LymphedemaV1, PubMed, Checkpoint, bibRecord, 003944

Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia.

Identifieur interne : 003944 ( PubMed/Checkpoint ); précédent : 003943; suivant : 003945

Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia.

Auteurs : Eugenio Bonioli [Italie] ; Raoul C. Hennekam ; Gianantonio Spena ; Guido Morcaldi ; Antonio Di Stefano ; Giovanni Serra ; Carlo Bellini

Source :

American journal of medical genetics. Part A [ 1552-4825 ] ; 2005.

RBID : pubmed:15578573

Descripteurs français

KwdFr :
- Caryotypage, Crâne (malformations), Dysplasie ectodermique (anatomopathologie), Encéphale (malformations), Femelle, Humains, Lymphangiectasie intestinale (anatomopathologie), Malformations multiples (anatomopathologie), Malformations multiples (génétique), Nourrisson, Syndrome.
MESH :
- anatomopathologie : Dysplasie ectodermique, Lymphangiectasie intestinale, Malformations multiples.
- génétique : Malformations multiples.
- malformations : Crâne, Encéphale.
- Caryotypage, Femelle, Humains, Nourrisson, Syndrome.

English descriptors

KwdEn :
- Abnormalities, Multiple (genetics), Abnormalities, Multiple (pathology), Brain (abnormalities), Ectodermal Dysplasia (pathology), Female, Humans, Infant, Karyotyping, Lymphangiectasis, Intestinal (pathology), Skull (abnormalities), Syndrome.
MESH :
- abnormalities : Brain, Skull.
- genetics : Abnormalities, Multiple.
- pathology : Abnormalities, Multiple, Ectodermal Dysplasia, Lymphangiectasis, Intestinal.
- Female, Humans, Infant, Karyotyping, Syndrome.

Abstract

We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal lymphangiectasia. The association of intestinal lymphangiectasia and aplasia cutis, and the association of intestinal lymphangiectasia with brain heterotopia in the lymphedema-lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene.

DOI: 10.1002/ajmg.a.30448
PubMed: 15578573

Affiliations:

Italie

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Le document en format XML

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<author><name sortKey="Bonioli, Eugenio" sort="Bonioli, Eugenio" uniqKey="Bonioli E" first="Eugenio" last="Bonioli">Eugenio Bonioli</name>
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<term>Ectodermal Dysplasia (pathology)</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Karyotyping</term>
<term>Lymphangiectasis, Intestinal (pathology)</term>
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<term>Dysplasie ectodermique (anatomopathologie)</term>
<term>Encéphale (malformations)</term>
<term>Femelle</term>
<term>Humains</term>
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<term>Syndrome</term>
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<term>Malformations multiples</term>
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<term>Karyotyping</term>
<term>Syndrome</term>
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<term>Humains</term>
<term>Nourrisson</term>
<term>Syndrome</term>
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<front><div type="abstract" xml:lang="en">We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal lymphangiectasia. The association of intestinal lymphangiectasia and aplasia cutis, and the association of intestinal lymphangiectasia with brain heterotopia in the lymphedema-lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene.</div>
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia.

Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia.

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

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