X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family.
This report describes a new syndrome of dysgenesis of corpus callosum with other anomalies, presenting as microcephaly, mental retardation, spasticity, and unusual facial appearance in 2 Chinese brothers and their maternal cousins. To date, there has not been any case reported in the Chinese population of this syndrome. All 4 patients in this report present with the same unusual face. Hydrocephalus and/or interhemispheric cyst were found among them. This syndrome is transmitted as an X-linked trait. The nosology is reviewed and discussed.
Kang
W M
WM
Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
Huang
C C
CC
Lin
S J
SJ
D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000601:surgery; D006972:Hypertelorism / Q000000981:diagnostic imaging; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal; D017287:Ventriculoperitoneal Shunt; D014960:X Chromosome