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<meta name="keywords" content="C1832594, amelogenesis imperfecta and platyspondyly, autosomal recessive brachyolmia and amelogenesis imperfecta syndrome, brachyolmia and amelogenesis imperfecta syndrome, brachyolmia-amelogenesis imperfecta syndrome, dass, dental anomalies and short stature, disease or syndrome, ltbp3, platyspondyly amelogenesis imperfecta, platyspondyly with amelogenesis imperfecta, platyspondyly-amelogenesis imperfecta syndrome, selective tooth agenesis 5, skeletal dysplasia with amelogenesis imperfecta and platyspondyly, sthag6, sthag6, formerly, tooth agenesis, selective, 6, tooth agenesis, selective, 6, formerly, vbs, verloes bourguignon syndrome, verloes-bourguignon syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (Huckert et al., 2015). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (Dugan et al., 2015; Guo et al., 2018). Inter- and intrafamilial variability has been reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Brachyolmia-amelogenesis imperfecta syndrome (Concept Id: C1832594)
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<!--
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UID=318659
|
||
ConceptID=C1832594
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Brachyolmia-amelogenesis imperfecta syndrome<span class="h1sub">(DASS; STHAG6, FORMERLY; VBS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318659</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1832594</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Amelogenesis imperfecta and platyspondyly; Dental anomalies and short stature; PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA; Skeletal dysplasia with amelogenesis imperfecta and platyspondyly; Tooth agenesis, selective, 6; Verloes Bourguignon syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (716195006); Platyspondyly amelogenesis imperfecta (716195006); Verloes Bourguignon syndrome (716195006); Brachyolmia and amelogenesis imperfecta syndrome (716195006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="LTBP3 - ID: 4054 - NCBI Gene" href="/gene/4054" class="medgenPMinfo">LTBP3</a> (11q13.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011018" target="_blank">MONDO:0011018</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/601216" target="_blank">601216</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2899">ORPHA2899</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (Huckert et al., 2015). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (Dugan et al., 2015; Guo et al., 2018). Inter- and intrafamilial variability has been reported. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7671"><div><strong>Mitral valve prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7671</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7671">Feature record</a> | <a href="/medgen?term=%22Mitral%20valve%20prolapse%22%5BClinical%20Features%5D%20OR%207671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_240"><div><strong>Amelogenesis imperfecta</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>240</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0002452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental dysplasia of the dental enamel.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/240">Feature record</a> | <a href="/medgen?term=%22Amelogenesis%20imperfecta%22%5BClinical%20Features%5D%20OR%20240%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66804"><div><strong>Hypoplasia of the maxilla</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66804</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66804">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20maxilla%22%5BClinical%20Features%5D%20OR%2066804%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78101"><div><strong>Intervertebral space narrowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78101</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0263870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased height of the intervertebral disk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78101">Feature record</a> | <a href="/medgen?term=%22Intervertebral%20space%20narrowing%22%5BClinical%20Features%5D%20OR%2078101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108148"><div><strong>Delayed skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108148</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108148">Feature record</a> | <a href="/medgen?term=%22Delayed%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20108148%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_318661"><div><strong>Herniation of intervertebral nuclei</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318661</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of one or more herniated nucleus pulposus of intervertebral disk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318661">Feature record</a> | <a href="/medgen?term=%22Herniation%20of%20intervertebral%20nuclei%22%5BClinical%20Features%5D%20OR%20318661%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_318662"><div><strong>Narrow vertebral interpedicular distance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318662</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832598</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318662">Feature record</a> | <a href="/medgen?term=%22Narrow%20vertebral%20interpedicular%20distance%22%5BClinical%20Features%5D%20OR%20318662%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335010"><div><strong>Platyspondyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335010</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A flattened vertebral body shape with reduced distance between the vertebral endplates.