✦ LIBER ✦

Weaver syndrome in two Japanese children

✍ Scribed by Kondo, Ikuko ;Mori, Yuhko ;Kuwajima, Katsuko

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 374 KB
Volume: 41
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320410218

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✦ Synopsis

Abstract

We report on 2 Japanese patients (a 3‐year‐old girl and an 20‐month‐old boy) with the Weaver syndrome. The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed nasal bridge, accentuated philtrum, micrognathia and large ears, and unique behavior characteristics with some social withdrawal. The nosology of the Weaver and Simpson–Golabi–Behmel syndromes is discussed.

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