Weaver syndrome in two Japanese children.
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.
Kondo
I
I
Department of Human Ecology, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
Mori
Y
Y
Kuwajima
K
K
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics* / Q000523:psychology; D000365:Age Determination by Skeleton; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000145:classification / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology; D008297:Male; D012792:Shyness; D013577:Syndrome