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335010">Feature record</a> | <a href="/medgen?term=%22Platyspondyly%22%5BClinical%20Features%5D%20OR%20335010%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66008"><div><strong>Microdontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66008</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66008">Feature record</a> | <a href="/medgen?term=%22Microdontia%22%5BClinical%20Features%5D%20OR%2066008%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337093"><div><strong>Widely spaced teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337093</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased spaces (diastemata) between most of the teeth in the same dental arch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337093">Feature record</a> | <a href="/medgen?term=%22Widely%20spaced%20teeth%22%5BClinical%20Features%5D%20OR%20337093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_904670"><div><strong>Oligodontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4082304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The absence of six or more teeth from the normal series by a failure to develop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904670">Feature record</a> | <a href="/medgen?term=%22Oligodontia%22%5BClinical%20Features%5D%20OR%20904670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43787"><div><strong>Hypertrichosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43787</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrichosis is increased hair growth that is abnormal in quantity or location.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43787">Feature record</a> | <a href="/medgen?term=%22Hypertrichosis%22%5BClinical%20Features%5D%20OR%2043787%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microdontia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_904670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligodontia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Widely spaced teeth</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral valve prolapse</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrichosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_240" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amelogenesis imperfecta</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed skeletal maturation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Herniation of intervertebral nuclei</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the maxilla</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intervertebral space narrowing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow vertebral interpedicular distance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platyspondyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832594[DISCUI]&test_type=Clinical" ref="ncbi_uid=318659">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1832594[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=318659">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318659" target="_blank" href="/omim/601216">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=318659" ref="ncbi_uid=318659">V</a></span></span><span class="TLline">Brachyolmia-amelogenesis imperfecta syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/96584" ref="tree=MeSH" title="MedGen record for Brachyolmia">Brachyolmia</a></span><ul><li><span class="matched_ds">Brachyolmia-amelogenesis imperfecta syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=2625&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Brachyolmia-amelogenesis imperfecta syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31388190">The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss K,
|
||
Lazar HP,
|
||
Kurolap A,
|
||
Martinez AF,
|
||
Paperna T,
|
||
Cohen L,
|
||
Smeland MF,
|
||
Whalen S,
|
||
Heide S,
|
||
Keren B,
|
||
Terhal P,
|
||
Irving M,
|
||
Takaku M,
|
||
Roberts JD,
|
||
Petrovich RM,
|
||
Schrier Vergano SA,
|
||
Kenney A,
|
||
Hove H,
|
||
DeChene E,
|
||
Quinonez SC,
|
||
Colin E,
|
||
Ziegler A,
|
||
Rumple M,
|
||
Jain M,
|
||
Monteil D,
|
||
Roeder ER,
|
||
Nugent K,
|
||
van Haeringen A,
|
||
Gambello M,
|
||
Santani A,
|
||
Medne L,
|
||
Krock B,
|
||
Skraban CM,
|
||
Zackai EH,
|
||
Dubbs HA,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Parker MJ,
|
||
Wright M,
|
||
Turnpenny P,
|
||
Clayton-Smith J,
|
||
Metcalfe K,
|
||
Kurumizaka H,
|
||
Gelb BD,
|
||
Baris Feldman H,
|
||
Campeau PM,
|
||
Muenke M,
|
||
Wade PA,
|
||
Lachlan K</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Feb;22(2):389-397.
|
||
Epub 2019 Aug 7
|
||
doi: 10.1038/s41436-019-0612-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31388190" target="_blank">31388190</a><a href="/pmc/articles/PMC8900827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25821090">Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombi M,
|
||
Dordoni C,
|
||
Chiarelli N,
|
||
Ritelli M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Mar;169C(1):6-22.
|
||
doi: 10.1002/ajmg.c.31429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25821090" target="_blank">25821090</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4254881">Bone measurement in the differential diagnosis of osteopenia and osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garn SM,
|
||
Poznanski AK,
|
||
Nagy JM</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1971 Sep;100(3):509-18.
|
||
doi: 10.1148/100.3.509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4254881" target="_blank">4254881</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(brachyolmia-amelogenesis%20imperfecta%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (33)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34801143">Syndromic Hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varagur K,
|
||
Sanka SA,
|
||
Strahle JM</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
|
||
2022 Jan;33(1):67-79.
|
||
doi: 10.1016/j.nec.2021.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34801143" target="_blank">34801143</a><a href="/pmc/articles/PMC8985913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31940621">Chapter 6: Vitamins and Oral Health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutierrez Gossweiler A,
|
||
Martinez-Mier EA</span><br />
|
||
<span class="medgenPMjournal">Monogr Oral Sci</span>
|
||
2020;28:59-67.
|
||
Epub 2019 Nov 7
|
||
doi: 10.1159/000455372.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31940621" target="_blank">31940621</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31454537">Off-label uses of denosumab in metabolic bone diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polyzos SA,
|
||
Makras P,
|
||
Tournis S,
|
||
Anastasilakis AD</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2019 Dec;129:115048.
