title: [Joubert syndrome. Study of a new case and review of the literature].
abstract: A two-year old male affected by Joubert Syndrome (cerebellar vermix agenesis, mental retardation, respiratory rythm disturbs, ataxia and abnormal eye movements) is reported. A review of literature of fourteen previous cases is done. Early diagnosis of this syndrome is very important for later prognosic and genetic advice. Authors point out the usefulness of CT scan for diagnosis.
mesh_terms: D002524:Cerebellar Ataxia / Q000150:complications*; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications; D009759:Nystagmus, Pathologic / Q000150:complications; D012120:Respiration Disorders / Q000150:complications*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
vernacular_title: Síndrome de Joubert. Estudio de un nuevo caso y revisión de la literatura.