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Turribrachycephaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857484</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000244</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000244</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flattened forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004425</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004425</a>]</span><br /> -
|
|
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low-set, posteriorly rotated ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857486</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000368</a>]</span><br /> -
|
|
Conductive hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44057004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44057004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018777</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
|
|
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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</span>
|
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</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microstomia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14582003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14582003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=10b0833efede21449fd514c4267cdf57" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Mouth,Narrow-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=10b0833efede21449fd514c4267cdf57" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
High palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Palate,High-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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</span>
|
|
</div>
|
|
</div>
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</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Congenital heart defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13213009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13213009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Perineal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/284077005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">284077005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0561921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0561921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004871" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004871</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004871" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004871</a>]</span><br /> -
|
|
Anteriorly placed anus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838705</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span><br /> -
|
|
Imperforate anus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Rectovaginal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65619001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65619001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N82.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N82.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034895</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Renal anomalies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44513007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44513007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q63.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000077</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000077</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Craniosynostosis (coronal, metopic, lambdoidal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857487</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57219006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57219006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vertebral anomalies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61367005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61367005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834129&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834129</a>, <a href="https://bioportal.bioontology.org/search?q=C0265343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265343</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003468" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003468</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003468" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003468</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent or hypoplastic radii <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857488</a>]</span><br /> -
|
|
Short, curved ulna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857489</a>]</span><br /> -
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Fused carpal bones <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/92843003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">92843003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431863&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431863</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009702" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009702</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009702" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009702</a>]</span><br /> -
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Absent carpals, metacarpals, and phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857490</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the DNA helicase, RecQ-like, type 4 gene (RECQL4, <a href="/entry/603780#0012">603780.0012</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Baller-Gerold syndrome (BGS) is caused by homozygous or compound heterozygous mutation in the RECQL4 gene (<a href="/entry/603780">603780</a>) on chromosome 8p24.</p><p>Rothmund-Thomson syndrome type 2 (<a href="/entry/268400">268400</a>), which shows phenotypic overlap with BGS, is also caused by biallelic mutation in the RECQL4 gene.</p>
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<strong>Description</strong>
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<p>The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia (<a href="#9" class="mim-tip-reference" title="Galea, P., Tolmie, J. L. <strong>Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).</strong> J. Med. Genet. 27: 784-787, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2074565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2074565</a>] [<a href="https://doi.org/10.1136/jmg.27.12.784" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2074565">Galea and Tolmie, 1990</a>). Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2074565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Baller, F. <strong>Radiusaplasie und Inzucht.</strong> Z. Menschl. Vererb. Konstitutionsl. 29: 782-790, 1950."None>Baller (1950)</a> described a female with oxycephaly and absent radius. The parents were third cousins. <a href="#10" class="mim-tip-reference" title="Gerold, M. <strong>Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen. (Healing of a fracture in an unusual case of congenital anomaly of the upper extremities).</strong> Zbl. Chir. 84: 831-834, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13669699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13669699</a>]" pmid="13669699">Gerold (1959)</a> described a brother and sister, aged 16 years and 2 days, with tower skull, radial aplasia, and slight ulnar hypoplasia. <a href="#17" class="mim-tip-reference" title="Pelias, M. Z., Superneau, D. W., Thurmon, T. F. <strong>A sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome.</strong> Am. J. Med. Genet. 10: 133-139, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7315870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7315870</a>] [<a href="https://doi.org/10.1002/ajmg.1320100206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7315870">Pelias et al. (1981)</a> observed parental consanguinity. Their patient also had bilateral conductive hearing loss; auditory deficit was not observed in earlier reported cases. The radial deficiency is not necessarily symmetric. In all cases the ulna is short and curved. Malformation or absence of some carpals and metacarpals, and absent or hypoplastic thumbs have been observed in some cases. The patients are almost always short. Skeletal anomalies of the spine and pelvis are frequent. Anteriorly placed anus and imperforate anus with either perineal fistula or rectovaginal fistula have been observed. Anomalies of the heart and urogenital system and mental and/or motor retardation have been noted in some patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13669699+7315870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Boudreaux, J. M., Colon, M. A., Lorusso, G. D., Parro, E. A., Pelias, M. Z. <strong>Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia.</strong> Am. J. Med. Genet. 