LymphedemaV1, France, Analysis, bibRecord, 000719

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

Identifieur interne : 000719 ( France/Analysis ); précédent : 000718; suivant : 000720

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

Auteurs : André Mégarbané [Liban, France] ; Naji Waked [Liban] ; Eliane Chouery [Liban] ; Yolla Bou Moglabey [Liban] ; Nagib Saliba [Liban] ; Etienne Mornet [France] ; Jean-Louis Serre [France] ; Rima Slim [Liban]

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 2001-01-22.

RBID : ISTEX:3B7F909A3174D79599B9427B6BEA1D72EF08AD9B

Abstract

We describe the cases of two brothers with microcephaly, primary cutis verticis gyrata of the scalp, prominent supraorbital ridges, large nose, hypertelorism, exotropia, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, kyphoscoliosis, and mental retardation. A review of the literature focusing on the major clinical findings suggests that our cases may represent a hitherto unreported new syndrome. © 2001 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/3B7F909A3174D79599B9427B6BEA1D72EF08AD9B/fulltext/pdf

DOI: 10.1002/1096-8628(20010122)98:3<244::AID-AJMG1084>3.0.CO;2-W

Affiliations:

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

to stream Istex, to step Corpus: 001B19
to stream Istex, to step Curation: 001B19
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to stream Main, to step Merge: 00A297
to stream Main, to step Curation: 009E44
to stream Main, to step Exploration: 009E44
to stream France, to step Extraction: 000719

Links to Exploration step

ISTEX:3B7F909A3174D79599B9427B6BEA1D72EF08AD9B

Le document en format XML

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<front><div type="abstract" xml:lang="en">We describe the cases of two brothers with microcephaly, primary cutis verticis gyrata of the scalp, prominent supraorbital ridges, large nose, hypertelorism, exotropia, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, kyphoscoliosis, and mental retardation. A review of the literature focusing on the major clinical findings suggests that our cases may represent a hitherto unreported new syndrome. © 2001 Wiley‐Liss, Inc.</div>
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Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

Source :

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