LymphedemaV1, Main, Exploration, bibRecord, 005F16

[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].

Identifieur interne : 005F16 ( Main/Exploration ); précédent : 005F15; suivant : 005F17

[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].

Auteurs : S C Hatt Brupbacher [Suisse] ; O. Job ; P. Senn ; W. Dedes

Source :

Klinische Monatsblatter fur Augenheilkunde [ 1439-3999 ] ; 2009.

RBID : pubmed:19384796

Descripteurs français

KwdFr :
- Choroïde (malformations), Dysplasie rétinienne (), Dysplasie rétinienne (diagnostic), Dysplasie rétinienne (génétique), Humains, Lymphoedème (), Lymphoedème (diagnostic), Lymphoedème (génétique), Malformations multiples (), Malformations multiples (diagnostic), Malformations multiples (génétique), Microcéphalie (), Microcéphalie (diagnostic), Microcéphalie (génétique), Mâle, Nourrisson, Syndrome.
MESH :
- diagnostic : Dysplasie rétinienne, Lymphoedème, Malformations multiples, Microcéphalie.
- génétique : Dysplasie rétinienne, Lymphoedème, Malformations multiples, Microcéphalie.
- malformations : Choroïde.
- Dysplasie rétinienne, Humains, Lymphoedème, Malformations multiples, Microcéphalie, Mâle, Nourrisson, Syndrome.

English descriptors

KwdEn :
- Abnormalities, Multiple (diagnosis), Abnormalities, Multiple (genetics), Abnormalities, Multiple (therapy), Choroid (abnormalities), Humans, Infant, Lymphedema (diagnosis), Lymphedema (genetics), Lymphedema (therapy), Male, Microcephaly (diagnosis), Microcephaly (genetics), Microcephaly (therapy), Retinal Dysplasia (diagnosis), Retinal Dysplasia (genetics), Retinal Dysplasia (therapy), Syndrome.
MESH :
- abnormalities : Choroid.
- diagnosis : Abnormalities, Multiple, Lymphedema, Microcephaly, Retinal Dysplasia.
- genetics : Abnormalities, Multiple, Lymphedema, Microcephaly, Retinal Dysplasia.
- therapy : Abnormalities, Multiple, Lymphedema, Microcephaly, Retinal Dysplasia.
- Humans, Infant, Male, Syndrome.

Abstract

Microcephaly-lymphoedema-chorioretinal dysplasia (MLCRD) is a rare syndrome characterized by microcephaly, chorioretinal dysplasia, lymphoedema and a characteristic facial phenotype. The exact mode of inheritance is uncertain, autosomal dominant, recessive and X-chromosomal cases have been reported.

DOI: 10.1055/s-0028-1109313
PubMed: 19384796

Affiliations:

Suisse

Le document en format XML

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<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (genetics)</term>
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<term>Microcephaly (genetics)</term>
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<term>Dysplasie rétinienne (diagnostic)</term>
<term>Dysplasie rétinienne (génétique)</term>
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<term>Lymphoedème ()</term>
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<term>Malformations multiples (diagnostic)</term>
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<term>Microcéphalie</term>
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<front><div type="abstract" xml:lang="en">Microcephaly-lymphoedema-chorioretinal dysplasia (MLCRD) is a rare syndrome characterized by microcephaly, chorioretinal dysplasia, lymphoedema and a characteristic facial phenotype. The exact mode of inheritance is uncertain, autosomal dominant, recessive and X-chromosomal cases have been reported.</div>
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Serveur d'exploration sur le lymphœdème

[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].

[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia 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
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