A Japanese male infant with the Weaver syndrome.
A 15-month-old male infant who had pre- and postnatal overgrowth, accelerated bone maturation and characteristic facial appearance was described. Although a Japanese female with Weaver syndrome previously reported had slightly different clinical manifestations from others, our patient had typical clinical features of Weaver syndrome. We suggest that a genetic mutation of the syndrome may be the same in Japanese as other ethnic groups and that Weaver syndrome may be an autosomal dominant disorder with variable expressions.
Kondo
I
I
Department of Human Ecology and Genetics, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
Mori
Y
Y
Kuwajima
K
K
D001848:Bone Diseases, Developmental / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome