Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome
Identifieur interne : 005B54 ( Istex/Corpus ); précédent : 005B53; suivant : 005B55Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome
Auteurs : M. A. M. Van Steensel ; M. Van Geel ; C. Schrander-Stumpel ; P. M. Steijlen ; J. C. J. M. VeraartSource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2007-10-15.
Abstract
We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema. © 2007 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.31949
Links to Exploration step
ISTEX:C2DF068F67AA474E0E094CC7E59989822B1651F8Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome</title><author><name sortKey="Van Steensel, M A M" sort="Van Steensel, M A M" uniqKey="Van Steensel M" first="M. A. M." last="Van Steensel">M. A. M. Van Steensel</name><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.</mods:affiliation></affiliation></author><author><name sortKey="Van Geel, M" sort="Van Geel, M" uniqKey="Van Geel M" first="M." last="Van Geel">M. Van Geel</name><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Schrander Tumpel, C" sort="Schrander Tumpel, C" uniqKey="Schrander Tumpel C" first="C." last="Schrander-Stumpel">C. Schrander-Stumpel</name><affiliation><mods:affiliation>Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P. M." last="Steijlen">P. M. Steijlen</name><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Veraart, J C J M" sort="Veraart, J C J M" uniqKey="Veraart J" first="J. C. J. M." last="Veraart">J. C. J. M. Veraart</name><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:C2DF068F67AA474E0E094CC7E59989822B1651F8</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/ajmg.a.31949</idno><idno type="url">https://api.istex.fr/document/C2DF068F67AA474E0E094CC7E59989822B1651F8/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">005B54</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005B54</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome<ref type="note" target="#fn1"></ref></title><author><name sortKey="Van Steensel, M A M" sort="Van Steensel, M A M" uniqKey="Van Steensel M" first="M. A. M." last="Van Steensel">M. A. M. Van Steensel</name><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.</mods:affiliation></affiliation></author><author><name sortKey="Van Geel, M" sort="Van Geel, M" uniqKey="Van Geel M" first="M." last="Van Geel">M. Van Geel</name><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Schrander Tumpel, C" sort="Schrander Tumpel, C" uniqKey="Schrander Tumpel C" first="C." last="Schrander-Stumpel">C. Schrander-Stumpel</name><affiliation><mods:affiliation>Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P. M." last="Steijlen">P. M. Steijlen</name><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Veraart, J C J M" sort="Veraart, J C J M" uniqKey="Veraart J" first="J. C. J. M." last="Veraart">J. C. J. M. Veraart</name><affiliation><mods:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">143A</biblScope><biblScope unit="issue">20</biblScope><biblScope unit="page" from="2448">2448</biblScope><biblScope unit="page" to="2451">2451</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-10-15">2007-10-15</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema. © 2007 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>lymphedema</json:string><json:string>septal</json:string><json:string>maastricht</json:string><json:string>mutation</json:string><json:string>genet</json:string><json:string>abnormality</json:string><json:string>lower legs</json:string><json:string>syndrome</json:string><json:string>foxc2</json:string><json:string>atrial</json:string><json:string>genetics</json:string><json:string>steensel</json:string><json:string>bianchi</json:string><json:string>university hospital maastricht</json:string><json:string>fetal</json:string><json:string>hydrops</json:string><json:string>noonan</json:string><json:string>hennekam</json:string><json:string>congenital lymphedema</json:string><json:string>medical genetics part</json:string><json:string>recessive</json:string><json:string>cardiac septal defects</json:string><json:string>facies</json:string><json:string>cardiac</json:string><json:string>american journal</json:string><json:string>fetal hydrops</json:string><json:string>dutch girl</json:string><json:string>mental retardation</json:string><json:string>defect</json:string><json:string>characteristic facies</json:string><json:string>noonan syndrome</json:string><json:string>epicanthal folds</json:string><json:string>netherlands organization</json:string><json:string>barrier therapeutics</json:string><json:string>foxc2 genes</json:string><json:string>inguinal glands</json:string><json:string>vascular ring</json:string><json:string>congenital</json:string></teeft></keywords><author><json:item><name>M.A.M. van Steensel</name><affiliations><json:string>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</json:string><json:string>GROW research school, University of Maastricht, Maastricht, The Netherlands</json:string><json:string>Department of Dermatology, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.</json:string></affiliations></json:item><json:item><name>M. van Geel</name><affiliations><json:string>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</json:string><json:string>GROW research school, University of Maastricht, Maastricht, The Netherlands</json:string></affiliations></json:item><json:item><name>C. Schrander‐Stumpel</name><affiliations><json:string>Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands</json:string><json:string>GROW research school, University of Maastricht, Maastricht, The Netherlands</json:string></affiliations></json:item><json:item><name>P.M. Steijlen</name><affiliations><json:string>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</json:string><json:string>GROW research school, University of Maastricht, Maastricht, The Netherlands</json:string></affiliations></json:item><json:item><name>J.C.J.M. Veraart</name><affiliations><json:string>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</json:string><json:string>GROW research school, University of Maastricht, Maastricht, The Netherlands</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>lymphedema</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>heart</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>septal defect</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>fetal hydrops</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Irons–Bianchi syndrome</value></json:item></subject><articleId><json:string>AJMG31949</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>caseStudy</json:string></originalGenre><abstract>We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema. © 2007 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>2.409</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>570</abstractCharCount><pdfWordCount>1413</pdfWordCount><pdfCharCount>9294</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>83</abstractWordCount></qualityIndicators><title>Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome</title><genre><json:string>case-report</json:string></genre><host><title>American Journal of Medical Genetics Part A</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1552-4833</json:string></doi><issn><json:string>1552-4825</json:string></issn><eissn><json:string>1552-4833</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>143A</volume><issue>20</issue><pages><first>2448</first><last>2451</last><total>4</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Clinical Report</value></json:item></subject></host><categories><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string><json:string>genetique medicale</json:string></inist></categories><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/ajmg.a.31949</json:string></doi><id>C2DF068F67AA474E0E094CC7E59989822B1651F8</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/C2DF068F67AA474E0E094CC7E59989822B1651F8/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/C2DF068F67AA474E0E094CC7E59989822B1651F8/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/C2DF068F67AA474E0E094CC7E59989822B1651F8/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome<ref type="note" target="#fn1"></ref></title></titleStmt><publicationStmt><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><licence>Copyright © 2007 Wiley‐Liss, Inc.</licence></availability><date type="published" when="2007-10-15"></date></publicationStmt><notesStmt><note type="content-type" subtype="case-report" source="caseStudy" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-29919SZJ-6">case-report</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="case-report"><analytic><title level="a" type="main" xml:lang="en">Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome<ref type="note" target="#fn1"></ref></title><title level="a" type="short" xml:lang="en">CONFIRMATION OF IRONS SYNDROME</title><author xml:id="author-0000" role="corresp"><persName><forename type="first">M.A.M.</forename><surname>van Steensel</surname></persName><email>mvst@sder.azm.nl</email><affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Department of Dermatology, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">M.</forename><surname>van Geel</surname></persName><affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">C.</forename><surname>Schrander‐Stumpel</surname></persName><affiliation>Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">P.M.</forename><surname>Steijlen</surname></persName><affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">J.C.J.M.</forename><surname>Veraart</surname></persName><affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands<address><country key="NL"></country></address></affiliation></author><idno type="istex">C2DF068F67AA474E0E094CC7E59989822B1651F8</idno><idno type="DOI">10.1002/ajmg.a.31949</idno><idno type="unit">AJMG31949</idno><idno type="toTypesetVersion">file:AJMG.AJMG31949.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><idno type="book-DOI">10.1002/(ISSN)1552-4833</idno><idno type="book-part-DOI">10.1002/ajmg.a.v143a:20</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">143A</biblScope><biblScope unit="issue">20</biblScope><biblScope unit="page" from="2448">2448</biblScope><biblScope unit="page" to="2451">2451</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-10-15"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema. © 2007 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">lymphedema</term><term xml:id="kwd2">heart</term><term xml:id="kwd3">septal defect</term><term xml:id="kwd4">fetal hydrops</term><term xml:id="kwd5">Irons–Bianchi syndrome</term></keywords><classCode scheme="articleCategory">Clinical Report</classCode><classCode scheme="tocHeading1">Clinical Reports</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/C2DF068F67AA474E0E094CC7E59989822B1651F8/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. J. Med. Genet.</title></titleGroup><selfCitationGroup><citation type="ancestor" xml:id="cit1"><journalTitle>American Journal of Medical Genetics</journalTitle><accessionId ref="info:x-wiley/issn/01487299">0148-7299</accessionId><accessionId ref="info:x-wiley/issn/10968628">1096-8628</accessionId><pubYear year="2004">2004</pubYear></citation></selfCitationGroup></publicationMeta><publicationMeta level="part" position="200"><doi origin="wiley" registered="yes">10.1002/ajmg.a.v143a:20</doi><numberingGroup><numbering type="journalVolume" number="143">143A</numbering><numbering type="journalIssue">20</numbering></numberingGroup><coverDate startDate="2007-10-15">15 October 2007</coverDate></publicationMeta><publicationMeta level="unit" type="caseStudy" position="120" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.a.31949</doi><idGroup><id type="unit" value="AJMG31949"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Clinical Report</title><title type="tocHeading1">Clinical Reports</title></titleGroup><copyright ownership="publisher">Copyright © 2007 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2007-04-16"></event><event type="manuscriptAccepted" date="2007-06-20"></event><event type="publishedOnlineEarlyUnpaginated" date="2007-09-12"></event><event type="firstOnline" date="2007-09-12"></event><event type="publishedOnlineFinalForm" date="2007-09-25"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:FullText result:FullText" date="2010-05-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">2448</numbering><numbering type="pageLast">2451</numbering></numberingGroup><correspondenceTo>Department of Dermatology, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG31949.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="8"></count><count type="wordTotal" number="1596"></count></countGroup><titleGroup><title type="main" xml:lang="en">Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome<link href="#fn1"></link></title><title type="short" xml:lang="en">CONFIRMATION OF IRONS SYNDROME</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af3" corresponding="yes"><personName><givenNames>M.A.M.</givenNames><familyName>van Steensel</familyName></personName><contactDetails><email>mvst@sder.azm.nl</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>M.</givenNames><familyName>van Geel</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>C.</givenNames><familyName>Schrander‐Stumpel</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>P.M.</givenNames><familyName>Steijlen</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>J.C.J.M.</givenNames><familyName>Veraart</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="NL" type="organization"><unparsedAffiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="NL" type="organization"><unparsedAffiliation>Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="NL" type="organization"><unparsedAffiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">lymphedema</keyword><keyword xml:id="kwd2">heart</keyword><keyword xml:id="kwd3">septal defect</keyword><keyword xml:id="kwd4">fetal hydrops</keyword><keyword xml:id="kwd5">Irons–Bianchi syndrome</keyword></keywordGroup><fundingInfo><fundingAgency>Netherlands Organization for Scientific Research, The University Hospital Maastricht and Barrier Therapeutics</fundingAgency><fundingNumber>907‐00‐202</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema. © 2007 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>How to cite this article: van Steensel MAM, van Geel M, Schrander‐Stumpel C, Steijlen PM, Veraart JCJM. 2007. Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome. Am J Med Genet Part A 143A:2448–2451.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>CONFIRMATION OF IRONS SYNDROME</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome</title></titleInfo><name type="personal"><namePart type="given">M.A.M.</namePart><namePart type="family">van Steensel</namePart><affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</affiliation><affiliation>Department of Dermatology, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">van Geel</namePart><affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Schrander‐Stumpel</namePart><affiliation>Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands</affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P.M.</namePart><namePart type="family">Steijlen</namePart><affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.C.J.M.</namePart><namePart type="family">Veraart</namePart><affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands</affiliation><affiliation>GROW research school, University of Maastricht, Maastricht, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="case-report" displayLabel="caseStudy"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-10-15</dateIssued><dateCaptured encoding="w3cdtf">2007-04-16</dateCaptured><dateValid encoding="w3cdtf">2007-06-20</dateValid><copyrightDate encoding="w3cdtf">2007</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">3</extent><extent unit="references">8</extent><extent unit="words">1596</extent></physicalDescription><abstract lang="en">We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema. © 2007 Wiley‐Liss, Inc.</abstract><note type="content">*How to cite this article: van Steensel MAM, van Geel M, Schrander‐Stumpel C, Steijlen PM, Veraart JCJM. 2007. Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome. Am J Med Genet Part A 143A:2448–2451.</note><note type="funding">Netherlands Organization for Scientific Research, The University Hospital Maastricht and Barrier Therapeutics - No. 907‐00‐202; </note><subject lang="en"><genre>keywords</genre><topic>lymphedema</topic><topic>heart</topic><topic>septal defect</topic><topic>fetal hydrops</topic><topic>Irons–Bianchi syndrome</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Clinical Report</topic></subject><identifier type="ISSN">1552-4825</identifier><identifier type="eISSN">1552-4833</identifier><identifier type="DOI">10.1002/(ISSN)1552-4833</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>143A</number></detail><detail type="issue"><caption>no.</caption><number>20</number></detail><extent unit="pages"><start>2448</start><end>2451</end><total>4</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><identifier type="ISSN">0148-7299</identifier><identifier type="ISSN">1096-8628</identifier><part><date point="end">2004</date></part></relatedItem><identifier type="istex">C2DF068F67AA474E0E094CC7E59989822B1651F8</identifier><identifier type="DOI">10.1002/ajmg.a.31949</identifier><identifier type="ArticleID">AJMG31949</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005B54 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 005B54 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:C2DF068F67AA474E0E094CC7E59989822B1651F8
|texte= Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome
}}
| This area was generated with Dilib version V0.6.31. |  |