37: 447-450, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260585</a>] [<a href="https://doi.org/10.1002/ajmg.1320370403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2260585">Boudreaux et al. (1990)</a> reported the alleged eleventh case of Baller-Gerold syndrome; probable parental consanguinity supported autosomal recessive inheritance. <a href="#9" class="mim-tip-reference" title="Galea, P., Tolmie, J. L. <strong>Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).</strong> J. Med. Genet. 27: 784-787, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2074565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2074565</a>] [<a href="https://doi.org/10.1136/jmg.27.12.784" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2074565">Galea and Tolmie (1990)</a> described a sporadic case. They pointed out that the published cases, still few in number, can be divided into those with craniosynostosis and radial defects alone and those with additional malformations. Their case was of the former type. They stated: 'Although the Baller-Gerold syndrome is allocated an asterisk in the autosomal recessive section of McKusick's catalogue, we are at present uncomfortable with the prospect of reassuring our proband that his own children have a negligible risk of being affected.' Because of possible genetic heterogeneity, their caution may be appropriate. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2074565+2260585" 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>The patient reported by <a href="#5" class="mim-tip-reference" title="Dallapiccola, B., Zelante, L., Mingarelli, R., Pellegrino, M., Bertozzi, V. <strong>Baller-Gerold syndrome: case report and clinical and radiological review.</strong> Am. J. Med. Genet. 42: 365-368, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1536180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1536180</a>] [<a href="https://doi.org/10.1002/ajmg.1320420323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1536180">Dallapiccola et al. (1992)</a> had, in addition to the cranial and radial features, imperforate anus, rectovaginal fistula, prenatal growth deficiency, and mental retardation. <a href="#24" class="mim-tip-reference" title="Van Maldergem, L., Verloes, A., Lejeune, L., Gillerot, Y. <strong>The Baller-Gerold syndrome.</strong> J. Med. Genet. 29: 266-268, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583650</a>] [<a href="https://doi.org/10.1136/jmg.29.4.266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1583650">Van Maldergem et al. (1992)</a> described a newborn who lived only 2 hours and had extensive agenesis of the frontal and parietal bones resulting in a very large fontanel in addition to coronal bilateral craniosynostosis. Anterior placement of the anus and pancreatic islet cell hypertrophy were also noted. <a href="#15" class="mim-tip-reference" title="Lin, A. E., McPherson, E., Nwokoro, N. A., Clemens, M., Losken, H. W., Mulvihill, J. J. <strong>Further delineation of the Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 45: 519-524, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465861</a>] [<a href="https://doi.org/10.1002/ajmg.1320450423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8465861">Lin et al. (1993)</a> described 3 new cases, bringing the total number of reported cases to 20. Two of their patients were sibs. <a href="#19" class="mim-tip-reference" title="Ramos Fuentes, F. J., Nicholson, L., Scott, C. I., Jr. <strong>Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.</strong> Europ. J. Pediat. 153: 483-487, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7957363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7957363</a>] [<a href="https://doi.org/10.1007/BF01957001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7957363">Ramos Fuentes et al. (1994)</a> described unusually mild involvement in a 3-year-old boy with trigonocephaly and bilateral absent radii and thumbs. His growth and psychomotor development had been normal. No visceral anomalies were found. <a href="#19" class="mim-tip-reference" title="Ramos Fuentes, F. J., Nicholson, L., Scott, C. I., Jr. <strong>Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.</strong> Europ. J. Pediat. 153: 483-487, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7957363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7957363</a>] [<a href="https://doi.org/10.1007/BF01957001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7957363">Ramos Fuentes et al. (1994)</a> found reports of 21 cases in the 'Western literature.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7957363+1536180+1583650+8465861" 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 2 families studied by <a href="#23" class="mim-tip-reference" title="Van Maldergem, L., Siitonen, H. A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E. W., Cai, J., Wang, L. L., Plon, S. E., Fourneau, C., Kestila, M., Gillerot, Y., Megarbane, A., Verloes, A. <strong>Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.</strong> J. Med. Genet. 43: 148-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15964893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15964893</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15964893[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/10.1136/jmg.2005.031781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15964893">Van Maldergem et al. (2006)</a> with mutations in the RECQL4 gene, affected individuals had craniosynostosis, radial defects, and growth retardation, and 2 patients developed poikiloderma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15964893" 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>Phenotypic Overlap</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M. <strong>The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.</strong> J. Med. Genet. 27: 371-375, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2359099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2359099</a>] [<a href="https://doi.org/10.1136/jmg.27.6.371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2359099">Huson et al. (1990)</a> described a patient with craniostenosis and radial aplasia which led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis, and similarity of the facial phenotype to that of Roberts syndrome (<a href="/entry/268300">268300</a>) was noted. Chromosome analysis showed the premature centromere separation characteristic of that condition. The case raised the question as to whether the Baller-Gerold syndrome should be considered a distinct entity. <a href="#13" class="mim-tip-reference" title="Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M. <strong>The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.</strong> J. Med. Genet. 27: 371-375, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2359099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2359099</a>] [<a href="https://doi.org/10.1136/jmg.27.6.371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2359099">Huson et al. (1990)</a> suggested that cases diagnosed as having Baller-Gerold syndrome should have cytogenetic analysis and, conversely, that known Roberts syndrome survivors should be reviewed for signs of craniostenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2359099" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Lewis, M. E. S., Rosenbaum, P. L., Paes, B. A. <strong>Baller-Gerold syndrome associated with congenital hydrocephalus.</strong> Am. J. Med. Genet. 40: 307-310, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951434</a>] [<a href="https://doi.org/10.1002/ajmg.1320400312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1951434">Lewis et al. (1991)</a> observed association with congenital hydrocephalus which was detected along with the other abnormalities by ultrasound at 26 weeks' gestation. However, the diagnosis of Baller-Gerold syndrome was later changed by <a href="#7" class="mim-tip-reference" title="Farrell, S. A., Paes, B. A., Lewis, M. E. S. <strong>Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (Letter)</strong> Am. J. Med. Genet. 50: 98-99, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8160763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8160763</a>] [<a href="https://doi.org/10.1002/ajmg.1320500123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8160763">Farrell et al. (1994)</a>: when the patient was reviewed at age 3 years, chronic thrombocytopenia was noted. This new finding, combined with the pattern of anomalies (bilateral radial ray defects, right renal dysplasia, ventricular septal defect, anteriorly placed anus, and persistent cloaca), led to consideration of the diagnosis of Fanconi anemia (<a href="/entry/227650">227650</a>). Diepoxybutane (DEB) chromosome testing in 2 laboratories showed an elevated rate of mean chromosome breaks per cell consistent with that diagnosis. <a href="#7" class="mim-tip-reference" title="Farrell, S. A., Paes, B. A., Lewis, M. E. S. <strong>Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (Letter)</strong> Am. J. Med. Genet. 50: 98-99, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8160763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8160763</a>] [<a href="https://doi.org/10.1002/ajmg.1320500123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8160763">Farrell et al. (1994)</a> pointed out that VACTERL with hydrocephalus (<a href="/entry/276950">276950</a>) has also been shown to represent Fanconi anemia on the basis of chromosome breakage studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1951434+8160763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Rossbach, H.-C., Sutcliffe, M. J., Haag, M. M., Grana, N. H., Rossi, A. R., Barbosa, J. L. <strong>Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 61: 65-67, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741921</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.0.CO;2-U" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8741921">Rossbach et al. (1996)</a> described 2 brothers with presumed Baller-Gerold syndrome, one of whom had previously been diagnosed with the association of vertebral, cardiac, renal and limb anomalies, anal atresia, and tracheoesophageal fistula (VACTERL) with hydrocephalus, who were evaluated for chromosome breakage because of severe thrombocytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to controls. Clinical manifestations and chromosome breakage consistent with Fanconi anemia had been reported earlier in patients with a prior diagnosis of Baller-Gerold syndrome by <a href="#7" class="mim-tip-reference" title="Farrell, S. A., Paes, B. A., Lewis, M. E. S. <strong>Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (Letter)</strong> Am. J. Med. Genet. 50: 98-99, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8160763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8160763</a>] [<a href="https://doi.org/10.1002/ajmg.1320500123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8160763">Farrell et al. (1994)</a> and in 3 patients with the VACTERL association with hydrocephalus by <a href="#22" class="mim-tip-reference" title="Toriello, H. V., Pearson, D. V. M., Sommer, A. <strong>Verification of the existence of a severe form of Fanconi pancytopenia.</strong> Proc. Greenwood Genet. Center. 11: 142, 1991."None>Toriello et al. (1991)</a> and <a href="#18" class="mim-tip-reference" title="Porteous, M. E. M., Cross, I., Burn, J. <strong>VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?</strong> Am. J. Med. Genet. 43: 1032-1034, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415330</a>] [<a href="https://doi.org/10.1002/ajmg.1320430624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1415330">Porteous et al. (1992)</a>. The authors commented that the observations underscore the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variants of the same disorder. <a href="#4" class="mim-tip-reference" title="Cohen, M. M., Jr., Toriello, H. V. <strong>Is there a Baller-Gerold syndrome? (Editorial)</strong> Am. J. Med. Genet. 61: 63-64, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741920</a>] [<a href="https://doi.org/10.1002/ajmg.1320610103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8741920">Cohen and Toriello (1996)</a> likewise raised the question 'Is there a Baller-Gerold syndrome?' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8741921+8160763+1415330+8741920" 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>As outlined earlier, phenotypic overlap of Baller-Gerold syndrome with several other syndromes required narrowing the definition of Baller-Gerold syndrome. The finding of premature centromere separation pointed to Roberts syndrome rather than BGS as indicated by <a href="#13" class="mim-tip-reference" title="Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M. <strong>The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.</strong> J. Med. Genet. 27: 371-375, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2359099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2359099</a>] [<a href="https://doi.org/10.1136/jmg.27.6.371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2359099">Huson et al. (1990)</a>. Other cases of presumed Baller-Gerold syndrome were rediagnosed as Fanconi pancytopenia or VACTERL association (<a href="#20" class="mim-tip-reference" title="Rossbach, H.-C., Sutcliffe, M. J., Haag, M. M., Grana, N. H., Rossi, A. R., Barbosa, J. L. <strong>Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 61: 65-67, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741921</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.0.CO;2-U" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8741921">Rossbach et al., 1996</a>). Such reports led to a narrowed redefinition of BGS based on the exclusion of cytogenetic and hematopoietic abnormalities and the absence of additional malformations in patients with craniosynostosis and preaxial upper limb abnormalities. <a href="#12" class="mim-tip-reference" title="Gripp, K. W., Stolle, C. A., Celle, L., McDonald-McGinn, D. M., Whitaker, L. A., Zackai, E. H. <strong>TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 82: 170-176, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934984</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9934984">Gripp et al. (1999)</a> reported on a patient with unilateral radial aplasia and bicoronal synostosis without additional malformations and without chromosome breakage, who fitted this narrow definition of Baller-Gerold syndrome. They identified a novel mutation in the TWIST gene (<a href="/entry/601622#0008">601622.0008</a>), which is characteristic of Saethre-Chotzen syndrome. Because the TWIST mutation pointed to the diagnosis of SCS, the whole family was investigated. Facial asymmetry, prominent nose, high palate, and hallux valgus observed in the father and older sister were consistent with mild presentation of SCS and these 2 individuals were found also to carry the TWIST mutation. This experience further points to the question raised by <a href="#4" class="mim-tip-reference" title="Cohen, M. M., Jr., Toriello, H. V. <strong>Is there a Baller-Gerold syndrome? (Editorial)</strong> Am. J. Med. Genet. 61: 63-64, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741920</a>] [<a href="https://doi.org/10.1002/ajmg.1320610103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8741920">Cohen and Toriello (1996)</a> of whether there is a Baller-Gerold syndrome. The patient of <a href="#12" class="mim-tip-reference" title="Gripp, K. W., Stolle, C. A., Celle, L., McDonald-McGinn, D. M., Whitaker, L. A., Zackai, E. H. <strong>TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 82: 170-176, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934984</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9934984">Gripp et al. (1999)</a> illustrated the practical significance of the distinction. BGS has been thought to be an autosomal recessive disorder; the Saethre-Chotzen syndrome is an autosomal dominant disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8741921+9934984+8741920+2359099" 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="#21" class="mim-tip-reference" title="Seto, M. L., Lee, S. J., Sze, R. W., Cunningham, M. L. <strong>Another TWIST on Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 104: 323-330, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11754069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11754069</a>] [<a href="https://doi.org/10.1002/ajmg.10065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11754069">Seto et al. (2001)</a> reported a patient with characteristic features of Baller-Gerold syndrome, including metopic, sagittal, and coronal synostosis and bilateral radial ray hypoplasia, with a novel mutation in the TWIST gene (<a href="/entry/601622#0010">601622.0010</a>). Other features included small, round ears with prominent crus helices and cervical anomalies. The father, who also carried the mutation, had very mild features of Saethre-Chotzen syndrome. Since mutations in the TWIST gene are typically associated with SCS, the authors suggested that some cases of Baller-Gerold syndrome should be reclassified as a heterogeneous form of Saethre-Chotzen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11754069" 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="de Oliveira, R., Lajeunie, E., Arnaud, E., Greensmith, A., Renier, D. <strong>Baller-Gerold syndrome after fetal exposure to sodium valproate. (Letter)</strong> Am. J. Med. Genet. 