[Acrocallosal syndrome--an autopsy case report and literature review].
This is an autopsy report of a female neonate with acrocallosal syndrome, which shows developmental retardation, callosal dysgenesis and preaxial hemimelia of the upper limbs. Either dysgenesis or corpus callosum or congenital absence of radius is rare; their combination are even rarer and only eleven cases of acrocallosal syndrome have been reported in the English literature. Our case appears to be the first report in Taiwan. The family history and pregnant course were unremarkable except that her mother had taken Chinese herb medicine for common cold in the 4th pregnant month. Prenatal obstetric sonography showed "ventriculomegaly" at the 31st week. We reviewed the literature and discussed the incidence, embryology, pathogenesis, symptoms as well as etiology concerning this rare syndrome.
Li
J W
JW
Department of Pathology, Veterans General Hospital-Taipei, R.O.C.
Ho
D M
DM
Liu
H C
HC
D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome