Weaver syndrome in two Japanese children.
作者信息
Kondo I, Mori Y, Kuwajima K
机构信息
Department of Human Ecology, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
出版信息
Am J Med Genet. 1991 Nov 1;41(2):221-4. doi: 10.1002/ajmg.1320410218.
PMID:1785638
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.
摘要
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