134A: 113 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15732083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15732083</a>] [<a href="https://doi.org/10.1002/ajmg.a.30385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15732083">De Oliveira et al. (2005)</a> reported 3 patients with a history of fetal exposure to sodium valproate who were born with metopic synostosis and upper limb malformations similar to Baller-Gerold syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15732083" 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>The transmission pattern of BGS in the families reported by <a href="#23" class="mim-tip-reference" title="Van Maldergem, L., Siitonen, H. A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E. W., Cai, J., Wang, L. L., Plon, S. E., Fourneau, C., Kestila, M., Gillerot, Y., Megarbane, A., Verloes, A. <strong>Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.</strong> J. Med. Genet. 43: 148-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15964893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15964893</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15964893[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/10.1136/jmg.2005.031781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15964893">Van Maldergem et al. (2006)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15964893" 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>Baller-Gerold syndrome is caused by mutations in the RECQL4 gene (<a href="/entry/603780">603780</a>) and therefore maps to chromosome 8q24.3 (<a href="#23" class="mim-tip-reference" title="Van Maldergem, L., Siitonen, H. A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E. W., Cai, J., Wang, L. L., Plon, S. E., Fourneau, C., Kestila, M., Gillerot, Y., Megarbane, A., Verloes, A. <strong>Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.</strong> J. Med. Genet. 43: 148-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15964893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15964893</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15964893[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/10.1136/jmg.2005.031781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15964893">Van Maldergem et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15964893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#23" class="mim-tip-reference" title="Van Maldergem, L., Siitonen, H. A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E. W., Cai, J., Wang, L. L., Plon, S. E., Fourneau, C., Kestila, M., Gillerot, Y., Megarbane, A., Verloes, A. <strong>Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.</strong> J. Med. Genet. 43: 148-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15964893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15964893</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15964893[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/10.1136/jmg.2005.031781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15964893">Van Maldergem et al. (2006)</a> pointed out the clinical overlap between BGS and Rothmund-Thomson syndrome (RTS; <a href="/entry/268400">268400</a>) and RAPADILINO syndrome (<a href="/entry/266280">266280</a>). Because patients with RAPADILINO syndrome and a subset of patients with RTS have mutations in the RECQL4 gene (<a href="/entry/603780">603780</a>), they reassessed 2 previously reported BGS families and found causal mutations in RECQL4 in both. In the first family, reported by <a href="#24" class="mim-tip-reference" title="Van Maldergem, L., Verloes, A., Lejeune, L., Gillerot, Y. <strong>The Baller-Gerold syndrome.</strong> J. Med. Genet. 29: 266-268, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583650</a>] [<a href="https://doi.org/10.1136/jmg.29.4.266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1583650">Van Maldergem et al. (1992)</a>, 4 affected offspring had craniosynostosis and radial defect and 1 of them developed poikiloderma. In this family, compound heterozygosity for an R1021W missense mutation (<a href="/entry/603780#0012">603780.0012</a>) and a frameshift mutation in exon 9 (<a href="/entry/603780#0005">603780.0005</a>) was found. The second family had been reported by <a href="#16" class="mim-tip-reference" title="Megarbane, A., Melki, I., Souraty, N., Gerbaka, J., El Ghouzzi, V., Bonaventure, J., Mornand, A., Loiselet, J. <strong>Overlap between Baller-Gerold and Rothmund-Thomson syndrome.</strong> Clin. Dysmorph. 9: 303-305, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11045594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11045594</a>] [<a href="https://doi.org/10.1097/00019605-200009040-00018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11045594">Megarbane et al. (2000)</a>. The one affected member was the son of first-cousin parents. He had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation of the RECQL4 gene (IVS17-2A-C; <a href="/entry/603780#0014">603780.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1583650+15964893+11045594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#23" class="mim-tip-reference" title="Van Maldergem, L., Siitonen, H. A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E. W., Cai, J., Wang, L. L., Plon, S. E., Fourneau, C., Kestila, M., Gillerot, Y., Megarbane, A., Verloes, A. <strong>Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.</strong> J. Med. Genet. 43: 148-152, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15964893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15964893</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15964893[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/10.1136/jmg.2005.031781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15964893">Van Maldergem et al. (2006)</a> republished a clinical photograph of Baller's original patient. They pointed out that the first patient appeared to have changes in the skin of the forearm compatible with poikiloderma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15964893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Anyane-Yeboa1980" class="mim-tip-reference" title="Anyane-Yeboa, K., Gunning, L., Bloom, A. D. <strong>Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.</strong> Clin. Genet. 17: 161-166, 1980.">Anyane-Yeboa et al. (1980)</a>; <a href="#Feingold1979" class="mim-tip-reference" title="Feingold, M., Sklower, S. L., Willner, J. P., Desnick, R. H., Cohen, M. M. <strong>Craniosynostosis-radial aplasia: Baller-Gerold syndrome.</strong> Am. J. Dis. Child. 133: 1279-1280, 1979.">Feingold et al. (1979)</a>; <a href="#Greitzer1974" class="mim-tip-reference" title="Greitzer, L. J., Jones, K. L., Schnall, B. S., Smith, D. W. <strong>Craniosynostosis-radial aplasia syndrome.</strong> J. Pediat. 84: 723-724, 1974.">Greitzer et al.
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Anyane-Yeboa, K., Gunning, L., Bloom, A. D.
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<strong>Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.</strong>
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Clin. Genet. 17: 161-166, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7363501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7363501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7363501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00126.x" target="_blank">Full Text</a>]
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Baller, F.
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<strong>Radiusaplasie und Inzucht.</strong>
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Z. Menschl. Vererb. Konstitutionsl. 29: 782-790, 1950.
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Boudreaux, J. M., Colon, M. A., Lorusso, G. D., Parro, E. A., Pelias, M. Z.
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<strong>Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia.</strong>
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Am. J. Med. Genet. 37: 447-450, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2260585" 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.1320370403" target="_blank">Full Text</a>]
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Cohen, M. M., Jr., Toriello, H. V.
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<strong>Is there a Baller-Gerold syndrome? (Editorial)</strong>
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Am. J. Med. Genet. 61: 63-64, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8741920" 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.1320610103" target="_blank">Full Text</a>]
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Dallapiccola, B., Zelante, L., Mingarelli, R., Pellegrino, M., Bertozzi, V.
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<strong>Baller-Gerold syndrome: case report and clinical and radiological review.</strong>
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Am. J. Med. Genet. 42: 365-368, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1536180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1536180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1536180" 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.1320420323" target="_blank">Full Text</a>]
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de Oliveira, R., Lajeunie, E., Arnaud, E., Greensmith, A., Renier, D.
