title: Agenesis of the corpus callosum in Turner's syndrome: report of a case and review of the literature.
abstract: Turner's syndrome (TS) is a genetic disorder caused by loss of entire or a substantial part of the X-chromosome, but association with central nervous system (CNS) abnormalities is rarely reported. A 32-year-old female with TS was found to have agenesis of the corpus callosum (ACC) and various clinical features including coarctation of aorta, hypertelorism, small jaw, short and webbed neck, cubitus valgus, and absence of the uterus. Karyotype analysis revealed X monosomy cell line (45, X). There have been only three other cases of TS associated with ACC. High prenatal lethality of TS fetuses with congenital CNS malformations may decrease the incidence of this association. Neuropsychological studies showed a normal intelligence neither prominent learning disability nor discrepancy between verbal and non-verbal items.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Taipei, Taiwan.
authors.forename: Ying-Ying
authors.initials: YY
authors.lastname: Lee
authors.forename: June
authors.initials: J
authors.lastname: Hung
authors.forename: Ting-Yu
authors.initials: TY
authors.lastname: Chang
authors.forename: Chin-Chang
authors.initials: CC
authors.lastname: Huang
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D014424:Turner Syndrome / Q000473:pathology*