Congenital vascular malformations: A series of five prenatally diagnosed cases
Identifieur interne : 003B74 ( Istex/Corpus ); précédent : 003B73; suivant : 003B75Congenital vascular malformations: A series of five prenatally diagnosed cases
Auteurs : Fiona Connell ; Tessa Homfray ; Baskaran Thilaganathan ; Amarnath Bhide ; Iona Jeffrey ; Renata Hutt ; Peter Mortimer ; Sahar MansourSource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2008-10-15.
Abstract
In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled “hemangiolymphangiomas”). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post‐mortem examination findings are described. In our experience the outcome has been poor and this highlights the dilemma faced by clinicians and parents when these lesions are diagnosed prenatally. We present a series of five, prenatally diagnosed vascular (combined vascular malformations and simple localized lymphatic malformations) malformations. Three cases had lower leg involvement with extension into the abdomen and two cases had lymphatic malformations of the chest wall with involvement of the upper limb(s). Management of a twin pregnancy, in which one twin was affected, is described. In two cases, termination of pregnancy was undertaken because of the extensive nature of the lesion. One case died in utero and one in the neonatal period. The fifth case is an 11‐year‐old boy, whose lower limb deformity illustrates the considerable morbidity associated with this condition. © 2008 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.32502
Links to Exploration step
ISTEX:7EF049F55E9A1EE8671464BB81368FF12D3176BCLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Congenital vascular malformations: A series of five prenatally diagnosed cases</title><author><name sortKey="Connell, Fiona" sort="Connell, Fiona" uniqKey="Connell F" first="Fiona" last="Connell">Fiona Connell</name><affiliation><mods:affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name><affiliation><mods:affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Thilaganathan, Baskaran" sort="Thilaganathan, Baskaran" uniqKey="Thilaganathan B" first="Baskaran" last="Thilaganathan">Baskaran Thilaganathan</name><affiliation><mods:affiliation>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Bhide, Amarnath" sort="Bhide, Amarnath" uniqKey="Bhide A" first="Amarnath" last="Bhide">Amarnath Bhide</name><affiliation><mods:affiliation>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Jeffrey, Iona" sort="Jeffrey, Iona" uniqKey="Jeffrey I" first="Iona" last="Jeffrey">Iona Jeffrey</name><affiliation><mods:affiliation>Pathology Department, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Hutt, Renata" sort="Hutt, Renata" uniqKey="Hutt R" first="Renata" last="Hutt">Renata Hutt</name><affiliation><mods:affiliation>Obstetric and Gynaecology Department, Royal Surrey County Hospital NHS Trust, Guildford, Surrey, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name><affiliation><mods:affiliation>Cardiac and Vascular Sciences (Dermatology), St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><mods:affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London SW17 0RE, United Kingdom.</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:7EF049F55E9A1EE8671464BB81368FF12D3176BC</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1002/ajmg.a.32502</idno><idno type="url">https://api.istex.fr/document/7EF049F55E9A1EE8671464BB81368FF12D3176BC/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003B74</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">003B74</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Congenital vascular malformations: A series of five prenatally diagnosed cases<ref type="note" target="#fn1"></ref></title><author><name sortKey="Connell, Fiona" sort="Connell, Fiona" uniqKey="Connell F" first="Fiona" last="Connell">Fiona Connell</name><affiliation><mods:affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name><affiliation><mods:affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Thilaganathan, Baskaran" sort="Thilaganathan, Baskaran" uniqKey="Thilaganathan B" first="Baskaran" last="Thilaganathan">Baskaran Thilaganathan</name><affiliation><mods:affiliation>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Bhide, Amarnath" sort="Bhide, Amarnath" uniqKey="Bhide A" first="Amarnath" last="Bhide">Amarnath Bhide</name><affiliation><mods:affiliation>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Jeffrey, Iona" sort="Jeffrey, Iona" uniqKey="Jeffrey I" first="Iona" last="Jeffrey">Iona Jeffrey</name><affiliation><mods:affiliation>Pathology Department, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Hutt, Renata" sort="Hutt, Renata" uniqKey="Hutt R" first="Renata" last="Hutt">Renata Hutt</name><affiliation><mods:affiliation>Obstetric and Gynaecology Department, Royal Surrey County Hospital NHS Trust, Guildford, Surrey, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name><affiliation><mods:affiliation>Cardiac and Vascular Sciences (Dermatology), St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><mods:affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London SW17 0RE, United Kingdom.</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">146A</biblScope><biblScope unit="issue">20</biblScope><biblScope unit="page" from="2673">2673</biblScope><biblScope unit="page" to="2680">2680</biblScope><biblScope unit="page-count">8</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-10-15">2008-10-15</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">In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled “hemangiolymphangiomas”). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post‐mortem examination findings are described. In our experience the outcome has been poor and this highlights the dilemma faced by clinicians and parents when these lesions are diagnosed prenatally. We present a series of five, prenatally diagnosed vascular (combined vascular malformations and simple localized lymphatic malformations) malformations. Three cases had lower leg involvement with extension into the abdomen and two cases had lymphatic malformations of the chest wall with involvement of the upper limb(s). Management of a twin pregnancy, in which one twin was affected, is described. In two cases, termination of pregnancy was undertaken because of the extensive nature of the lesion. One case died in utero and one in the neonatal period. The fifth case is an 11‐year‐old boy, whose lower limb deformity illustrates the considerable morbidity associated with this condition. © 2008 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>malformation</json:string><json:string>lymphatic</json:string><json:string>vascular malformations</json:string><json:string>fetal</json:string><json:string>vascular malformation</json:string><json:string>ultrasound</json:string><json:string>fetus</json:string><json:string>online</json:string><json:string>prenatal</json:string><json:string>online issue</json:string><json:string>gure</json:string><json:string>gestation</json:string><json:string>genetics</json:string><json:string>weeks gestation</json:string><json:string>lymphangioma</json:string><json:string>abnormality</json:string><json:string>mulliken</json:string><json:string>anomaly</json:string><json:string>lesion</json:string><json:string>medical genetics part</json:string><json:string>lymphatic malformations</json:string><json:string>american journal</json:string><json:string>vascular</json:string><json:string>prenatal diagnosis</json:string><json:string>cranmer terrace</json:string><json:string>vascular anomalies</json:string><json:string>localized lymphatic malformations</json:string><json:string>rapid growth</json:string><json:string>lymphatic malformation</json:string><json:string>localized</json:string><json:string>congenital</json:string><json:string>pelvis</json:string><json:string>genet part</json:string><json:string>lymphatic vessels</json:string><json:string>other structures</json:string><json:string>chest wall</json:string><json:string>selective termination</json:string><json:string>fetal medicine unit</json:string><json:string>vascular tumors</json:string><json:string>caucasian woman</json:string><json:string>examination image</json:string></teeft></keywords><author><json:item><name>Fiona Connell</name><affiliations><json:string>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Tessa Homfray</name><affiliations><json:string>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Baskaran Thilaganathan</name><affiliations><json:string>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Amarnath Bhide</name><affiliations><json:string>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Iona Jeffrey</name><affiliations><json:string>Pathology Department, St George's University of London, Cranmer Terrace, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Renata Hutt</name><affiliations><json:string>Obstetric and Gynaecology Department, Royal Surrey County Hospital NHS Trust, Guildford, Surrey, United Kingdom</json:string></affiliations></json:item><json:item><name>Peter Mortimer</name><affiliations><json:string>Cardiac and Vascular Sciences (Dermatology), St George's University of London, Cranmer Terrace, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Sahar Mansour</name><affiliations><json:string>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</json:string><json:string>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London SW17 0RE, United Kingdom.</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>combined vascular malformation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>macrocystic lymphatic malformation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hemangiolymphangiomas</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>prenatal ultrasonagraphy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>post‐mortem examination</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mediastinal vascular malformations</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>limb vascular malformations</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>cystic hygroma</value></json:item></subject><articleId><json:string>AJMG32502</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>caseStudy</json:string></originalGenre><abstract>In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled “hemangiolymphangiomas”). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post‐mortem examination findings are described. In our experience the outcome has been poor and this highlights the dilemma faced by clinicians and parents when these lesions are diagnosed prenatally. We present a series of five, prenatally diagnosed vascular (combined vascular malformations and simple localized lymphatic malformations) malformations. Three cases had lower leg involvement with extension into the abdomen and two cases had lymphatic malformations of the chest wall with involvement of the upper limb(s). Management of a twin pregnancy, in which one twin was affected, is described. In two cases, termination of pregnancy was undertaken because of the extensive nature of the lesion. One case died in utero and one in the neonatal period. The fifth case is an 11‐year‐old boy, whose lower limb deformity illustrates the considerable morbidity associated with this condition. © 2008 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>5.866</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1286</abstractCharCount><pdfWordCount>3658</pdfWordCount><pdfCharCount>24064</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>184</abstractWordCount></qualityIndicators><title>Congenital vascular malformations: A series of five prenatally diagnosed cases</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>146A</volume><issue>20</issue><pages><first>2673</first><last>2680</last><total>8</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></inist></categories><publicationDate>2008</publicationDate><copyrightDate>2008</copyrightDate><doi><json:string>10.1002/ajmg.a.32502</json:string></doi><id>7EF049F55E9A1EE8671464BB81368FF12D3176BC</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/7EF049F55E9A1EE8671464BB81368FF12D3176BC/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/7EF049F55E9A1EE8671464BB81368FF12D3176BC/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/7EF049F55E9A1EE8671464BB81368FF12D3176BC/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Congenital vascular malformations: A series of five prenatally diagnosed cases<ref type="note" target="#fn1"></ref></title></titleStmt><publicationStmt><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><licence>Copyright © 2008 Wiley‐Liss, Inc.</licence></availability><date type="published" when="2008-10-15"></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">Congenital vascular malformations: A series of five prenatally diagnosed cases<ref type="note" target="#fn1"></ref></title><title level="a" type="short" xml:lang="en">CONGENITAL VASCULAR MALFORMATIONS</title><author xml:id="author-0000"><persName><forename type="first">Fiona</forename><surname>Connell</surname></persName><affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Tessa</forename><surname>Homfray</surname></persName><affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Baskaran</forename><surname>Thilaganathan</surname></persName><affiliation>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Amarnath</forename><surname>Bhide</surname></persName><affiliation>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Iona</forename><surname>Jeffrey</surname></persName><affiliation>Pathology Department, St George's University of London, Cranmer Terrace, London, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Renata</forename><surname>Hutt</surname></persName><affiliation>Obstetric and Gynaecology Department, Royal Surrey County Hospital NHS Trust, Guildford, Surrey, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Peter</forename><surname>Mortimer</surname></persName><affiliation>Cardiac and Vascular Sciences (Dermatology), St George's University of London, Cranmer Terrace, London, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0007" role="corresp"><persName><forename type="first">Sahar</forename><surname>Mansour</surname></persName><email>smansour@sgul.ac.uk</email><affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom<address><country key="GB"></country></address></affiliation><affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London SW17 0RE, United Kingdom.</affiliation></author><idno type="istex">7EF049F55E9A1EE8671464BB81368FF12D3176BC</idno><idno type="DOI">10.1002/ajmg.a.32502</idno><idno type="unit">AJMG32502</idno><idno type="toTypesetVersion">file:AJMG.AJMG32502.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.v146a:20</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">146A</biblScope><biblScope unit="issue">20</biblScope><biblScope unit="page" from="2673">2673</biblScope><biblScope unit="page" to="2680">2680</biblScope><biblScope unit="page-count">8</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-10-15"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled “hemangiolymphangiomas”). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post‐mortem examination findings are described. In our experience the outcome has been poor and this highlights the dilemma faced by clinicians and parents when these lesions are diagnosed prenatally. We present a series of five, prenatally diagnosed vascular (combined vascular malformations and simple localized lymphatic malformations) malformations. Three cases had lower leg involvement with extension into the abdomen and two cases had lymphatic malformations of the chest wall with involvement of the upper limb(s). Management of a twin pregnancy, in which one twin was affected, is described. In two cases, termination of pregnancy was undertaken because of the extensive nature of the lesion. One case died in utero and one in the neonatal period. The fifth case is an 11‐year‐old boy, whose lower limb deformity illustrates the considerable morbidity associated with this condition. © 2008 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">combined vascular malformation</term><term xml:id="kwd2">macrocystic lymphatic malformation</term><term xml:id="kwd3">hemangiolymphangiomas</term><term xml:id="kwd4">prenatal ultrasonagraphy</term><term xml:id="kwd5">post‐mortem examination</term><term xml:id="kwd6">mediastinal vascular malformations</term><term xml:id="kwd7">limb vascular malformations</term><term xml:id="kwd8">cystic hygroma</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/7EF049F55E9A1EE8671464BB81368FF12D3176BC/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.v146a:20</doi><idGroup><id type="focusSection" value="0"></id></idGroup><titleGroup><title type="focusSection" xml:lang="en">American Journal of Medical Genetics Part A</title></titleGroup><numberingGroup><numbering type="journalVolume" number="146">146A</numbering><numbering type="journalIssue">20</numbering></numberingGroup><coverDate startDate="2008-10-15">15 October 2008</coverDate></publicationMeta><publicationMeta level="unit" type="caseStudy" position="14" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.a.32502</doi><idGroup><id type="unit" value="AJMG32502"></id></idGroup><countGroup><count type="pageTotal" number="8"></count></countGroup><titleGroup><title type="articleCategory">Clinical Report</title><title type="tocHeading1">Clinical Reports</title></titleGroup><copyright ownership="publisher">Copyright © 2008 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2008-01-17"></event><event type="manuscriptAccepted" date="2008-05-24"></event><event type="publishedOnlineEarlyUnpaginated" date="2008-09-16"></event><event type="firstOnline" date="2008-09-16"></event><event type="publishedOnlineFinalForm" date="2008-09-24"></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">2673</numbering><numbering type="pageLast">2680</numbering></numberingGroup><correspondenceTo>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London SW17 0RE, United Kingdom.</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG32502.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="11"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="20"></count><count type="wordTotal" number="4207"></count></countGroup><titleGroup><title type="main" xml:lang="en">Congenital vascular malformations: A series of five prenatally diagnosed cases<link href="#fn1"></link></title><title type="short" xml:lang="en">CONGENITAL VASCULAR MALFORMATIONS</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Fiona</givenNames><familyName>Connell</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Tessa</givenNames><familyName>Homfray</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Baskaran</givenNames><familyName>Thilaganathan</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Amarnath</givenNames><familyName>Bhide</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Iona</givenNames><familyName>Jeffrey</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Renata</givenNames><familyName>Hutt</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Peter</givenNames><familyName>Mortimer</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Sahar</givenNames><familyName>Mansour</familyName></personName><contactDetails><email>smansour@sgul.ac.uk</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>Pathology Department, St George's University of London, Cranmer Terrace, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Obstetric and Gynaecology Department, Royal Surrey County Hospital NHS Trust, Guildford, Surrey, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="GB" type="organization"><unparsedAffiliation>Cardiac and Vascular Sciences (Dermatology), St George's University of London, Cranmer Terrace, London, United Kingdom</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">combined vascular malformation</keyword><keyword xml:id="kwd2">macrocystic lymphatic malformation</keyword><keyword xml:id="kwd3">hemangiolymphangiomas</keyword><keyword xml:id="kwd4">prenatal ultrasonagraphy</keyword><keyword xml:id="kwd5">post‐mortem examination</keyword><keyword xml:id="kwd6">mediastinal vascular malformations</keyword><keyword xml:id="kwd7">limb vascular malformations</keyword><keyword xml:id="kwd8">cystic hygroma</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled “hemangiolymphangiomas”). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post‐mortem examination findings are described. In our experience the outcome has been poor and this highlights the dilemma faced by clinicians and parents when these lesions are diagnosed prenatally. We present a series of five, prenatally diagnosed vascular (combined vascular malformations and simple localized lymphatic malformations) malformations. Three cases had lower leg involvement with extension into the abdomen and two cases had lymphatic malformations of the chest wall with involvement of the upper limb(s). Management of a twin pregnancy, in which one twin was affected, is described. In two cases, termination of pregnancy was undertaken because of the extensive nature of the lesion. One case died in utero and one in the neonatal period. The fifth case is an 11‐year‐old boy, whose lower limb deformity illustrates the considerable morbidity associated with this condition. © 2008 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>How to cite this article: Connell F, Homfray T, Thilaganathan B, Bhide A, Jeffrey I, Hutt R, Mortimer P, Mansour S. 2008. Congenital vascular malformations: A series of five prenatally diagnosed cases. Am J Med Genet Part A 146A:2673–2680.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Congenital vascular malformations: A series of five prenatally diagnosed cases</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>CONGENITAL VASCULAR MALFORMATIONS</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Congenital vascular malformations: A series of five prenatally diagnosed cases</title></titleInfo><name type="personal"><namePart type="given">Fiona</namePart><namePart type="family">Connell</namePart><affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tessa</namePart><namePart type="family">Homfray</namePart><affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Baskaran</namePart><namePart type="family">Thilaganathan</namePart><affiliation>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Amarnath</namePart><namePart type="family">Bhide</namePart><affiliation>Fetal Medicine Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Iona</namePart><namePart type="family">Jeffrey</namePart><affiliation>Pathology Department, St George's University of London, Cranmer Terrace, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Renata</namePart><namePart type="family">Hutt</namePart><affiliation>Obstetric and Gynaecology Department, Royal Surrey County Hospital NHS Trust, Guildford, Surrey, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Mortimer</namePart><affiliation>Cardiac and Vascular Sciences (Dermatology), St George's University of London, Cranmer Terrace, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sahar</namePart><namePart type="family">Mansour</namePart><affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom</affiliation><affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London SW17 0RE, United Kingdom.</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">2008-10-15</dateIssued><dateCaptured encoding="w3cdtf">2008-01-17</dateCaptured><dateValid encoding="w3cdtf">2008-05-24</dateValid><copyrightDate encoding="w3cdtf">2008</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">11</extent><extent unit="tables">1</extent><extent unit="references">20</extent><extent unit="words">4207</extent></physicalDescription><abstract lang="en">In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled “hemangiolymphangiomas”). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post‐mortem examination findings are described. In our experience the outcome has been poor and this highlights the dilemma faced by clinicians and parents when these lesions are diagnosed prenatally. We present a series of five, prenatally diagnosed vascular (combined vascular malformations and simple localized lymphatic malformations) malformations. Three cases had lower leg involvement with extension into the abdomen and two cases had lymphatic malformations of the chest wall with involvement of the upper limb(s). Management of a twin pregnancy, in which one twin was affected, is described. In two cases, termination of pregnancy was undertaken because of the extensive nature of the lesion. One case died in utero and one in the neonatal period. The fifth case is an 11‐year‐old boy, whose lower limb deformity illustrates the considerable morbidity associated with this condition. © 2008 Wiley‐Liss, Inc.</abstract><note type="content">*How to cite this article: Connell F, Homfray T, Thilaganathan B, Bhide A, Jeffrey I, Hutt R, Mortimer P, Mansour S. 2008. Congenital vascular malformations: A series of five prenatally diagnosed cases. Am J Med Genet Part A 146A:2673–2680.</note><subject lang="en"><genre>keywords</genre><topic>combined vascular malformation</topic><topic>macrocystic lymphatic malformation</topic><topic>hemangiolymphangiomas</topic><topic>prenatal ultrasonagraphy</topic><topic>post‐mortem examination</topic><topic>mediastinal vascular malformations</topic><topic>limb vascular malformations</topic><topic>cystic hygroma</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>2008</date><detail type="volume"><caption>vol.</caption><number>146A</number></detail><detail type="issue"><caption>no.</caption><number>20</number></detail><extent unit="pages"><start>2673</start><end>2680</end><total>8</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">7EF049F55E9A1EE8671464BB81368FF12D3176BC</identifier><identifier type="DOI">10.1002/ajmg.a.32502</identifier><identifier type="ArticleID">AJMG32502</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 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 003B74 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 003B74 | 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:7EF049F55E9A1EE8671464BB81368FF12D3176BC
|texte= Congenital vascular malformations: A series of five prenatally diagnosed cases
}}
| This area was generated with Dilib version V0.6.31. |  |