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<meta name="keywords" content="C4225271, adams-oliver syndrome 6, adams-oliver syndrome caused by mutation in dll4, adams-oliver syndrome type 6, aos6, disease or syndrome, dll4, dll4 adams-oliver 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="Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=908556
|
||
ConceptID=C4225271
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Adams-Oliver syndrome 6<span class="h1sub">(AOS6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908556</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:">C4225271</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>AOS6</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="DLL4 - ID: 54567 - NCBI Gene" href="/gene/54567" class="medgenPMinfo">DLL4</a> (15q15.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014703" target="_blank">MONDO:0014703</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616589" target="_blank">616589</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">Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300). [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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||
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain.<br /><br />Some affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals.<br /><br />Abnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.<br /><br />Most people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area.<br /><br />Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome. <a target="_blank" href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome">https://medlineplus.gov/genetics/condition/adams-oliver-syndrome</a></div></div>
|
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</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_120571"><div><strong>Renal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120571</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.">C0266295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplasia of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120571">Feature record</a> | <a href="/medgen?term=%22Renal%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120571%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52619"><div><strong>Syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52619</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.">C0039075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52619">Feature record</a> | <a href="/medgen?term=%22Syndactyly%22%5BClinical%20Features%5D%20OR%2052619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</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.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_923973"><div><strong>Foot oligodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>923973</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.">C4281601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect resulting in the presence of fewer than the normal number of toes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/923973">Feature record</a> | <a href="/medgen?term=%22Foot%20oligodactyly%22%5BClinical%20Features%5D%20OR%20923973%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</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.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9375"><div><strong>Portal hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9375</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.">C0020541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased pressure in the portal vein.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9375">Feature record</a> | <a href="/medgen?term=%22Portal%20hypertension%22%5BClinical%20Features%5D%20OR%209375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11911"><div><strong>Tricuspid regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11911</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.">C0040961</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11911">Feature record</a> | <a href="/medgen?term=%22Tricuspid%20regurgitation%22%5BClinical%20Features%5D%20OR%2011911%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52867"><div><strong>Persistent truncus arteriosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52867</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.">C0041207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52867">Feature record</a> | <a href="/medgen?term=%22Persistent%20truncus%20arteriosus%22%5BClinical%20Features%5D%20OR%2052867%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5027"><div><strong>Esophageal varix</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5027</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.">C0014867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Extreme dilation of the submucusoal veins in the lower portion of the esophagus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5027">Feature record</a> | <a href="/medgen?term=%22Esophageal%20varix%22%5BClinical%20Features%5D%20OR%205027%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116093"><div><strong>Hepatic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116093</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.">C0239946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116093">Feature record</a> | <a href="/medgen?term=%22Hepatic%20fibrosis%22%5BClinical%20Features%5D%20OR%20116093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871299"><div><strong>Calvarial skull defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871299</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.">C4025787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871299">Feature record</a> | <a href="/medgen?term=%22Calvarial%20skull%20defect%22%5BClinical%20Features%5D%20OR%20871299%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78093"><div><strong>Cutis marmorata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78093</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.">C0263401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78093">Feature record</a> | <a href="/medgen?term=%22Cutis%20marmorata%22%5BClinical%20Features%5D%20OR%2078093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332409"><div><strong>Hypoplastic toenails</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332409</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.">C1837279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the toenail.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332409">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20toenails%22%5BClinical%20Features%5D%20OR%20332409%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343411"><div><strong>Aplasia cutis congenita of scalp</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343411</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.">C1855698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect resulting in the congenital absence of skin on the scalp.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343411">Feature record</a> | <a href="/medgen?term=%22Aplasia%20cutis%20congenita%20of%20scalp%22%5BClinical%20Features%5D%20OR%20343411%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_923973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Foot oligodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly</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_52867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent truncus arteriosus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal hypertension</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricuspid regurgitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5027" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal varix</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic fibrosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypoplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</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_343411" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia cutis congenita of scalp</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis marmorata</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic toenails</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_871299" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calvarial skull defect</a></span></li></ul></li></ul></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/24552406">Aplasia cutis congenita: approach to evaluation and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Browning JC</span><br />
|
||
<span class="medgenPMjournal">Dermatol Ther</span>
|
||
2013 Nov-Dec;26(6):439-44.
|
||
doi: 10.1111/dth.12106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24552406" target="_blank">24552406</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(adams-oliver%20syndrome%206)%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 (1)</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/33480066">The prognosis of common arterial trunk from a fetal perspective: A prenatal cohort study and systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Nisselrooij AEL,
|
||
Herling L,
|
||
Clur SA,
|
||
Linskens IH,
|
||
Pajkrt E,
|
||
Rammeloo LA,
|
||
Ten Harkel ADJ,
|
||
Hazekamp MG,
|
||
Blom NA,
|
||
Haak MC</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2021 May;41(6):754-765.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1002/pd.5907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33480066" target="_blank">33480066</a><a href="/pmc/articles/PMC8248090" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31147303">Ocular Manifestations of Cutis Marmorata Telangiectatica Congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dedania VS,
|
||
Moinuddin O,
|
||
Lagrou LM,
|
||
Sathrasala S,
|
||
Cord Medina FM,
|
||
Del Monte MA,
|
||
Chang EY,
|
||
Bohnsack BL,
|
||
Besirli CG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2019 Sep;3(9):791-801.
|
||
Epub 2019 May 1
|
||
doi: 10.1016/j.oret.2019.03.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31147303" target="_blank">31147303</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16532134">Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salih MA,
|
||
Murshid WR,
|
||
Al-Salman MM,
|
||
Abdel-Gader AG,
|
||
Al-Jarallah AA,
|
||
Alorainy IA,
|
||
Hassan HH,
|
||
Kentab AY,
|
||
Van Maldergem L,
|
||
Othman SA,
|
||
El-Desouki MI,
|
||
Elgamal EA</span><br />
|
||
<span class="medgenPMjournal">Saudi Med J</span>
|
||
2006 Mar;27 Suppl 1:S69-80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16532134" target="_blank">16532134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11711825">Surgical treatment of aplasia cutis in the Adams-Oliver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beekmans SJ,
|
||
Wiebe MJ</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2001 Nov;12(6):569-72.
|
||
doi: 10.1097/00001665-200111000-00014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11711825" target="_blank">11711825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9385961">Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pousti TJ,
|
||
Bartlett RA</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1997 Nov;100(6):1491-6.
|
||
doi: 10.1097/00006534-199711000-00018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9385961" target="_blank">9385961</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%20syndrome%206%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38866321">Adams-Oliver syndrome associated with refractory glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pillai MR,
|
||
Pabolu C,
|
||
R R,
|
||
Chaudhary S,
|
||
Sr K,
|
||
Puthuran GV</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2024 Aug;28(4):103950.
|
||
Epub 2024 Jun 10
|
||
doi: 10.1016/j.jaapos.2024.103950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38866321" target="_blank">38866321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33323896">PROLIFERATIVE RETINOPATHY IN A 13-YEAR-OLD WITH ADAMS-OLIVER SYNDROME.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyer BI,
|
||
Williams PJ,
|
||
Hanif AM,
|
||
Lenhart PD,
|
||
Hubbard GB 3rd,
|
||
Jain N</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2022 Nov 1;16(6):762-765.
|
||
doi: 10.1097/ICB.0000000000001073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33323896" target="_blank">33323896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29924900">Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meester JAN,
|
||
Sukalo M,
|
||
Schröder KC,
|
||
Schanze D,
|
||
Baynam G,
|
||
Borck G,
|
||
Bramswig NC,
|
||
Duman D,
|
||
Gilbert-Dussardier B,
|
||
Holder-Espinasse M,
|
||
Itin P,
|
||
Johnson DS,
|
||
Joss S,
|
||
Koillinen H,
|
||
McKenzie F,
|
||
Morton J,
|
||
Nelle H,
|
||
Reardon W,
|
||
Roll C,
|
||
Salih MA,
|
||
Savarirayan R,
|
||
Scurr I,
|
||
Splitt M,
|
||
Thompson E,
|
||
Titheradge H,
|
||
Travers CP,
|
||
Van Maldergem L,
|
||
Whiteford M,
|
||
Wieczorek D,
|
||
Vandeweyer G,
|
||
Trembath R,
|
||
Van Laer L,
|
||
Loeys BL,
|
||
Zenker M,
|
||
Southgate L,
|
||
Wuyts W</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2018 Sep;39(9):1246-1261.
|
||
Epub 2018 Jul 4
|
||
doi: 10.1002/humu.23567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29924900" target="_blank">29924900</a><a href="/pmc/articles/PMC6175364" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28572145">Visual Diagnosis: A Baby with a Scalp Lesion, Rash, and Left-Foot Deformity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lara DA,
|
||
Loar RW,
|
||
Allen HD</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2017 Jun;38(6):e20-e23.
|
||
doi: 10.1542/pir.2016-0078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28572145" target="_blank">28572145</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24552406">Aplasia cutis congenita: approach to evaluation and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Browning JC</span><br />
|
||
<span class="medgenPMjournal">Dermatol Ther</span>
|
||
2013 Nov-Dec;26(6):439-44.
|
||
doi: 10.1111/dth.12106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24552406" target="_blank">24552406</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%20syndrome%206%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 (17)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28598754">Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sezgin B,
|
||
Sibar S,
|
||
Findikcioglu K,
|
||
Sencan A,
|
||
Emmez H,
|
||
Baykaner K,
|
||
Ozmen S</span><br />
|
||
<span class="medgenPMjournal">J Wound Care</span>
|
||
2017 Jun 2;26(6):342-345.
|
||
doi: 10.12968/jowc.2017.26.6.342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28598754" target="_blank">28598754</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20560985">Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalina MA,
|
||
Kalina-Faska B,
|
||
Paprocka J,
|
||
Jamroz E,
|
||
Pyrkosz A,
|
||
Marszał E,
|
||
Małecka-Tendera E</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2010 Sep;78(3):227-35.
|
||
Epub 2010 May 22
|
||
doi: 10.1111/j.1399-0004.2010.01470.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20560985" target="_blank">20560985</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%20syndrome%206%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36059114">Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lukas ML,
|
||
Harald G,
|
||
Sanz J,
|
||
Trippel M,
|
||
Sabina G,
|
||
Jochen R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Nov;188(11):3318-3323.
|
||
Epub 2022 Sep 4
|
||
doi: 10.1002/ajmg.a.62961.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36059114" target="_blank">36059114</a><a href="/pmc/articles/PMC9826191" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33480066">The prognosis of common arterial trunk from a fetal perspective: A prenatal cohort study and systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Nisselrooij AEL,
|
||
Herling L,
|
||
Clur SA,
|
||
Linskens IH,
|
||
Pajkrt E,
|
||
Rammeloo LA,
|
||
Ten Harkel ADJ,
|
||
Hazekamp MG,
|
||
Blom NA,
|
||
Haak MC</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2021 May;41(6):754-765.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1002/pd.5907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33480066" target="_blank">33480066</a><a href="/pmc/articles/PMC8248090" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25824905">DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sukalo M,
|
||
Tilsen F,
|
||
Kayserili H,
|
||
Müller D,
|
||
Tüysüz B,
|
||
Ruddy DM,
|
||
Wakeling E,
|
||
Ørstavik KH,
|
||
Snape KM,
|
||
Trembath R,
|
||
De Smedt M,
|
||
van der Aa N,
|
||
Skalej M,
|
||
Mundlos S,
|
||
Wuyts W,
|
||
Southgate L,
|
||
Zenker M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Jun;36(6):593-8.
|
||
Epub 2015 Apr 21
|
||
doi: 10.1002/humu.22795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25824905" target="_blank">25824905</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18035989">Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dadzie OE,
|
||
Tyszczuk L,
|
||
Holder SE,
|
||
Teixeira F,
|
||
Charakida A,
|
||
Scarisbrick J,
|
||
Chu A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2007 Nov-Dec;24(6):651-3.
|
||
doi: 10.1111/j.1525-1470.2007.00556.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18035989" target="_blank">18035989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9385961">Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pousti TJ,
|
||
Bartlett RA</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1997 Nov;100(6):1491-6.
|
||
doi: 10.1097/00006534-199711000-00018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9385961" target="_blank">9385961</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%20syndrome%206%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38884729">Human Genetics of Ventricular Septal Defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perrot A,
|
||
Rickert-Sperling S</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2024;1441:505-534.
|
||
doi: 10.1007/978-3-031-44087-8_27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38884729" target="_blank">38884729</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33323896">PROLIFERATIVE RETINOPATHY IN A 13-YEAR-OLD WITH ADAMS-OLIVER SYNDROME.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyer BI,
|
||
Williams PJ,
|
||
Hanif AM,
|
||
Lenhart PD,
|
||
Hubbard GB 3rd,
|
||
Jain N</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2022 Nov 1;16(6):762-765.
|
||
doi: 10.1097/ICB.0000000000001073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33323896" target="_blank">33323896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32129674">Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams-Oliver Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang S,
|
||
Yang L,
|
||
Zhao L,
|
||
Xu R,
|
||
Wu Y</span><br />
|
||
<span class="medgenPMjournal">DNA Cell Biol</span>
|
||
2020 May;39(5):783-789.
|
||
Epub 2020 Mar 4
|
||
doi: 10.1089/dna.2019.5200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32129674" target="_blank">32129674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25824905">DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sukalo M,
|
||
Tilsen F,
|
||
Kayserili H,
|
||
Müller D,
|
||
Tüysüz B,
|
||
Ruddy DM,
|
||
Wakeling E,
|
||
Ørstavik KH,
|
||
Snape KM,
|
||
Trembath R,
|
||
De Smedt M,
|
||
van der Aa N,
|
||
Skalej M,
|
||
Mundlos S,
|
||
Wuyts W,
|
||
Southgate L,
|
||
Zenker M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Jun;36(6):593-8.
|
||
Epub 2015 Apr 21
|
||
doi: 10.1002/humu.22795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25824905" target="_blank">25824905</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12774039">Clinical and molecular analysis of nine families with Adams-Oliver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verdyck P,
|
||
Holder-Espinasse M,
|
||
Hul WV,
|
||
Wuyts W</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2003 Jun;11(6):457-63.
|
||
doi: 10.1038/sj.ejhg.5200980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12774039" target="_blank">12774039</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%20syndrome%206%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 (6)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/33480066">The prognosis of common arterial trunk from a fetal perspective: A prenatal cohort study and systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Nisselrooij AEL,
|
||
Herling L,
|
||
Clur SA,
|
||
Linskens IH,
|
||
Pajkrt E,
|
||
Rammeloo LA,
|
||
Ten Harkel ADJ,
|
||
Hazekamp MG,
|
||
Blom NA,
|
||
Haak MC</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2021 May;41(6):754-765.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1002/pd.5907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33480066" target="_blank">33480066</a><a href="/pmc/articles/PMC8248090" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%20syndrome%206%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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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_content ln"><ul id="my-toc"></ul></div>
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225271%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225271%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225271%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225271%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></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=616589" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Adams-Oliver%20syndrome%206" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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