The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Identifieur interne : 000596 ( PubMed/Checkpoint ); précédent : 000595; suivant : 000597The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Auteurs : Sarah Joyce [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Rani Nagaraja [Royaume-Uni] ; John Short [Royaume-Uni] ; Sandra Moore [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Sahar Mansour [Royaume-Uni]Source :
- European journal of human genetics : EJHG [ 1476-5438 ] ; 2016.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Cardiopathies congénitales (diagnostic), Dysplasie ectodermique (diagnostic), Enfant, Faciès, Femelle, Humains, Lymphoscintigraphie, Mâle, Phénotype, Retard de croissance staturo-pondérale (diagnostic), Syndrome de Noonan (diagnostic), Système lymphatique (imagerie diagnostique).
- MESH :
- diagnostic : Cardiopathies congénitales, Dysplasie ectodermique, Retard de croissance staturo-pondérale, Syndrome de Noonan.
- imagerie diagnostique : Système lymphatique.
- Adolescent, Adulte, Enfant, Faciès, Femelle, Humains, Lymphoscintigraphie, Mâle, Phénotype.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Ectodermal Dysplasia, Failure to Thrive, Heart Defects, Congenital, Noonan Syndrome.
- diagnostic imaging : Lymphatic System.
- Adolescent, Adult, Child, Facies, Female, Humans, Lymphoscintigraphy, Male, Phenotype.
Abstract
The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS-MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are known to be associated with lymphatic problems, but this has not been well characterised to date. We describe 11 patients with Noonan or CFC syndrome with significant, persistent and progressive lymphatic dysplasia. The lymphatic disorders in Noonan and CFC syndrome are rare, but have a characteristic pattern with bilateral lower limb lymphoedema, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive. Lymphoscintigraphy demonstrates reflux and/or rerouting of lymphatic drainage associated with incompetent veins on the venous duplex scans.
DOI: 10.1038/ejhg.2015.175
PubMed: 26242988
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:26242988Le document en format XML
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Dermatology, St George's Hospital NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Dermatology, St George's Hospital NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="3"><nlm:affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><nlm:affiliation>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Nagaraja, Rani" sort="Nagaraja, Rani" uniqKey="Nagaraja R" first="Rani" last="Nagaraja">Rani Nagaraja</name><affiliation wicri:level="3"><nlm:affiliation>Department of Gastroenterology, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Gastroenterology, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Short, John" sort="Short, John" uniqKey="Short J" first="John" last="Short">John Short</name><affiliation wicri:level="3"><nlm:affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Moore, Sandra" sort="Moore, Sandra" uniqKey="Moore S" first="Sandra" last="Moore">Sandra Moore</name><affiliation wicri:level="3"><nlm:affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)</name><affiliation wicri:level="4"><nlm:affiliation>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="3"><nlm:affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j">European journal of human genetics : EJHG</title><idno type="eISSN">1476-5438</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Ectodermal Dysplasia (diagnosis)</term><term>Facies</term><term>Failure to Thrive (diagnosis)</term><term>Female</term><term>Heart Defects, Congenital (diagnosis)</term><term>Humans</term><term>Lymphatic System (diagnostic imaging)</term><term>Lymphoscintigraphy</term><term>Male</term><term>Noonan Syndrome (diagnosis)</term><term>Phenotype</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Cardiopathies congénitales (diagnostic)</term><term>Dysplasie ectodermique (diagnostic)</term><term>Enfant</term><term>Faciès</term><term>Femelle</term><term>Humains</term><term>Lymphoscintigraphie</term><term>Mâle</term><term>Phénotype</term><term>Retard de croissance staturo-pondérale (diagnostic)</term><term>Syndrome de Noonan (diagnostic)</term><term>Système lymphatique (imagerie diagnostique)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ectodermal Dysplasia</term><term>Failure to Thrive</term><term>Heart Defects, Congenital</term><term>Noonan Syndrome</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Cardiopathies congénitales</term><term>Dysplasie ectodermique</term><term>Retard de croissance staturo-pondérale</term><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Lymphatic System</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Système lymphatique</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Facies</term><term>Female</term><term>Humans</term><term>Lymphoscintigraphy</term><term>Male</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Enfant</term><term>Faciès</term><term>Femelle</term><term>Humains</term><term>Lymphoscintigraphie</term><term>Mâle</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS-MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are known to be associated with lymphatic problems, but this has not been well characterised to date. We describe 11 patients with Noonan or CFC syndrome with significant, persistent and progressive lymphatic dysplasia. The lymphatic disorders in Noonan and CFC syndrome are rare, but have a characteristic pattern with bilateral lower limb lymphoedema, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive. Lymphoscintigraphy demonstrates reflux and/or rerouting of lymphatic drainage associated with incompetent veins on the venous duplex scans.