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<strong>Baller-Gerold syndrome after fetal exposure to sodium valproate. (Letter)</strong>
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Am. J. Med. Genet. 134A: 113 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15732083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15732083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15732083" 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.30385" target="_blank">Full Text</a>]
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Farrell, S. A., Paes, B. A., Lewis, M. E. S.
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<strong>Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (Letter)</strong>
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Am. J. Med. Genet. 50: 98-99, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8160763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8160763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8160763" 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.1320500123" target="_blank">Full Text</a>]
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<a id="Feingold1979" class="mim-anchor"></a>
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Feingold, M., Sklower, S. L., Willner, J. P., Desnick, R. H., Cohen, M. M.
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<strong>Craniosynostosis-radial aplasia: Baller-Gerold syndrome.</strong>
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Am. J. Dis. Child. 133: 1279-1280, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/517480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">517480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=517480" 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/10.1001/archpedi.1979.02130120071014" target="_blank">Full Text</a>]
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Galea, P., Tolmie, J. L.
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<strong>Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).</strong>
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J. Med. Genet. 27: 784-787, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2074565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2074565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2074565" 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/10.1136/jmg.27.12.784" target="_blank">Full Text</a>]
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Gerold, M.
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<strong>Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen. (Healing of a fracture in an unusual case of congenital anomaly of the upper extremities).</strong>
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Zbl. Chir. 84: 831-834, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13669699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13669699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13669699" 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="Greitzer1974" class="mim-anchor"></a>
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Greitzer, L. J., Jones, K. L., Schnall, B. S., Smith, D. W.
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<strong>Craniosynostosis-radial aplasia syndrome.</strong>
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J. Pediat. 84: 723-724, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4820706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4820706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4820706" 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/s0022-3476(74)80017-x" target="_blank">Full Text</a>]
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Gripp, K. W., Stolle, C. A., Celle, L., McDonald-McGinn, D. M., Whitaker, L. A., Zackai, E. H.
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<strong>TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.</strong>
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Am. J. Med. Genet. 82: 170-176, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9934984" 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(19990115)82:2<170::aid-ajmg14>3.0.co;2-x" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Huson1990" class="mim-anchor"></a>
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<p class="mim-text-font">
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Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M.
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<strong>The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.</strong>
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J. Med. Genet. 27: 371-375, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2359099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2359099</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2359099" 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/10.1136/jmg.27.6.371" target="_blank">Full Text</a>]
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<a id="Lewis1991" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lewis, M. E. S., Rosenbaum, P. L., Paes, B. A.
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<strong>Baller-Gerold syndrome associated with congenital hydrocephalus.</strong>
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Am. J. Med. Genet. 40: 307-310, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951434" 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.1320400312" target="_blank">Full Text</a>]
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<a id="Lin1993" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lin, A. E., McPherson, E., Nwokoro, N. A., Clemens, M., Losken, H. W., Mulvihill, J. J.
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<strong>Further delineation of the Baller-Gerold syndrome.</strong>
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Am. J. Med. Genet. 45: 519-524, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465861</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8465861" 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.1320450423" target="_blank">Full Text</a>]
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<a id="Megarbane2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Megarbane, A., Melki, I., Souraty, N., Gerbaka, J., El Ghouzzi, V., Bonaventure, J., Mornand, A., Loiselet, J.
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<strong>Overlap between Baller-Gerold and Rothmund-Thomson syndrome.</strong>
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|
Clin. Dysmorph. 9: 303-305, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11045594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11045594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11045594" 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/10.1097/00019605-200009040-00018" target="_blank">Full Text</a>]
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<a id="Pelias1981" class="mim-anchor"></a>
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Pelias, M. Z., Superneau, D. W., Thurmon, T. F.
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<strong>A sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome.</strong>
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Am. J. Med. Genet. 10: 133-139, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7315870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7315870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7315870" 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.1320100206" target="_blank">Full Text</a>]
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<a id="Porteous1992" class="mim-anchor"></a>
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Porteous, M. E. M., Cross, I., Burn, J.
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<strong>VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?</strong>
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Am. J. Med. Genet. 43: 1032-1034, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415330" 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.1320430624" target="_blank">Full Text</a>]
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<a id="Ramos Fuentes1994" class="mim-anchor"></a>
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Ramos Fuentes, F. J., Nicholson, L., Scott, C. I., Jr.
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<strong>Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.</strong>
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Europ. J. Pediat. 153: 483-487, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7957363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7957363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7957363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01957001" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Rossbach1996" class="mim-anchor"></a>
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Rossbach, H.-C., Sutcliffe, M. J., Haag, M. M., Grana, N. H., Rossi, A. R., Barbosa, J. L.
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<strong>Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome.</strong>
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Am. J. Med. Genet. 61: 65-67, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741921</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8741921" 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(19960102)61:1<65::AID-AJMG12>3.0.CO;2-U" target="_blank">Full Text</a>]
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<a id="Seto2001" class="mim-anchor"></a>
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Seto, M. L., Lee, S. J., Sze, R. W., Cunningham, M. L.
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<strong>Another TWIST on Baller-Gerold syndrome.</strong>
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Am. J. Med. Genet. 104: 323-330, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11754069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11754069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11754069" 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.10065" target="_blank">Full Text</a>]
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<a id="Toriello1991" class="mim-anchor"></a>
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Toriello, H. V., Pearson, D. V. M., Sommer, A.
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<strong>Verification of the existence of a severe form of Fanconi pancytopenia.</strong>
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Proc. Greenwood Genet. Center. 11: 142, 1991.
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<a id="Van Maldergem2006" class="mim-anchor"></a>
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Van Maldergem, L., Siitonen, H. A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E. W., Cai, J., Wang, L. L., Plon, S. E., Fourneau, C., Kestila, M., Gillerot, Y., Megarbane, A., Verloes, A.
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<strong>Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.</strong>
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J. Med. Genet. 43: 148-152, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15964893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15964893</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15964893[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=15964893" 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/10.1136/jmg.2005.031781" target="_blank">Full Text</a>]
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Van Maldergem, L., Verloes, A., Lejeune, L., Gillerot, Y.