|
||
Epub 2019 Aug 24
|
||
doi: 10.1016/j.bone.2019.115048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31454537" target="_blank">31454537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19021896">Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barron MJ,
|
||
McDonnell ST,
|
||
Mackie I,
|
||
Dixon MJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Nov 20;3:31.
|
||
doi: 10.1186/1750-1172-3-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19021896" target="_blank">19021896</a><a href="/pmc/articles/PMC2600777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17408482">Amelogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crawford PJ,
|
||
Aldred M,
|
||
Bloch-Zupan A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Apr 4;2:17.
|
||
doi: 10.1186/1750-1172-2-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17408482" target="_blank">17408482</a><a href="/pmc/articles/PMC1853073" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachyolmia-amelogenesis%20imperfecta%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (205)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35279353">Osteogenesis Imperfecta-Like Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fitzgerald M,
|
||
Carswell KN,
|
||
Howell DM,
|
||
Kelly MN</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Health Care</span>
|
||
2022 Jul-Aug;36(4):376-380.
|
||
Epub 2022 Mar 9
|
||
doi: 10.1016/j.pedhc.2022.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35279353" target="_blank">35279353</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30692697">Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Li J,
|
||
Saucier JB,
|
||
Feng Y,
|
||
Jiang Y,
|
||
Sinson J,
|
||
McCombs AK,
|
||
Schmitt ES,
|
||
Peacock S,
|
||
Chen S,
|
||
Dai H,
|
||
Ge X,
|
||
Wang G,
|
||
Shaw CA,
|
||
Mei H,
|
||
Breman A,
|
||
Xia F,
|
||
Yang Y,
|
||
Purgason A,
|
||
Pourpak A,
|
||
Chen Z,
|
||
Wang X,
|
||
Wang Y,
|
||
Kulkarni S,
|
||
Choy KW,
|
||
Wapner RJ,
|
||
Van den Veyver IB,
|
||
Beaudet A,
|
||
Parmar S,
|
||
Wong LJ,
|
||
Eng CM</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2019 Mar;25(3):439-447.
|
||
Epub 2019 Jan 28
|
||
doi: 10.1038/s41591-018-0334-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30692697" target="_blank">30692697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24715559">Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Dijk FS,
|
||
Sillence DO</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jun;164A(6):1470-81.
|
||
Epub 2014 Apr 8
|
||
doi: 10.1002/ajmg.a.36545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24715559" target="_blank">24715559</a><a href="/pmc/articles/PMC4314691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19021896">Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barron MJ,
|
||
McDonnell ST,
|
||
Mackie I,
|
||
Dixon MJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Nov 20;3:31.
|
||
doi: 10.1186/1750-1172-3-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19021896" target="_blank">19021896</a><a href="/pmc/articles/PMC2600777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17408482">Amelogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crawford PJ,
|
||
Aldred M,
|
||
Bloch-Zupan A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Apr 4;2:17.
|
||
doi: 10.1186/1750-1172-2-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17408482" target="_blank">17408482</a><a href="/pmc/articles/PMC1853073" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachyolmia-amelogenesis%20imperfecta%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (402)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31454537">Off-label uses of denosumab in metabolic bone diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polyzos SA,
|
||
Makras P,
|
||
Tournis S,
|
||
Anastasilakis AD</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2019 Dec;129:115048.
|
||
Epub 2019 Aug 24
|
||
doi: 10.1016/j.bone.2019.115048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31454537" target="_blank">31454537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21073335">Regulation of bone mass by serotonin: molecular biology and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karsenty G,
|
||
Yadav VK</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2011;62:323-31.
|
||
doi: 10.1146/annurev-med-090710-133426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21073335" target="_blank">21073335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19762731">Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benca J,
|
||
Hogan K</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2009 Oct;109(4):1049-53.
|
||
doi: 10.1213/ane.0b013e3181adca28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19762731" target="_blank">19762731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8133980">Kohlschütter syndrome: syndrome of epilepsy--dementia--amelogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petermöller M,
|
||
Kunze J,
|
||
Gross-Selbeck G</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1993 Dec;24(6):337-8.
|
||
doi: 10.1055/s-2008-1071567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8133980" target="_blank">8133980</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/391719">Etiology and pathophysiology of malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denborough MA</span><br />
|
||
<span class="medgenPMjournal">Int Anesthesiol Clin</span>
|
||
1979 Winter;17(4):11-23.
|
||
doi: 10.1097/00004311-197917040-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/391719" target="_blank">391719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachyolmia-amelogenesis%20imperfecta%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (81)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30692697">Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Li J,
|
||
Saucier JB,
|
||
Feng Y,
|
||
Jiang Y,
|
||
Sinson J,
|
||
McCombs AK,
|
||
Schmitt ES,
|
||
Peacock S,
|
||
Chen S,
|
||
Dai H,
|
||
Ge X,
|
||
Wang G,
|
||
Shaw CA,
|
||
Mei H,
|
||
Breman A,
|
||
Xia F,
|
||
Yang Y,
|
||
Purgason A,
|
||
Pourpak A,
|
||
Chen Z,
|
||
Wang X,
|
||
Wang Y,
|
||
Kulkarni S,
|
||
Choy KW,
|
||
Wapner RJ,
|
||
Van den Veyver IB,
|
||
Beaudet A,
|
||
Parmar S,
|
||
Wong LJ,
|
||
Eng CM</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2019 Mar;25(3):439-447.
|
||
Epub 2019 Jan 28
|
||
doi: 10.1038/s41591-018-0334-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30692697" target="_blank">30692697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24715559">Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Dijk FS,
|
||
Sillence DO</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jun;164A(6):1470-81.
|
||
Epub 2014 Apr 8
|
||
doi: 10.1002/ajmg.a.36545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24715559" target="_blank">24715559</a><a href="/pmc/articles/PMC4314691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23579912">Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lingaraju N,
|
||
Nagarathna PJ,
|
||
Vijayalakshmi R,
|
||
Sheshadri P</span><br />
|
||
<span class="medgenPMjournal">J Contemp Dent Pract</span>
|
||
2013 Jan 1;14(1):140-2.
|
||
doi: 10.5005/jp-journals-10024-1288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23579912" target="_blank">23579912</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22522085">Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schossig A,
|
||
Wolf NI,
|
||
Kapferer I,
|
||
Kohlschütter A,
|
||
Zschocke J</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2012 May;55(5):319-22.
|
||
Epub 2012 Mar 28
|
||
doi: 10.1016/j.ejmg.2012.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22522085" target="_blank">22522085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8357021">Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zlotogora J,
|
||
Fuks A,
|
||
Borochowitz Z,
|
||
Tal Y</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1993 Jun 1;46(4):453-4.
|
||
doi: 10.1002/ajmg.1320460422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8357021" target="_blank">8357021</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachyolmia-amelogenesis%20imperfecta%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (112)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36896471">COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venable E,
|
||
Knight DRT,
|
||
Thoreson EK,
|
||
Baudhuin LM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2023 Jun;193(2):147-159.
|
||
Epub 2023 Mar 9
|
||
doi: 10.1002/ajmg.c.32038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36896471" target="_blank">36896471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31388190">The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss K,
|
||
Lazar HP,
|
||
Kurolap A,
|
||
Martinez AF,
|
||
Paperna T,
|
||
Cohen L,
|
||
Smeland MF,
|
||
Whalen S,
|
||
Heide S,
|
||
Keren B,
|
||
Terhal P,
|
||
Irving M,
|
||
Takaku M,
|
||
Roberts JD,
|
||
Petrovich RM,
|
||
Schrier Vergano SA,
|
||
Kenney A,
|
||
Hove H,
|
||
DeChene E,
|
||
Quinonez SC,
|
||
Colin E,
|
||
Ziegler A,
|
||
Rumple M,
|
||
Jain M,
|
||
Monteil D,
|
||
Roeder ER,
|
||
Nugent K,
|
||
van Haeringen A,
|
||
Gambello M,
|
||
Santani A,
|
||
Medne L,
|
||
Krock B,
|
||
Skraban CM,
|
||
Zackai EH,
|
||
Dubbs HA,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Parker MJ,
|
||
Wright M,
|
||
Turnpenny P,
|
||
Clayton-Smith J,
|
||
Metcalfe K,
|
||
Kurumizaka H,
|
||
Gelb BD,
|
||
Baris Feldman H,
|
||
Campeau PM,
|
||
Muenke M,
|
||
Wade PA,
|
||
Lachlan K</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Feb;22(2):389-397.
