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<meta name="keywords" content="C0265268, adams oliver syndrome, adams-oliver syndrome, aos, congenital absence of skin on scalp with limb-reduction anomaly, congenital scalp defects with distal limb anomalies, congenital scalp defects with distal limb reduction anomalies, disease or syndrome, limb scalp and skull defects, limb, scalp and skull defects, type 2 aplasia cutis, 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 (AOS) 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 recurrently seen. 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). Genetic Heterogeneity of Adams-Oliver Syndrome Other autosomal dominant forms of Adams-Oliver syndrome include AOS3 (614814), caused by mutation in the RBPJ gene (147183) on chromosome 4p15; AOS5 (616028), caused by mutation in the NOTCH1 gene (190198) on chromosome 9q34; and AOS6 (616589), caused by mutation in the DLL4 gene (605185) on chromosome 15q15.1. Autosomal recessive forms of Adams-Oliver syndrome include AOS2 (614219), caused by mutation in the DOCK6 gene (614194) on chromosome 19p13, and AOS4 (615297), caused by mutation in the EOGT gene (614789) on chromosome 3p14." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=78544
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||
ConceptID=C0265268
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Adams-Oliver syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78544</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:">C0265268</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>Adams Oliver syndrome; AOS; Congenital absence of skin on scalp with limb-reduction anomaly; Congenital scalp defects with distal limb anomalies; congenital scalp defects with distal limb anomalies; congenital scalp defects with distal limb reduction anomalies; Congenital scalp defects with distal limb reduction anomalies; limb scalp and skull defects; Limb, scalp and skull defects; limb, scalp and skull defects; Type 2 aplasia cutis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Type 2 aplasia cutis (34748004); Congenital absence of skin on scalp with limb-reduction anomaly (34748004); Adams-Oliver syndrome (34748004)</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="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
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<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/285203">EOGT</a>, <a target="_blank" href="/gene/57572">DOCK6</a>, <a target="_blank" href="/gene/57514">ARHGAP31</a>, <a target="_blank" href="/gene/3516">RBPJ</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007034" target="_blank">MONDO:0007034</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS100300" target="_blank">PS100300</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=974">ORPHA974</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 (AOS) 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 recurrently seen. 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). Genetic Heterogeneity of Adams-Oliver Syndrome Other autosomal dominant forms of Adams-Oliver syndrome include AOS3 (614814), caused by mutation in the RBPJ gene (147183) on chromosome 4p15; AOS5 (616028), caused by mutation in the NOTCH1 gene (190198) on chromosome 9q34; and AOS6 (616589), caused by mutation in the DLL4 gene (605185) on chromosome 15q15.1. Autosomal recessive forms of Adams-Oliver syndrome include AOS2 (614219), caused by mutation in the DOCK6 gene (614194) on chromosome 19p13, and AOS4 (615297), caused by mutation in the EOGT gene (614789) on chromosome 3p14. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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 />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.<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 />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 />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 />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. <a target="_blank" href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome">https://medlineplus.gov/genetics/condition/adams-oliver-syndrome</a></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=C0265268[DISCUI]&test_type=Clinical" ref="ncbi_uid=78544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=78544" ref="ncbi_uid=78544">V</a></span></span><span class="TLline">Adams-Oliver syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551482[DISCUI]&test_type=Clinical" ref="ncbi_uid=1635567">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1635567" target="_blank" href="/omim/100300">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=1635567" ref="ncbi_uid=1635567">V</a></span></span><span class="TLline"><a href="/medgen/1635567" ref="tree=GTR&ncbi_uid=1635567&link_uid=1635567" title="View MedGen record for 'Adams-Oliver syndrome 1'">Adams-Oliver syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280182[DISCUI]&test_type=Clinical" ref="ncbi_uid=481812">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481812" target="_blank" href="/omim/614194">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=481812" ref="ncbi_uid=481812">V</a></span></span><span class="TLline"><a href="/medgen/481812" ref="tree=GTR&ncbi_uid=481812&link_uid=481812" title="View MedGen record for 'Adams-Oliver syndrome 2'">Adams-Oliver syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553748[DISCUI]&test_type=Clinical" ref="ncbi_uid=766662">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766662" target="_blank" href="/omim/147183">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=766662" ref="ncbi_uid=766662">V</a></span></span><span class="TLline"><a href="/medgen/766662" ref="tree=GTR&ncbi_uid=766662&link_uid=766662" title="View MedGen record for 'Adams-Oliver syndrome 3'">Adams-Oliver syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809092[DISCUI]&test_type=Clinical" ref="ncbi_uid=815422">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815422" target="_blank" href="/omim/614789">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=815422" ref="ncbi_uid=815422">V</a></span></span><span class="TLline"><a href="/medgen/815422" ref="tree=GTR&ncbi_uid=815422&link_uid=815422" title="View MedGen record for 'Adams-Oliver syndrome 4'">Adams-Oliver syndrome 4</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842358" ref="tree=MeSH" title="MedGen record for Cranial malformation">Cranial malformation</a></span><ul><li><span class="matched_ds">Adams-Oliver syndrome</span><ul><li><span class="TLline"><a href="/medgen/1635567" ref="tree=MeSH" title="MedGen record for Adams-Oliver syndrome 1">Adams-Oliver syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481812" ref="tree=MeSH" title="MedGen record for Adams-Oliver syndrome 2">Adams-Oliver syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/766662" ref="tree=MeSH" title="MedGen record for Adams-Oliver syndrome 3">Adams-Oliver syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/815422" ref="tree=MeSH" title="MedGen record for Adams-Oliver syndrome 4">Adams-Oliver syndrome 4</a></span></li></ul></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=1294&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Adams-Oliver 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/31654484">Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dudoignon B,
|
||
Huber C,
|
||
Michot C,
|
||
Di Rocco F,
|
||
Girard M,
|
||
Lyonnet S,
|
||
Rio M,
|
||
Rabia SH,
|
||
Daire VC,
|
||
Baujat G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Jan;182(1):29-37.
|
||
Epub 2019 Oct 25
|
||
doi: 10.1002/ajmg.a.61364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31654484" target="_blank">31654484</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%22%5Btiab%3A~0%5D)%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 (2)</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/38778082">Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stanley KJ,
|
||
Kalbfleisch KJ,
|
||
Moran OM,
|
||
Chaturvedi RR,
|
||
Roifman M,
|
||
Chen X,
|
||
Manshaei R,
|
||
Martin N,
|
||
McDermott S,
|
||
McNiven V,
|
||
Myles-Reid D,
|
||
Nield LE,
|
||
Reuter MS,
|
||
Schwartz MLB,
|
||
Shannon P,
|
||
Silver R,
|
||
Somerville C,
|
||
Teitelbaum R,
|
||
Zahavich L,
|
||
Bassett AS,
|
||
Kim RH,
|
||
Mital S,
|
||
Chitayat D,
|
||
Jobling RK</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Jul;32(7):795-803.
|
||
Epub 2024 May 22
|
||
doi: 10.1038/s41431-024-01629-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38778082" target="_blank">38778082</a><a href="/pmc/articles/PMC11219983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26278182">Intracellular and extracellular O-linked N-acetylglucosamine in the nervous system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogawa M,
|
||
Sawaguchi S,
|
||
Kamemura K,
|
||
Okajima T</span><br />
|
||
<span class="medgenPMjournal">Exp Neurol</span>
|
||
2015 Dec;274(Pt B):166-74.
|
||
Epub 2015 Aug 14
|
||
doi: 10.1016/j.expneurol.2015.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26278182" target="_blank">26278182</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24515817">Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenz L,
|
||
Sönnichsen K,
|
||
Müller-Hansen I,
|
||
Poets C</span><br />
|
||
<span class="medgenPMjournal">Klin Padiatr</span>
|
||
2014 Jul;226(4):250-1.
|
||
Epub 2014 Feb 10
|
||
doi: 10.1055/s-0033-1364029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24515817" target="_blank">24515817</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 class="nl"><a target="_blank" href="/pubmed/1951437">Adams-Oliver syndrome revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitley CB,
|
||
Gorlin RJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1991 Sep 1;40(3):319-26.
|
||
doi: 10.1002/ajmg.1320400315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1951437" target="_blank">1951437</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%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 (29)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29948730">Adams-Oliver Syndrome: Limited Expression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasinathan A,
|
||
Sharawat IK,
|
||
Das G,
|
||
Sankhyan N</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2019 Jan;86(1):101-102.
|
||
Epub 2018 Jun 9
|
||
doi: 10.1007/s12098-018-2720-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29948730" target="_blank">29948730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30201155">Dermatoscopy of Common Lesions in Pediatric Dermatology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Micali G,
|
||
Verzì AE,
|
||
Quattrocchi E,
|
||
Ng CY,
|
||
Lacarrubba F</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2018 Oct;36(4):463-472.
|
||
Epub 2018 Aug 16
|
||
doi: 10.1016/j.det.2018.05.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30201155" target="_blank">30201155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24697559">Adams-Oliver syndrome in a newborn infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zakanj Z,
|
||
Bedek D,
|
||
Kotrulja L,
|
||
Ozanic Bulic S</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2016 Feb;55(2):215-7.
|
||
Epub 2014 Apr 2
|
||
doi: 10.1111/ijd.12469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24697559" target="_blank">24697559</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26244971">Adams Oliver Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Madan A,
|
||
Sardana K,
|
||
Garg VK</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2015 Jul;52(7):633-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26244971" target="_blank">26244971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23419759">Developmental anomalies of the skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bellet JS</span><br />
|
||
<span class="medgenPMjournal">Semin Perinatol</span>
|
||
2013 Feb;37(1):20-5.
|
||
doi: 10.1053/j.semperi.2012.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23419759" target="_blank">23419759</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%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 (75)</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 class="nl"><a target="_blank" href="/pubmed/12140410">Complete osseous regeneration of a large skull defect in a patient with cutis aplasia: a conservative approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rhee ST,
|
||
Colville C,
|
||
Buchman SR,
|
||
Muraszko K</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2002 Jul;13(4):497-500.
|
||
doi: 10.1097/00001665-200207000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12140410" target="_blank">12140410</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24515817">Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenz L,
|
||
Sönnichsen K,
|
||
Müller-Hansen I,
|
||
Poets C</span><br />
|
||
<span class="medgenPMjournal">Klin Padiatr</span>
|
||
2014 Jul;226(4):250-1.
|
||
Epub 2014 Feb 10
|
||
doi: 10.1055/s-0033-1364029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24515817" target="_blank">24515817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21785343">Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vandersteen AM,
|
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Dixon JW</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2011 Oct;20(4):210-213.
|
||
doi: 10.1097/MCD.0b013e32834964d1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21785343" target="_blank">21785343</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,
|
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Scarisbrick J,
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Chu A</span><br />
|
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<span class="medgenPMjournal">Pediatr Dermatol</span>
|
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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 class="nl"><a target="_blank" href="/pubmed/1951437">Adams-Oliver syndrome revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitley CB,
|
||
Gorlin RJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1991 Sep 1;40(3):319-26.
|
||
doi: 10.1002/ajmg.1320400315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1951437" target="_blank">1951437</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%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 (29)</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/33858352">Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suarez E,
|
||
Bertoli MJ,
|
||
Eloy JD,
|
||
Shah SP</span><br />
|
||
<span class="medgenPMjournal">BMC Anesthesiol</span>
|
||
2021 Apr 15;21(1):117.
|
||
doi: 10.1186/s12871-021-01339-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33858352" target="_blank">33858352</a><a href="/pmc/articles/PMC8048247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26394720">Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dand N,
|
||
Schulz R,
|
||
Weale ME,
|
||
Southgate L,
|
||
Oakey RJ,
|
||
Simpson MA,
|
||
Schlitt T</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Dec;36(12):1135-44.
|
||
Epub 2015 Oct 7
|
||
doi: 10.1002/humu.22906.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26394720" target="_blank">26394720</a><a href="/pmc/articles/PMC4982032" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25132448">Mutations in NOTCH1 cause Adams-Oliver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stittrich AB,
|
||
Lehman A,
|
||
Bodian DL,
|
||
Ashworth J,
|
||
Zong Z,
|
||
Li H,
|
||
Lam P,
|
||
Khromykh A,
|
||
Iyer RK,
|
||
Vockley JG,
|
||
Baveja R,
|
||
Silva ES,
|
||
Dixon J,
|
||
Leon EL,
|
||
Solomon BD,
|
||
Glusman G,
|
||
Niederhuber JE,
|
||
Roach JC,
|
||
Patel MS</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2014 Sep 4;95(3):275-84.
|
||
Epub 2014 Aug 14
|
||
doi: 10.1016/j.ajhg.2014.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25132448" target="_blank">25132448</a><a href="/pmc/articles/PMC4157158" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adams-Oliver%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 (29)</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>
|
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<div class="portlet_content ln">
|
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<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%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>
|
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</div>
|
||
</div></div></div></div></div></div></div>
|
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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_content ln"><ul><li><a href="/gtr/tests?term=C0265268%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265268%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265268%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265268%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
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||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0265268%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS100300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=974" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Adams-Oliver%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</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=(%22adams-oliver%20syndrome%22%5Btiab%3A~0%5D)%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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/adams_oliver_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Adams-Oliver%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5739/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<ul>
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<li>
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<a href="/pubmed/clinical?term=Adams-Oliver%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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<a href="/pubmed?term=Adams-Oliver%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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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=78544" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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||
</li>
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0265268[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0265268[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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</li>
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<li class="brieflinkpopper">
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