Ullrich-Turner syndrome with agenesis of the corpus callosum.
We report on a 19-year-old woman with 45,X Ullrich-Turner syndrome who was severely mentally retarded and had hypotonia. Computer tomography (CT) scan showed agenesis of the corpus callosum. There have been few reports of gross developmental central nervous system (CNS) abnormalities in Ullrich-Turner syndrome. Only one case of Ullrich-Turner syndrome with agenesis of the corpus callosum has been reported. The high prenatal lethality of Ullrich-Turner syndrome may mask a CNS abnormality.
Kimura
M
M
Department of Pediatrics, National Sanatorium Nishi-Tottori Hospital, Japan.
Nakajima
M
M
Yoshino
K
K
D000015:Abnormalities, Multiple; D000328:Adult; D061085:Agenesis of Corpus Callosum; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D009634:Noonan Syndrome