|
||
Epub 2019 Aug 7
|
||
doi: 10.1038/s41436-019-0612-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31388190" target="_blank">31388190</a><a href="/pmc/articles/PMC8900827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30692697">Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Li J,
|
||
Saucier JB,
|
||
Feng Y,
|
||
Jiang Y,
|
||
Sinson J,
|
||
McCombs AK,
|
||
Schmitt ES,
|
||
Peacock S,
|
||
Chen S,
|
||
Dai H,
|
||
Ge X,
|
||
Wang G,
|
||
Shaw CA,
|
||
Mei H,
|
||
Breman A,
|
||
Xia F,
|
||
Yang Y,
|
||
Purgason A,
|
||
Pourpak A,
|
||
Chen Z,
|
||
Wang X,
|
||
Wang Y,
|
||
Kulkarni S,
|
||
Choy KW,
|
||
Wapner RJ,
|
||
Van den Veyver IB,
|
||
Beaudet A,
|
||
Parmar S,
|
||
Wong LJ,
|
||
Eng CM</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2019 Mar;25(3):439-447.
|
||
Epub 2019 Jan 28
|
||
doi: 10.1038/s41591-018-0334-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30692697" target="_blank">30692697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19762731">Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benca J,
|
||
Hogan K</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2009 Oct;109(4):1049-53.
|
||
doi: 10.1213/ane.0b013e3181adca28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19762731" target="_blank">19762731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17408482">Amelogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crawford PJ,
|
||
Aldred M,
|
||
Bloch-Zupan A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Apr 4;2:17.
|
||
doi: 10.1186/1750-1172-2-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17408482" target="_blank">17408482</a><a href="/pmc/articles/PMC1853073" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachyolmia-amelogenesis%20imperfecta%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (156)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39806231">The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilani M,
|
||
Saikia A,
|
||
Anthonappa R</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Paediatr Dent</span>
|
||
2025 Feb;26(1):3-16.
|
||
Epub 2025 Jan 13
|
||
doi: 10.1007/s40368-024-00992-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39806231" target="_blank">39806231</a><a href="/pmc/articles/PMC11865110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37448157">Genotype-phenotype analysis of selective failure of tooth eruption-A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo X,
|
||
Duan X</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Sep;104(3):287-297.
|
||
Epub 2023 Jul 13
|
||
doi: 10.1111/cge.14400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37448157" target="_blank">37448157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35371003">Mesenchymal Stromal Cells for Enhancing Hematopoietic Engraftment and Treatment of Graft-Versus-Host Disease, Hemorrhages and Acute Respiratory Distress Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringdén O,
|
||
Moll G,
|
||
Gustafsson B,
|
||
Sadeghi B</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:839844.
|
||
Epub 2022 Mar 18
|
||
doi: 10.3389/fimmu.2022.839844.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35371003" target="_blank">35371003</a><a href="/pmc/articles/PMC8973075" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32147746">Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapferer-Seebacher I,
|
||
Schnabl D,
|
||
Zschocke J,
|
||
Pope FM</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2020 Mar 25;100(7):adv00092.
|
||
doi: 10.2340/00015555-3428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32147746" target="_blank">32147746</a><a href="/pmc/articles/PMC9128968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30705057">Features, genetics and their correlation in Jalili syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daneshmandpour Y,
|
||
Darvish H,
|
||
Pashazadeh F,
|
||
Emamalizadeh B</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2019 Jun;56(6):358-369.
|
||
Epub 2019 Jan 31
|
||
doi: 10.1136/jmedgenet-2018-105716.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30705057" target="_blank">30705057</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachyolmia-amelogenesis%20imperfecta%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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||
|
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<div class=" bottom">
|
||
|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1832594%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832594%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832594%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832594%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1832594%5bDISCUI%5d" target="_blank">See all (21)</a></total></li>
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||
</ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601216" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2899" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Brachyolmia-amelogenesis%20imperfecta%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(brachyolmia-amelogenesis%20imperfecta%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Brachyolmia-amelogenesis%20imperfecta%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602090" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4054[geneid]" target="_blank">View LTBP3 variations in ClinVar</a></li><li><a href="/nuccore/284813586" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=601216" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Verloes+Bourguignon+syndrome/7376" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/dental_anomalies_and_short_stature" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Brachyolmia-amelogenesis%20imperfecta%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5478/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<li>
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<a href="/pubmed/clinical?term=Brachyolmia-amelogenesis%20imperfecta%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Brachyolmia-amelogenesis%20imperfecta%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=318659" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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