Joubert syndrome: a case confirmed by computerized tomography.
The authors report a new case of Joubert syndrome (agenesis of the cerebellar vermis, mental retardation, disturbance of respiratory rhythm, ataxia, abnormal eye-movements) and review the relevant literature on the other nine cases reported. The diagnosis in the present case was confirmed by computerized tomography. Early recognition of this syndrome is important in view of the prognosis and for genetic counseling.
D002531:Cerebellum / Q000002:abnormalities*; D005133:Eye Movements; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000000981:diagnostic imaging; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed