title: The Joubert syndrome associated with bilateral chorioretinal coloboma.
abstract: A case of the Joubert Syndrome is reported. This syndrome, of which 11 cases have hitherto been described, is characterized by aplasia of the cerebellar vermis in addition to episodic hyperpnoea, abnormal eye movements, rhythmic protrusion of the tongue, ataxia, and mental retardation. The diagnosis was made by the clinical symptoms, computerized axial tomography of the brain, and lumbar pneumencephalography. Bilateral typical colobomata of retina and choroid were an additional anomaly, described for the first time in association with the Joubert Syndrome. The possible relationship between the ocular and cerebral anomalies is discussed.
mesh_terms: D001259:Ataxia / Q000209:etiology; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000150:complications*; D006801:Humans; D006985:Hyperventilation / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D011011:Pneumoencephalography; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed