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Entry
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- #112310 - BOOMERANG DYSPLASIA; BOOMD
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- OMIM
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<p>
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<span class="h4">#112310</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/112310"><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="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=BOOMERANG DYSPLASIA" 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=1501&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/NBK2534/" 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/895" 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/boomerang-dysplasia" 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=112310[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=1263" 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/690c4cc8-2dae-4565-ae92-d43dbae58585/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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<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:0050680" 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/112310" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050680" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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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> 254054000<br />
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<strong>ORPHA:</strong> 1263<br />
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<strong>DO:</strong> 0050680<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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112310
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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BOOMERANG DYSPLASIA; BOOMD
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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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<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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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/3/418?start=-3&limit=10&highlight=418">
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3p14.3
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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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Boomerang dysplasia
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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/112310"> 112310 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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FLNB
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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/603381"> 603381 </a>
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</span>
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</td>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/112310" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/112310" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/112310" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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<div style="margin-left: 2em;">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<span class="h5 mim-font">
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<strong> GROWTH </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Height </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Dwarfism <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>]</span> <span class="mim-feature-ids hidden">[UMLS: <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>]</span> <span class="mim-feature-ids hidden">[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>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="h5 mim-font">
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<em> Face </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Broad nasal root <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849367</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span><br /> -
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Hypoplastic nares and septum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232214</a>]</span><br />
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Retarded ossification of lower spine and digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232210</a>]</span><br />
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</span>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Pelvis </em>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Small iliac bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008824</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008824</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Limbs </em>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Short, bowed, rigid limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232211&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232211</a>]</span><br /> -
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Absent radii and fibulae with boomerang shaped remaining long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232212&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232212</a>]</span><br />
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</span>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Neonatal death <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276506001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276506001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410916&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410916</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003811</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003811</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the filamin-beta gene (FLNB, <a href="/entry/603381#0009">603381.0009</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that boomerang dysplasia (BOOMD) is caused by heterozygous mutation in the FLNB gene (<a href="/entry/603381">603381</a>) on chromosome 3p14.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Boomerang dysplasia (BOOMD) is a perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae (summary by <a href="#2" class="mim-tip-reference" title="Bicknell, L. S., Morgan, T., Bonafe, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., Robertson, S. P. <strong>Mutations in FLNB cause boomerang dysplasia.</strong> J. Med. Genet. 42: e43, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994868</a>] [<a href="https://doi.org/10.1136/jmg.2004.029967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15994868">Bicknell et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15994868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#6" class="mim-tip-reference" title="Kozlowski, K., Tsuruta, T., Kameda, Y., Kan, A., Leslie, G. <strong>New forms of neonatal death dwarfism: report of 3 cases.</strong> Pediat. Radiol. 10: 155-160, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7194471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7194471</a>] [<a href="https://doi.org/10.1007/BF00975190" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7194471">Kozlowski et al. (1981)</a>, <a href="#9" class="mim-tip-reference" title="Tenconi, R., Kozlowski, K., Largaiolli, G. <strong>Boomerang dysplasia: a new form of neonatal death dwarfism.</strong> Fortschr. Geb. Roentgenstr. Nuklearmed. 138: 378-380, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6403439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6403439</a>]" pmid="6403439">Tenconi et al. (1983)</a>, and <a href="#5" class="mim-tip-reference" title="Kozlowski, K., Sillence, D., Cortis-Jones, R., Osborn, R. <strong>Boomerang dysplasia.</strong> Brit. J. Radiol. 58: 369-371, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4063680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4063680</a>] [<a href="https://doi.org/10.1259/0007-1285-58-688-369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4063680">Kozlowski et al. (1985)</a> each described 1 patient with a disorder termed boomerang dysplasia because of the unusual shape of the long bones of the legs. All 3 patients died in the neonatal period. They had dwarfism with short, bowed, rigid limbs and characteristic facies. In particular, the nose had a broad root and severe hypoplasia of the nares and septum. Radiographically, the radii and fibulae were absent, while the remaining long bones had the boomerang configuration. The iliac bodies were small and ossification in the lower spine and digits was retarded. All 3 patients were males, from Japan, Italy, and Australia. <a href="#12" class="mim-tip-reference" title="Winship, I., Cremin, B., Beighton, P. <strong>Boomerang dysplasia.</strong> Am. J. Med. Genet. 36: 440-443, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2202214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2202214</a>] [<a href="https://doi.org/10.1002/ajmg.1320360413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2202214">Winship et al. (1990)</a> described a fourth patient, again a male infant. Shortened boomerang-shaped radii, femora, and tibias were noted. The vertebral borders showed coronal clefts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2202214+7194471+6403439+4063680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hunter, A. G. W., Carpenter, B. F. <strong>Atelosteogenesis I and boomerang dysplasia: a question of nosology.</strong> Clin. Genet. 39: 471-480, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1863996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1863996</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03060.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1863996">Hunter and Carpenter (1991)</a> described a patient with apparent manifestations of both type I atelosteogenesis (<a href="/entry/108720">108720</a>) and boomerang dysplasia and concluded that these disorders are 'part of a spectrum, probably reflecting a common etiology.' <a href="#3" class="mim-tip-reference" title="Greally, M. T., Jewett, T., Smith, W. L., Jr., Penick, G. D., Williamson, R. A. <strong>Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia.</strong> Am. J. Med. Genet. 47: 1086-1091, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8291529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8291529</a>] [<a href="https://doi.org/10.1002/ajmg.1320470731" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8291529">Greally et al. (1993)</a> presented a case that supported the hypothesis of <a href="#4" class="mim-tip-reference" title="Hunter, A. G. W., Carpenter, B. F. <strong>Atelosteogenesis I and boomerang dysplasia: a question of nosology.</strong> Clin. Genet. 39: 471-480, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1863996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1863996</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03060.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1863996">Hunter and Carpenter (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1863996+8291529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Urioste, M., Rodriguez, J. I., Bofarull, J. M., Toran, N., Ferrer, C., Villa, A. <strong>Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia.</strong> Am. J. Med. Genet. 68: 342-346, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024569</a>]" pmid="9024569">Urioste et al. (1997)</a> reported a possible case of boomerang dysplasia in the offspring of healthy, nonconsanguineous parents. Delivery was induced at 27 weeks of gestation. He was markedly disproportionate with a large head, very short and flipper-like limbs, numerous malformations, and generalized alopecia. Radiologic skeletal examination showed generalized underossification. The pubic bones were absent. Only one well-ossified and bowed bone was observed in the legs, which had the appearance of a boomerang. Histologic studies showed multinucleated giant chondrocytes in the cartilage. The karyotype was apparently normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9024569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Odent, S., Loget, P., Le Marec, B., Delezoide, A.-L., Maroteaux, P. <strong>Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.</strong> J. Med. Genet. 36: 330-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10227404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10227404</a>]" pmid="10227404">Odent et al. (1999)</a> reported a female fetus of 24 weeks' gestation with clinical and radiologic features compatible with boomerang dysplasia. Histopathology, however, showed unusual lateral fan-shaped diaphyseal ossification. <a href="#8" class="mim-tip-reference" title="Odent, S., Loget, P., Le Marec, B., Delezoide, A.-L., Maroteaux, P. <strong>Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.</strong> J. Med. Genet. 36: 330-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10227404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10227404</a>]" pmid="10227404">Odent et al. (1999)</a> concluded that these features represented a variant of boomerang dysplasia with clinical characteristics of both atelosteogenesis type I and boomerang dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10227404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Wessels, M. W., Den Hollander, N. S., De Krijger, R. R., Bonife, L., Superti-Furga, A., Nikkels, P. G., Willems, P. J. <strong>Prenatal diagnosis of boomerang dysplasia.</strong> Am. J. Med. Genet. 122A: 148-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12955767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12955767</a>] [<a href="https://doi.org/10.1002/ajmg.a.20239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12955767">Wessels et al. (2003)</a> reported a male fetus with boomerang dysplasia that was diagnosed by ultrasound at 16 weeks of gestation. Delivery was induced at 17 weeks of gestation; postdelivery examination revealed dwarfism and micromelia of the 4 limbs. In each limb only 1 of the 3 long tubular bones was ossified; the presumed radius had a boomerang shape and the presumed tibia had a segment shape. The hands and feet were very short and broad with severe brachydactyly. The ossification centers of all vertebrae except for T11-12 and L1-3 were absent. The thorax was small and bell-shaped with short ribs. The skull showed micrognathia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12955767" 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 heterozygous mutation in the FLNB gene that was identified in a fetus (case 1) with BOOMD by <a href="#2" class="mim-tip-reference" title="Bicknell, L. S., Morgan, T., Bonafe, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., Robertson, S. P. <strong>Mutations in FLNB cause boomerang dysplasia.