LymphedemaV1, Main, Exploration, bibRecord, 001708

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

Identifieur interne : 001708 ( Main/Exploration ); précédent : 001707; suivant : 001709

The 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.

RBID : PMC:4930084

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 :
- Adolescent, Adult, Child, Ectodermal Dysplasia (diagnosis), Facies, Failure to Thrive (diagnosis), Female, Heart Defects, Congenital (diagnosis), Humans, Lymphatic System (diagnostic imaging), Lymphoscintigraphy, Male, Noonan Syndrome (diagnosis), Phenotype.
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:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930084

DOI: 10.1038/ejhg.2015.175
PubMed: 26242988
PubMed Central: 4930084

Affiliations:

Le document en format XML

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<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>
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<term>Enfant</term>
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<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>
<term>Failure to Thrive</term>
<term>Heart Defects, Congenital</term>
<term>Noonan Syndrome</term>
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<term>Dysplasie ectodermique</term>
<term>Retard de croissance staturo-pondérale</term>
<term>Syndrome de Noonan</term>
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<term>Adult</term>
<term>Child</term>
<term>Facies</term>
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<term>Humans</term>
<term>Lymphoscintigraphy</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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Serveur d'exploration sur le lymphœdème

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.