Rubinstein-Taybi syndrome: cranial MR imaging findings.
Rubinstein-Taybi syndrome is a syndrome of mental retardation associated with broad thumbs and big toes. The patients have a characteristic flat face with a beaked nose. This paper deals with brain changes in a patient with this syndrome, studied by MR imaging, which mainly consist of bilateral rolandic cortical clefts and diminished white matter, which probably account for mental retardation.
Sener
R N
RN
Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D019066:Facies; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability; D008279:Magnetic Resonance Imaging; D008297:Male; D010296:Parietal Lobe / Q000473:pathology; D012415:Rubinstein-Taybi Syndrome / Q000473:pathology*