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<strong>The Baller-Gerold syndrome.</strong>
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J. Med. Genet. 29: 266-268, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583650</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1583650" 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/10.1136/jmg.29.4.266" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/17/2009
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/29/2006<br>Victor A. McKusick - updated : 3/9/2006<br>Sonja A. Rasmussen - updated : 1/3/2002<br>Victor A. McKusick - updated : 2/14/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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alopez : 07/13/2023
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carol : 10/20/2021<br>carol : 06/11/2021<br>carol : 10/26/2017<br>carol : 04/14/2015<br>carol : 3/24/2014<br>carol : 8/31/2011<br>wwang : 10/1/2009<br>terry : 9/17/2009<br>wwang : 10/6/2006<br>ckniffin : 9/29/2006<br>alopez : 3/15/2006<br>alopez : 3/15/2006<br>terry : 3/9/2006<br>carol : 1/7/2002<br>mcapotos : 1/3/2002<br>carol : 2/14/1999<br>alopez : 8/31/1998<br>terry : 7/9/1997<br>terry : 7/9/1997<br>mark : 2/17/1996<br>terry : 2/14/1996<br>carol : 9/23/1994<br>jason : 6/7/1994<br>mimadm : 2/19/1994<br>carol : 2/25/1993<br>carol : 5/29/1992<br>supermim : 3/16/1992
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<strong>#</strong> 218600
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BALLER-GEROLD SYNDROME; BGS
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CRANIOSYNOSTOSIS WITH RADIAL DEFECTS<br />
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CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME
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<strong>SNOMEDCT:</strong> 77608001;
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<strong>ORPHA:</strong> 1225;
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<strong>DO:</strong> 0050654;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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8q24.3
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Baller-Gerold syndrome
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<span class="mim-font">
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218600
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Autosomal recessive
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3
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RECQL4
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603780
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<span class="mim-font">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Baller-Gerold syndrome (BGS) is caused by homozygous or compound heterozygous mutation in the RECQL4 gene (603780) on chromosome 8p24.</p><p>Rothmund-Thomson syndrome type 2 (268400), which shows phenotypic overlap with BGS, is also caused by biallelic mutation in the RECQL4 gene.</p>
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<strong>Description</strong>
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<p>The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia (Galea and Tolmie, 1990). Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome (SCS; 101400). </p>
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<strong>Clinical Features</strong>
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<p>Baller (1950) described a female with oxycephaly and absent radius. The parents were third cousins. Gerold (1959) described a brother and sister, aged 16 years and 2 days, with tower skull, radial aplasia, and slight ulnar hypoplasia. Pelias et al. (1981) observed parental consanguinity. Their patient also had bilateral conductive hearing loss; auditory deficit was not observed in earlier reported cases. The radial deficiency is not necessarily symmetric. In all cases the ulna is short and curved. Malformation or absence of some carpals and metacarpals, and absent or hypoplastic thumbs have been observed in some cases. The patients are almost always short. Skeletal anomalies of the spine and pelvis are frequent. Anteriorly placed anus and imperforate anus with either perineal fistula or rectovaginal fistula have been observed. Anomalies of the heart and urogenital system and mental and/or motor retardation have been noted in some patients. </p><p>Boudreaux et al. (1990) reported the alleged eleventh case of Baller-Gerold syndrome; probable parental consanguinity supported autosomal recessive inheritance. Galea and Tolmie (1990) described a sporadic case. They pointed out that the published cases, still few in number, can be divided into those with craniosynostosis and radial defects alone and those with additional malformations. Their case was of the former type. They stated: 'Although the Baller-Gerold syndrome is allocated an asterisk in the autosomal recessive section of McKusick's catalogue, we are at present uncomfortable with the prospect of reassuring our proband that his own children have a negligible risk of being affected.' Because of possible genetic heterogeneity, their caution may be appropriate. </p><p>The patient reported by Dallapiccola et al. (1992) had, in addition to the cranial and radial features, imperforate anus, rectovaginal fistula, prenatal growth deficiency, and mental retardation. Van Maldergem et al. (1992) described a newborn who lived only 2 hours and had extensive agenesis of the frontal and parietal bones resulting in a very large fontanel in addition to coronal bilateral craniosynostosis. Anterior placement of the anus and pancreatic islet cell hypertrophy were also noted. Lin et al. (1993) described 3 new cases, bringing the total number of reported cases to 20. Two of their patients were sibs. Ramos Fuentes et al. (1994) described unusually mild involvement in a 3-year-old boy with trigonocephaly and bilateral absent radii and thumbs. His growth and psychomotor development had been normal. No visceral anomalies were found. Ramos Fuentes et al. (1994) found reports of 21 cases in the 'Western literature.' </p><p>In the 2 families studied by Van Maldergem et al. (2006) with mutations in the RECQL4 gene, affected individuals had craniosynostosis, radial defects, and growth retardation, and 2 patients developed poikiloderma. </p><p><strong><em>Phenotypic Overlap</em></strong></p><p>
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Huson et al. (1990) described a patient with craniostenosis and radial aplasia which led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis, and similarity of the facial phenotype to that of Roberts syndrome (268300) was noted. Chromosome analysis showed the premature centromere separation characteristic of that condition. The case raised the question as to whether the Baller-Gerold syndrome should be considered a distinct entity. Huson et al. (1990) suggested that cases diagnosed as having Baller-Gerold syndrome should have cytogenetic analysis and, conversely, that known Roberts syndrome survivors should be reviewed for signs of craniostenosis. </p><p>Lewis et al. (1991) observed association with congenital hydrocephalus which was detected along with the other abnormalities by ultrasound at 26 weeks' gestation. However, the diagnosis of Baller-Gerold syndrome was later changed by Farrell et al. (1994): when the patient was reviewed at age 3 years, chronic thrombocytopenia was noted. This new finding, combined with the pattern of anomalies (bilateral radial ray defects, right renal dysplasia, ventricular septal defect, anteriorly placed anus, and persistent cloaca), led to consideration of the diagnosis of Fanconi anemia (227650). Diepoxybutane (DEB) chromosome testing in 2 laboratories showed an elevated rate of mean chromosome breaks per cell consistent with that diagnosis. Farrell et al. (1994) pointed out that VACTERL with hydrocephalus (276950) has also been shown to represent Fanconi anemia on the basis of chromosome breakage studies. </p><p>Rossbach et al. (1996) described 2 brothers with presumed Baller-Gerold syndrome, one of whom had previously been diagnosed with the association of vertebral, cardiac, renal and limb anomalies, anal atresia, and tracheoesophageal fistula (VACTERL) with hydrocephalus, who were evaluated for chromosome breakage because of severe thrombocytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to controls. Clinical manifestations and chromosome breakage consistent with Fanconi anemia had been reported earlier in patients with a prior diagnosis of Baller-Gerold syndrome by Farrell et al. (1994) and in 3 patients with the VACTERL association with hydrocephalus by Toriello et al. (1991) and Porteous et al. (1992). The authors commented that the observations underscore the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variants of the same disorder. Cohen and Toriello (1996) likewise raised the question 'Is there a Baller-Gerold syndrome?' </p><p>As outlined earlier, phenotypic overlap of Baller-Gerold syndrome with several other syndromes required narrowing the definition of Baller-Gerold syndrome. The finding of premature centromere separation pointed to Roberts syndrome rather than BGS as indicated by Huson et al. (1990). Other cases of presumed Baller-Gerold syndrome were rediagnosed as Fanconi pancytopenia or VACTERL association (Rossbach et al., 1996). Such reports led to a narrowed redefinition of BGS based on the exclusion of cytogenetic and hematopoietic abnormalities and the absence of additional malformations in patients with craniosynostosis and preaxial upper limb abnormalities. Gripp et al. (1999) reported on a patient with unilateral radial aplasia and bicoronal synostosis without additional malformations and without chromosome breakage, who fitted this narrow definition of Baller-Gerold syndrome. They identified a novel mutation in the TWIST gene (601622.0008), which is characteristic of Saethre-Chotzen syndrome. Because the TWIST mutation pointed to the diagnosis of SCS, the whole family was investigated. Facial asymmetry, prominent nose, high palate, and hallux valgus observed in the father and older sister were consistent with mild presentation of SCS and these 2 individuals were found also to carry the TWIST mutation. This experience further points to the question raised by Cohen and Toriello (1996) of whether there is a Baller-Gerold syndrome. The patient of Gripp et al. (1999) illustrated the practical significance of the distinction. BGS has been thought to be an autosomal recessive disorder; the Saethre-Chotzen syndrome is an autosomal dominant disorder. </p><p>Seto et al. (2001) reported a patient with characteristic features of Baller-Gerold syndrome, including metopic, sagittal, and coronal synostosis and bilateral radial ray hypoplasia, with a novel mutation in the TWIST gene (601622.0010). Other features included small, round ears with prominent crus helices and cervical anomalies. The father, who also carried the mutation, had very mild features of Saethre-Chotzen syndrome. Since mutations in the TWIST gene are typically associated with SCS, the authors suggested that some cases of Baller-Gerold syndrome should be reclassified as a heterogeneous form of Saethre-Chotzen syndrome. </p><p>De Oliveira et al. (2005) reported 3 patients with a history of fetal exposure to sodium valproate who were born with metopic synostosis and upper limb malformations similar to Baller-Gerold syndrome. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of BGS in the families reported by Van Maldergem et al. (2006) was consistent with autosomal recessive inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Baller-Gerold syndrome is caused by mutations in the RECQL4 gene (603780) and therefore maps to chromosome 8q24.3 (Van Maldergem et al., 2006). </p>
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</span>
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>Van Maldergem et al. (2006) pointed out the clinical overlap between BGS and Rothmund-Thomson syndrome (RTS; 268400) and RAPADILINO syndrome (266280). Because patients with RAPADILINO syndrome and a subset of patients with RTS have mutations in the RECQL4 gene (603780), they reassessed 2 previously reported BGS families and found causal mutations in RECQL4 in both. In the first family, reported by Van Maldergem et al. (1992), 4 affected offspring had craniosynostosis and radial defect and 1 of them developed poikiloderma. In this family, compound heterozygosity for an R1021W missense mutation (603780.0012) and a frameshift mutation in exon 9 (603780.0005) was found. The second family had been reported by Megarbane et al. (2000). The one affected member was the son of first-cousin parents. He had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation of the RECQL4 gene (IVS17-2A-C; 603780.0014). </p>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</div>
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<span class="mim-text-font">
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<p>Van Maldergem et al. (2006) republished a clinical photograph of Baller's original patient. They pointed out that the first patient appeared to have changes in the skin of the forearm compatible with poikiloderma. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Anyane-Yeboa et al. (1980); Feingold et al. (1979); Greitzer et al.
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(1974)
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</span>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Anyane-Yeboa, K., Gunning, L., Bloom, A. D.
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<strong>Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.</strong>
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Clin. Genet. 17: 161-166, 1980.
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[PubMed: 7363501]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00126.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Baller, F.
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<strong>Radiusaplasie und Inzucht.</strong>
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Z. Menschl. Vererb. Konstitutionsl. 29: 782-790, 1950.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Boudreaux, J. M., Colon, M. A., Lorusso, G. D., Parro, E. A., Pelias, M. Z.
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<strong>Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia.</strong>
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Am. J. Med. Genet. 37: 447-450, 1990.
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[PubMed: 2260585]
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[Full Text: https://doi.org/10.1002/ajmg.1320370403]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cohen, M. M., Jr., Toriello, H. V.
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<strong>Is there a Baller-Gerold syndrome? (Editorial)</strong>
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Am. J. Med. Genet. 61: 63-64, 1996.
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[PubMed: 8741920]
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[Full Text: https://doi.org/10.1002/ajmg.1320610103]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dallapiccola, B., Zelante, L., Mingarelli, R., Pellegrino, M., Bertozzi, V.
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<strong>Baller-Gerold syndrome: case report and clinical and radiological review.</strong>
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Am. J. Med. Genet. 42: 365-368, 1992.