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26242988</PMID><DateCreated><Year>2016</Year><Month>04</Month><Day>14</Day></DateCreated><DateCompleted><Year>2016</Year><Month>12</Month><Day>26</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>02</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1476-5438</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>5</Issue><PubDate><Year>2016</Year><Month>May</Month></PubDate></JournalIssue><Title>European journal of human genetics : EJHG</Title><ISOAbbreviation>Eur. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.</ArticleTitle><Pagination><MedlinePgn>690-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ejhg.2015.175</ELocationID><Abstract><AbstractText>The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS-MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are known to be associated with lymphatic problems, but this has not been well characterised to date. We describe 11 patients with Noonan or CFC syndrome with significant, persistent and progressive lymphatic dysplasia. The lymphatic disorders in Noonan and CFC syndrome are rare, but have a characteristic pattern with bilateral lower limb lymphoedema, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive. Lymphoscintigraphy demonstrates reflux and/or rerouting of lymphatic drainage associated with incompetent veins on the venous duplex scans.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Joyce</LastName><ForeName>Sarah</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gordon</LastName><ForeName>Kristiana</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Dermatology, St George's Hospital NHS Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Glen</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ostergaard</LastName><ForeName>Pia</ForeName><Initials>P</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-2190-1356</Identifier><AffiliationInfo><Affiliation>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nagaraja</LastName><ForeName>Rani</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Gastroenterology, St George's Healthcare NHS Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Short</LastName><ForeName>John</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Moore</LastName><ForeName>Sandra</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mortimer</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mansour</LastName><ForeName>Sahar</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London, London, UK.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>BHF_SP/13/5/30288</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>08</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Eur J Hum Genet</MedlineTA><NlmUniqueID>9302235</NlmUniqueID><ISSNLinking>1018-4813</ISSNLinking></MedlineJournalInfo><SupplMeshList><SupplMeshName Type="Disease" UI="C535579">Cardiofaciocutaneous syndrome</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1986 May;24(1):127-9</RefSource><PMID Version="1">3706401</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2007 Dec;44(12 ):763-71</RefSource><PMID Version="1">17704260</PMID></CommentsCorrections><CommentsCorrections 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MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008208" MajorTopicYN="N">Lymphatic System</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="Y">diagnostic imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D061305" MajorTopicYN="N">Lymphoscintigraphy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009634" MajorTopicYN="N">Noonan Syndrome</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="Y">Phenotype</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4930084 [Available on 05/01/17]</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>03</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>06</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>07</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>8</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>8</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>12</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26242988</ArticleId><ArticleId IdType="pii">ejhg2015175</ArticleId><ArticleId IdType="doi">10.1038/ejhg.2015.175</ArticleId><ArticleId IdType="pmc">PMC4930084</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Joyce, Sarah" sort="Joyce, Sarah" uniqKey="Joyce S" first="Sarah" last="Joyce">Sarah Joyce</name></region><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Moore, Sandra" sort="Moore, Sandra" uniqKey="Moore S" first="Sandra" last="Moore">Sandra Moore</name><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)</name><name sortKey="Nagaraja, Rani" sort="Nagaraja, Rani" uniqKey="Nagaraja R" first="Rani" last="Nagaraja">Rani Nagaraja</name><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><name sortKey="Short, John" sort="Short, John" uniqKey="Short J" first="John" last="Short">John Short</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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