The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects
Identifieur interne : 003691 ( Istex/Corpus ); précédent : 003690; suivant : 003692The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects
Auteurs : Katie M. G. Snape ; Deborah Ruddy ; Martin Zenker ; Wim Wuyts ; Margo Whiteford ; Diana Johnson ; Wayne Lam ; Richard C. TrembathSource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2009-08.
Abstract
The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams–Oliver syndrome (AOS). The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams–Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders. © 2009 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.32708
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ISTEX:75132FA80B03FE2E7A1B24CB9DCC13B83BB4DB18Le document en format XML
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The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams–Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. 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M.G.</forename><surname>Snape</surname></persName><affiliation>Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, London, UK<address><country key="GB"></country></address></affiliation><note type="foot">Adams‐Oliver Syndrome European Consortium.</note></author><author xml:id="author-0001"><persName><forename type="first">Deborah</forename><surname>Ruddy</surname></persName><affiliation>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, Harrow, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Martin</forename><surname>Zenker</surname></persName><affiliation>Institute of Human Genetics, University Hospital Erlangen, Friedrich‐Alexander University Erlangen‐Nuremberg, Erlangen, Germany<address><country key="DE"></country></address></affiliation><note type="foot">Adams‐Oliver Syndrome European Consortium.</note></author><author xml:id="author-0003"><persName><forename type="first">Wim</forename><surname>Wuyts</surname></persName><affiliation>Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium<address><country key="BE"></country></address></affiliation><note type="foot">Adams‐Oliver Syndrome European Consortium.</note></author><author xml:id="author-0004"><persName><forename type="first">Margo</forename><surname>Whiteford</surname></persName><affiliation>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, Scotland, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Diana</forename><surname>Johnson</surname></persName><affiliation>Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK<address><country key="GB"></country></address></affiliation></author><author 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The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams–Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders. © 2009 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">aplasia cutis congenita</term><term xml:id="kwd2">limb defects</term><term xml:id="kwd3">Adams–Oliver syndrome</term><term xml:id="kwd4">review</term></keywords><classCode scheme="articleCategory">Research Review</classCode><classCode scheme="tocHeading1">Research Reviews</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/75132FA80B03FE2E7A1B24CB9DCC13B83BB4DB18/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1552-4833</doi><issn type="print">1552-4825</issn><issn type="electronic">1552-4833</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics Part A</title><title type="short">Am. 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href="#fn1"></link></title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" noteRef="#fn2"><personName><givenNames>Katie M.G.</givenNames><familyName>Snape</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Deborah</givenNames><familyName>Ruddy</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3" noteRef="#fn2"><personName><givenNames>Martin</givenNames><familyName>Zenker</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4" noteRef="#fn2"><personName><givenNames>Wim</givenNames><familyName>Wuyts</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Margo</givenNames><familyName>Whiteford</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Diana</givenNames><familyName>Johnson</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Wayne</givenNames><familyName>Lam</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1 #af8" corresponding="yes" noteRef="#fn2"><personName><givenNames>Richard C.</givenNames><familyName>Trembath</familyName></personName><contactDetails><email>richard.trembath@kcl.ac.uk</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, London, UK</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, Harrow, UK</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Institute of Human Genetics, University Hospital Erlangen, Friedrich‐Alexander University Erlangen‐Nuremberg, Erlangen, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="BE" type="organization"><unparsedAffiliation>Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="GB" type="organization"><unparsedAffiliation>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, Scotland, UK</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="GB" type="organization"><unparsedAffiliation>Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="GB" type="organization"><unparsedAffiliation>Department of Clinical Genetics, Western General Hospital, Edinburgh, UK</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="GB" type="organization"><unparsedAffiliation>Department of Medical and Molecular Genetics, King's College London, London, UK</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">aplasia cutis congenita</keyword><keyword xml:id="kwd2">limb defects</keyword><keyword xml:id="kwd3">Adams–Oliver syndrome</keyword><keyword xml:id="kwd4">review</keyword></keywordGroup><fundingInfo><fundingAgency>NIHR Guy's and St Thomas' Hospital NHS Foundation Trust/Kings College London Comprehensive Biomedical Research Centre</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams–Oliver syndrome (AOS). The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams–Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders. © 2009 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>How to cite this article: Snape KMG, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC. 2009. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet Part A 149A:1860–1881.</p></note><note xml:id="fn2"><p>Adams‐Oliver Syndrome European Consortium.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects</title></titleInfo><name type="personal"><namePart type="given">Katie M.G.</namePart><namePart type="family">Snape</namePart><affiliation>Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, London, UK</affiliation><description>Adams‐Oliver Syndrome European Consortium.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Deborah</namePart><namePart type="family">Ruddy</namePart><affiliation>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, Harrow, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Martin</namePart><namePart type="family">Zenker</namePart><affiliation>Institute of Human Genetics, University Hospital Erlangen, Friedrich‐Alexander University Erlangen‐Nuremberg, Erlangen, Germany</affiliation><description>Adams‐Oliver Syndrome European Consortium.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wim</namePart><namePart type="family">Wuyts</namePart><affiliation>Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium</affiliation><description>Adams‐Oliver Syndrome European Consortium.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Margo</namePart><namePart type="family">Whiteford</namePart><affiliation>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, Scotland, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Diana</namePart><namePart type="family">Johnson</namePart><affiliation>Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wayne</namePart><namePart type="family">Lam</namePart><affiliation>Department of Clinical Genetics, Western General Hospital, Edinburgh, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Richard C.</namePart><namePart type="family">Trembath</namePart><affiliation>Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, London, UK</affiliation><affiliation>Department of Medical and Molecular Genetics, King's College London, London, UK</affiliation><description>Adams‐Oliver Syndrome European Consortium.</description><affiliation>Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, Department of Medical and Molecular Genetics, 9th Floor, Tower Wing, Guys Hospital, London SE1 9RT, UK.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="review-article" displayLabel="reviewArticle"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2009-08</dateIssued><dateCaptured encoding="w3cdtf">2008-05-02</dateCaptured><dateValid encoding="w3cdtf">2008-12-11</dateValid><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">4</extent><extent unit="tables">4</extent><extent unit="references">100</extent><extent unit="words">12198</extent></physicalDescription><abstract lang="en">The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams–Oliver syndrome (AOS). The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams–Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders. © 2009 Wiley‐Liss, Inc.</abstract><note type="content">*How to cite this article: Snape KMG, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC. 2009. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet Part A 149A:1860–1881.</note><note type="funding">NIHR Guy's and St Thomas' Hospital NHS Foundation Trust/Kings College London Comprehensive Biomedical Research Centre</note><subject lang="en"><genre>keywords</genre><topic>aplasia cutis congenita</topic><topic>limb defects</topic><topic>Adams–Oliver syndrome</topic><topic>review</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. 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