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[PubMed: 1536180]
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[Full Text: https://doi.org/10.1002/ajmg.1320420323]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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de Oliveira, R., Lajeunie, E., Arnaud, E., Greensmith, A., Renier, D.
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<strong>Baller-Gerold syndrome after fetal exposure to sodium valproate. (Letter)</strong>
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Am. J. Med. Genet. 134A: 113 only, 2005.
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[PubMed: 15732083]
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[Full Text: https://doi.org/10.1002/ajmg.a.30385]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Farrell, S. A., Paes, B. A., Lewis, M. E. S.
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<strong>Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (Letter)</strong>
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Am. J. Med. Genet. 50: 98-99, 1994.
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[PubMed: 8160763]
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[Full Text: https://doi.org/10.1002/ajmg.1320500123]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Feingold, M., Sklower, S. L., Willner, J. P., Desnick, R. H., Cohen, M. M.
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<strong>Craniosynostosis-radial aplasia: Baller-Gerold syndrome.</strong>
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Am. J. Dis. Child. 133: 1279-1280, 1979.
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[PubMed: 517480]
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[Full Text: https://doi.org/10.1001/archpedi.1979.02130120071014]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Galea, P., Tolmie, J. L.
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<strong>Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).</strong>
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J. Med. Genet. 27: 784-787, 1990.
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[PubMed: 2074565]
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[Full Text: https://doi.org/10.1136/jmg.27.12.784]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gerold, M.
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<strong>Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen. (Healing of a fracture in an unusual case of congenital anomaly of the upper extremities).</strong>
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Zbl. Chir. 84: 831-834, 1959.
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[PubMed: 13669699]
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</p>
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<li>
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<p class="mim-text-font">
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Greitzer, L. J., Jones, K. L., Schnall, B. S., Smith, D. W.
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<strong>Craniosynostosis-radial aplasia syndrome.</strong>
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J. Pediat. 84: 723-724, 1974.
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[PubMed: 4820706]
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[Full Text: https://doi.org/10.1016/s0022-3476(74)80017-x]
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<p class="mim-text-font">
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Gripp, K. W., Stolle, C. A., Celle, L., McDonald-McGinn, D. M., Whitaker, L. A., Zackai, E. H.
|
|
<strong>TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.</strong>
|
|
Am. J. Med. Genet. 82: 170-176, 1999.
|
|
|
|
|
|
[PubMed: 9934984]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M.
|
|
<strong>The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.</strong>
|
|
J. Med. Genet. 27: 371-375, 1990.
|
|
|
|
|
|
[PubMed: 2359099]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.27.6.371]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lewis, M. E. S., Rosenbaum, P. L., Paes, B. A.
|
|
<strong>Baller-Gerold syndrome associated with congenital hydrocephalus.</strong>
|
|
Am. J. Med. Genet. 40: 307-310, 1991.
|
|
|
|
|
|
[PubMed: 1951434]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320400312]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lin, A. E., McPherson, E., Nwokoro, N. A., Clemens, M., Losken, H. W., Mulvihill, J. J.
|
|
<strong>Further delineation of the Baller-Gerold syndrome.</strong>
|
|
Am. J. Med. Genet. 45: 519-524, 1993.
|
|
|
|
|
|
[PubMed: 8465861]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320450423]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Megarbane, A., Melki, I., Souraty, N., Gerbaka, J., El Ghouzzi, V., Bonaventure, J., Mornand, A., Loiselet, J.
|
|
<strong>Overlap between Baller-Gerold and Rothmund-Thomson syndrome.</strong>
|
|
Clin. Dysmorph. 9: 303-305, 2000.
|
|
|
|
|
|
[PubMed: 11045594]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00019605-200009040-00018]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pelias, M. Z., Superneau, D. W., Thurmon, T. F.
|
|
<strong>A sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome.</strong>
|
|
Am. J. Med. Genet. 10: 133-139, 1981.
|
|
|
|
|
|
[PubMed: 7315870]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320100206]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Porteous, M. E. M., Cross, I., Burn, J.
|
|
<strong>VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?</strong>
|
|
Am. J. Med. Genet. 43: 1032-1034, 1992.
|
|
|
|
|
|
[PubMed: 1415330]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320430624]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ramos Fuentes, F. J., Nicholson, L., Scott, C. I., Jr.
|
|
<strong>Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.</strong>
|
|
Europ. J. Pediat. 153: 483-487, 1994.
|
|
|
|
|
|
[PubMed: 7957363]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01957001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Rossbach, H.-C., Sutcliffe, M. J., Haag, M. M., Grana, N. H., Rossi, A. R., Barbosa, J. L.
|
|
<strong>Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome.</strong>
|
|
Am. J. Med. Genet. 61: 65-67, 1996.
|
|
|
|
|
|
[PubMed: 8741921]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.0.CO;2-U]
|
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|
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|
</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Seto, M. L., Lee, S. J., Sze, R. W., Cunningham, M. L.
|
|
<strong>Another TWIST on Baller-Gerold syndrome.</strong>
|
|
Am. J. Med. Genet. 104: 323-330, 2001.
|
|
|
|
|
|
[PubMed: 11754069]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.10065]
|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Toriello, H. V., Pearson, D. V. M., Sommer, A.
|
|
<strong>Verification of the existence of a severe form of Fanconi pancytopenia.</strong>
|
|
Proc. Greenwood Genet. Center. 11: 142, 1991.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Van Maldergem, L., Siitonen, H. A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E. W., Cai, J., Wang, L. L., Plon, S. E., Fourneau, C., Kestila, M., Gillerot, Y., Megarbane, A., Verloes, A.
|
|
<strong>Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.</strong>
|
|
J. Med. Genet. 43: 148-152, 2006.
|
|
|
|
|
|
[PubMed: 15964893]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2005.031781]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Van Maldergem, L., Verloes, A., Lejeune, L., Gillerot, Y.
|
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<strong>The Baller-Gerold syndrome.</strong>
|
|
J. Med. Genet. 29: 266-268, 1992.
|
|
|
|
|
|
[PubMed: 1583650]
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[Full Text: https://doi.org/10.1136/jmg.29.4.266]
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