[Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)].
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X), which was first reported by Wilkie, et al. in 1991, is a disorder with severe mental retardation, characteristic facial appearance, genital abnormalities, and mild form of alpha-thalassemia. At present, about 50 cases have been reported in the world, but few in Japan. We report 3 cases of this disorder in 2 families. All cases prefer a peculiar posture and show unique movements, such as self-induced vomiting or self-hanging, which can be diagnostic. ATR-X should be considered as a differential diagnosis in all male patients with severe mental retardation.
Wada
T
T
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo.
Nakamura
M
M
Matsushita
Y
Y
Yamada
M
M
Yamashita
S
S
Iwamoto
H
H
Masuno
M
M
Imaizumi
K
K
Kuroki
Y
Y
D002648:Child; D019066:Facies; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012730:Sex Chromosomes; D013577:Syndrome; D017085:alpha-Thalassemia / Q000235:genetics*