Variability of outcome in Joubert syndrome.
Two children with Joubert syndrome are reported. Patient one is the first case with Joubert syndrome where CT-findings are confirmed by autopsy. Until now only three cases with necropsy findings were reported. Patient two shows a remarkable clinical outcome not previously mentioned.
D002531:Cerebellum / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006985:Hyperventilation / Q000175:diagnosis*; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis*; D011379:Prognosis; D013577:Syndrome