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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome</title><author><name sortKey="Joyce, Sarah" sort="Joyce, Sarah" uniqKey="Joyce S" first="Sarah" last="Joyce">Sarah Joyce</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation><nlm:aff id="aff2"><institution>Department of Dermatology, St George's Hospital NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation><nlm:aff id="aff3"><institution>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Nagaraja, Rani" sort="Nagaraja, Rani" uniqKey="Nagaraja R" first="Rani" last="Nagaraja">Rani Nagaraja</name><affiliation><nlm:aff id="aff4"><institution>Department of Gastroenterology, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Short, John" sort="Short, John" uniqKey="Short J" first="John" last="Short">John Short</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Moore, Sandra" sort="Moore, Sandra" uniqKey="Moore S" first="Sandra" last="Moore">Sandra Moore</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name><affiliation><nlm:aff id="aff3"><institution>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26242988</idno><idno type="pmc">4930084</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930084</idno><idno type="RBID">PMC:4930084</idno><idno type="doi">10.1038/ejhg.2015.175</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000913</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000913</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome</title><author><name sortKey="Joyce, Sarah" sort="Joyce, Sarah" uniqKey="Joyce S" first="Sarah" last="Joyce">Sarah Joyce</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation><nlm:aff id="aff2"><institution>Department of Dermatology, St George's Hospital NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation><nlm:aff id="aff3"><institution>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Nagaraja, Rani" sort="Nagaraja, Rani" uniqKey="Nagaraja R" first="Rani" last="Nagaraja">Rani Nagaraja</name><affiliation><nlm:aff id="aff4"><institution>Department of Gastroenterology, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Short, John" sort="Short, John" uniqKey="Short J" first="John" last="Short">John Short</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Moore, Sandra" sort="Moore, Sandra" uniqKey="Moore S" first="Sandra" last="Moore">Sandra Moore</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer</name><affiliation><nlm:aff id="aff3"><institution>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><nlm:aff id="aff1"><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London</institution>, London,<country>UK</country></nlm:aff></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>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.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id><journal-title-group><journal-title>European Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">1018-4813</issn><issn pub-type="epub">1476-5438</issn><publisher><publisher-name>Nature Publishing Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26242988</article-id><article-id pub-id-type="pmc">4930084</article-id><article-id pub-id-type="pii">ejhg2015175</article-id><article-id pub-id-type="doi">10.1038/ejhg.2015.175</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome</article-title><alt-title alt-title-type="running">The lymphatic phenotype in Noonan and CFC syndrome</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Joyce</surname><given-names>Sarah</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Gordon</surname><given-names>Kristiana</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Glen</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Ostergaard</surname><given-names>Pia</given-names></name><xref ref-type="aff" rid="aff3">3</xref><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-2190-1356</contrib-id></contrib><contrib contrib-type="author"><name><surname>Nagaraja</surname><given-names>Rani</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Short</surname><given-names>John</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Moore</surname><given-names>Sandra</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Mortimer</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Mansour</surname><given-names>Sahar</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><aff id="aff1"><label>1</label><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></aff><aff id="aff2"><label>2</label><institution>Department of Dermatology, St George's Hospital NHS Trust</institution>, London,<country>UK</country></aff><aff id="aff3"><label>3</label><institution>Lymphovascular Research Unit, Cardiovascular & Cell Sciences Research Institute, St George's University of London</institution>, London,<country>UK</country></aff><aff id="aff4"><label>4</label><institution>Department of Gastroenterology, St George's Healthcare NHS Trust</institution>, London,<country>UK</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>, London SW17 0RE, <country>UK</country>. Tel: +44 20 8725 0957; Fax: +44 20 8725 3444; E-mail: <email>smansour@sgul.ac.uk</email></corresp></author-notes><pub-date pub-type="ppub"><month>05</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>05</day><month>08</month><year>2015</year></pub-date><volume>24</volume><issue>5</issue><fpage>690</fpage><lpage>696</lpage><history><date date-type="received"><day>24</day><month>03</month><year>2015</year></date><date date-type="rev-recd"><day>30</day><month>06</month><year>2015</year></date><date date-type="accepted"><day>03</day><month>07</month><year>2015</year></date></history><permissions><copyright-statement>Copyright © 2016 Macmillan Publishers Limited</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>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.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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