The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
Identifieur interne : 007713 ( Ncbi/Curation ); précédent : 007712; suivant : 007714The 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 [ 1018-4813 ] ; 2015.
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.
Url:
DOI: 10.1038/ejhg.2015.175
PubMed: 26242988
PubMed Central: 4930084
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<term>Failure to Thrive (diagnosis)</term>
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<term>Heart Defects, Congenital (diagnosis)</term>
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<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>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ectodermal Dysplasia</term>
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<term>Heart Defects, Congenital</term>
<term>Noonan Syndrome</term>
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<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>
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