LymphedemaV1, Istex, Corpus, bibRecord, 002F22

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Identifieur interne : 002F22 ( Istex/Corpus ); précédent : 002F21; suivant : 002F23

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Auteurs : Sibylle Strenge ; Ursula G. Froster

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1998-12-28.

RBID : ISTEX:64FE25E62163035F73824C25865E85A91EFD818C

Abstract

Patients with the rare autosomal dominant microcephaly‐lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X‐linked inheritance cannot be excluded. Am. J. Med. Genet. 80:506–509, 1998. © 1998 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/64FE25E62163035F73824C25865E85A91EFD818C/fulltext/pdf

DOI: 10.1002/(SICI)1096-8628(19981228)80:5<506::AID-AJMG13>3.0.CO;2-1

Links to Exploration step

ISTEX:64FE25E62163035F73824C25865E85A91EFD818C

Le document en format XML

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   |clé=     ISTEX:64FE25E62163035F73824C25865E85A91EFD818C
   |texte=   Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation
}}

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	Serveur d'exploration sur le lymphœdème
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Serveur d'exploration sur le lymphœdème

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

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