</strong> J. Med. Genet. 42: e43, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994868</a>] [<a href="https://doi.org/10.1136/jmg.2004.029967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15994868">Bicknell et al. (2005)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15994868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 22-week male fetus reported by <a href="#7" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> and a 17-week male fetus described by <a href="#11" class="mim-tip-reference" title="Wessels, M. W., Den Hollander, N. S., De Krijger, R. R., Bonife, L., Superti-Furga, A., Nikkels, P. G., Willems, P. J. <strong>Prenatal diagnosis of boomerang dysplasia.</strong> Am. J. Med. Genet. 122A: 148-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12955767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12955767</a>] [<a href="https://doi.org/10.1002/ajmg.a.20239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12955767">Wessels et al. (2003)</a>, both diagnosed with boomerang dysplasia, <a href="#2" class="mim-tip-reference" title="Bicknell, L. S., Morgan, T., Bonafe, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., Robertson, S. P. <strong>Mutations in FLNB cause boomerang dysplasia.</strong> J. Med. Genet. 42: e43, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994868</a>] [<a href="https://doi.org/10.1136/jmg.2004.029967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15994868">Bicknell et al. (2005)</a> identified heterozygosity for mutations in the FLNB gene, leu171 to arg (L171R; <a href="/entry/603381#0009">603381.0009</a>) and ser235 to pro (S235P; <a href="/entry/603381#0010">603381.0010</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15994868+12955767+14991055" 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="#Beighton1988" class="mim-tip-reference" title="Beighton, P. <strong>Inherited Disorders of the Skeleton. (2nd ed.)</strong> London: Churchill Livingstone (pub.) 1988. Pp. 99-100.">Beighton (1988)</a>
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J. Med. Genet. 42: e43, 2005. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15994868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia.</strong>
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Am. J. Med. Genet. 47: 1086-1091, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8291529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8291529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8291529" 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.1320470731" target="_blank">Full Text</a>]
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Clin. Genet. 39: 471-480, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1863996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1863996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1863996" 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.1399-0004.1991.tb03060.x" target="_blank">Full Text</a>]
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Brit. J. Radiol. 58: 369-371, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4063680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4063680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4063680" 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/10.1259/0007-1285-58-688-369" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Kozlowski1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kozlowski, K., Tsuruta, T., Kameda, Y., Kan, A., Leslie, G.
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<strong>New forms of neonatal death dwarfism: report of 3 cases.</strong>
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Pediat. Radiol. 10: 155-160, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7194471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7194471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7194471" 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/BF00975190" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Krakow2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others.
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<strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong>
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Nature Genet. 36: 405-410, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1319" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Odent1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Odent, S., Loget, P., Le Marec, B., Delezoide, A.-L., Maroteaux, P.
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<strong>Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.</strong>
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J. Med. Genet. 36: 330-332, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10227404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10227404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10227404" 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="9" class="mim-anchor"></a>
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<a id="Tenconi1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tenconi, R., Kozlowski, K., Largaiolli, G.
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<strong>Boomerang dysplasia: a new form of neonatal death dwarfism.</strong>
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Fortschr. Geb. Roentgenstr. Nuklearmed. 138: 378-380, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6403439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6403439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6403439" 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="10" class="mim-anchor"></a>
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<a id="Urioste1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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Urioste, M., Rodriguez, J. I., Bofarull, J. M., Toran, N., Ferrer, C., Villa, A.
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<strong>Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia.</strong>
|
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Am. J. Med. Genet. 68: 342-346, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9024569" 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="Wessels2003" class="mim-anchor"></a>
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Wessels, M. W., Den Hollander, N. S., De Krijger, R. R., Bonife, L., Superti-Furga, A., Nikkels, P. G., Willems, P. J.
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<strong>Prenatal diagnosis of boomerang dysplasia.</strong>
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Am. J. Med. Genet. 122A: 148-154, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12955767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12955767</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12955767" 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.20239" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Winship1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Winship, I., Cremin, B., Beighton, P.
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<strong>Boomerang dysplasia.</strong>
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Am. J. Med. Genet. 36: 440-443, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2202214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2202214</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2202214" 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.1320360413" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/19/2005
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 8/24/2005<br>Wilson H. Y. Lo - updated : 4/27/2000<br>Michael J. Wright - updated : 7/9/1999
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</span>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/9/1989
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 11/18/2022
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<span class="mim-text-font">
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alopez : 11/18/2022<br>carol : 01/24/2020<br>carol : 06/05/2019<br>carol : 07/09/2016<br>carol : 4/26/2016<br>carol : 1/23/2007<br>wwang : 10/5/2005<br>terry : 9/19/2005<br>carol : 8/24/2005<br>carol : 5/3/2000<br>terry : 4/27/2000<br>jlewis : 7/26/1999<br>terry : 7/9/1999<br>davew : 7/28/1994<br>mimadm : 4/9/1994<br>carol : 11/22/1993<br>supermim : 3/16/1992<br>carol : 9/16/1991<br>carol : 8/20/1990
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<span class="mim-font">
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<strong>#</strong> 112310
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<h3>
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BOOMERANG DYSPLASIA; BOOMD
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<strong>SNOMEDCT:</strong> 254054000;
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<strong>ORPHA:</strong> 1263;
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<strong>DO:</strong> 0050680;
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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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<th>
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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3p14.3
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<span class="mim-font">
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Boomerang dysplasia
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<span class="mim-font">
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112310
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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FLNB
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<td>
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<span class="mim-font">
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603381
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that boomerang dysplasia (BOOMD) is caused by heterozygous mutation in the FLNB gene (603381) on chromosome 3p14.</p>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Boomerang dysplasia (BOOMD) is a perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae (summary by Bicknell et al., 2005). </p>
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<h4>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Kozlowski et al. (1981), Tenconi et al. (1983), and Kozlowski et al. (1985) each described 1 patient with a disorder termed boomerang dysplasia because of the unusual shape of the long bones of the legs. All 3 patients died in the neonatal period. They had dwarfism with short, bowed, rigid limbs and characteristic facies. In particular, the nose had a broad root and severe hypoplasia of the nares and septum. Radiographically, the radii and fibulae were absent, while the remaining long bones had the boomerang configuration. The iliac bodies were small and ossification in the lower spine and digits was retarded. All 3 patients were males, from Japan, Italy, and Australia. Winship et al. (1990) described a fourth patient, again a male infant. Shortened boomerang-shaped radii, femora, and tibias were noted. The vertebral borders showed coronal clefts. </p><p>Hunter and Carpenter (1991) described a patient with apparent manifestations of both type I atelosteogenesis (108720) and boomerang dysplasia and concluded that these disorders are 'part of a spectrum, probably reflecting a common etiology.' Greally et al. (1993) presented a case that supported the hypothesis of Hunter and Carpenter (1991). </p><p>Urioste et al. (1997) reported a possible case of boomerang dysplasia in the offspring of healthy, nonconsanguineous parents. Delivery was induced at 27 weeks of gestation. He was markedly disproportionate with a large head, very short and flipper-like limbs, numerous malformations, and generalized alopecia. Radiologic skeletal examination showed generalized underossification. The pubic bones were absent. Only one well-ossified and bowed bone was observed in the legs, which had the appearance of a boomerang. Histologic studies showed multinucleated giant chondrocytes in the cartilage. The karyotype was apparently normal. </p><p>Odent et al. (1999) reported a female fetus of 24 weeks' gestation with clinical and radiologic features compatible with boomerang dysplasia. Histopathology, however, showed unusual lateral fan-shaped diaphyseal ossification. Odent et al. (1999) concluded that these features represented a variant of boomerang dysplasia with clinical characteristics of both atelosteogenesis type I and boomerang dysplasia. </p><p>Wessels et al. (2003) reported a male fetus with boomerang dysplasia that was diagnosed by ultrasound at 16 weeks of gestation. Delivery was induced at 17 weeks of gestation; postdelivery examination revealed dwarfism and micromelia of the 4 limbs. In each limb only 1 of the 3 long tubular bones was ossified; the presumed radius had a boomerang shape and the presumed tibia had a segment shape. The hands and feet were very short and broad with severe brachydactyly. The ossification centers of all vertebrae except for T11-12 and L1-3 were absent. The thorax was small and bell-shaped with short ribs. The skull showed micrognathia. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>The heterozygous mutation in the FLNB gene that was identified in a fetus (case 1) with BOOMD by Bicknell et al. (2005) occurred de novo. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>In a 22-week male fetus reported by Krakow et al. (2004) and a 17-week male fetus described by Wessels et al. (2003), both diagnosed with boomerang dysplasia, Bicknell et al. (2005) identified heterozygosity for mutations in the FLNB gene, leu171 to arg (L171R; 603381.0009) and ser235 to pro (S235P; 603381.0010), respectively. </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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Beighton (1988)
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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<li>
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<p class="mim-text-font">
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Beighton, P.
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<strong>Inherited Disorders of the Skeleton. (2nd ed.)</strong>
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London: Churchill Livingstone (pub.) 1988. Pp. 99-100.
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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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Bicknell, L. S., Morgan, T., Bonafe, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., Robertson, S. P.
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<strong>Mutations in FLNB cause boomerang dysplasia.</strong>
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J. Med. Genet. 42: e43, 2005. Note: Electronic Article.
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[PubMed: 15994868]
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[Full Text: https://doi.org/10.1136/jmg.2004.029967]
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</li>
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<li>
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<p class="mim-text-font">
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Greally, M. T., Jewett, T., Smith, W. L., Jr., Penick, G. D., Williamson, R. A.
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<strong>Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia.</strong>
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Am. J. Med. Genet. 47: 1086-1091, 1993.
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[PubMed: 8291529]
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[Full Text: https://doi.org/10.1002/ajmg.1320470731]
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<li>
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<p class="mim-text-font">
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Hunter, A. G. W., Carpenter, B. F.
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<strong>Atelosteogenesis I and boomerang dysplasia: a question of nosology.</strong>
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Clin. Genet. 39: 471-480, 1991.
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[PubMed: 1863996]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03060.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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Kozlowski, K., Sillence, D., Cortis-Jones, R., Osborn, R.
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<strong>Boomerang dysplasia.</strong>
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Brit. J. Radiol. 58: 369-371, 1985.
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[PubMed: 4063680]
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[Full Text: https://doi.org/10.1259/0007-1285-58-688-369]
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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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Kozlowski, K., Tsuruta, T., Kameda, Y., Kan, A., Leslie, G.
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<strong>New forms of neonatal death dwarfism: report of 3 cases.</strong>
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Pediat. Radiol. 10: 155-160, 1981.
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[PubMed: 7194471]
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[Full Text: https://doi.org/10.1007/BF00975190]
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</li>
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<li>
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<p class="mim-text-font">
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Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others.
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<strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong>
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Nature Genet. 36: 405-410, 2004.
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[PubMed: 14991055]
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[Full Text: https://doi.org/10.1038/ng1319]
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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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Odent, S., Loget, P., Le Marec, B., Delezoide, A.-L., Maroteaux, P.
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<strong>Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.</strong>
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J. Med. Genet. 36: 330-332, 1999.
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[PubMed: 10227404]
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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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Tenconi, R., Kozlowski, K., Largaiolli, G.
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<strong>Boomerang dysplasia: a new form of neonatal death dwarfism.</strong>
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Fortschr. Geb. Roentgenstr. Nuklearmed. 138: 378-380, 1983.
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[PubMed: 6403439]
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</p>
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<p class="mim-text-font">
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Urioste, M., Rodriguez, J. I., Bofarull, J. M., Toran, N., Ferrer, C., Villa, A.
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<strong>Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia.</strong>
|
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Am. J. Med. Genet. 68: 342-346, 1997.
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[PubMed: 9024569]
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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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Wessels, M. W., Den Hollander, N. S., De Krijger, R. R., Bonife, L., Superti-Furga, A., Nikkels, P. G., Willems, P. J.
|
|
<strong>Prenatal diagnosis of boomerang dysplasia.</strong>
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Am. J. Med. Genet. 122A: 148-154, 2003.
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[PubMed: 12955767]
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[Full Text: https://doi.org/10.1002/ajmg.a.20239]
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<li>
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<p class="mim-text-font">
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Winship, I., Cremin, B., Beighton, P.
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<strong>Boomerang dysplasia.</strong>
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Am. J. Med. Genet. 36: 440-443, 1990.
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[PubMed: 2202214]
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[Full Text: https://doi.org/10.1002/ajmg.1320360413]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/19/2005<br>Marla J. F. O'Neill - updated : 8/24/2005<br>Wilson H. Y. Lo - updated : 4/27/2000<br>Michael J. Wright - updated : 7/9/1999
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<span class="mim-text-font">
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Victor A. McKusick : 12/9/1989
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