[Joubert syndrome].
Joubert's syndrome is clinically characterized by attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, psychomotor retardation, and ataxia. Anatomic anomalies include cerebellar vermis agenesis with dilatation of the fourth ventricle. It is an autosomal recessive disorder; onset is in the neonatal period and prognosis is severe.
De Jonghe
M
M
Centre Hospitalier, Clinique Pédiatrique, Néonatologie, Luxembourg.
Schroell
M
M
Degremont-Weitzel
C
C
D002524:Cerebellar Ataxia / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D015835:Ocular Motility Disorders / Q000473:pathology*; D012120:Respiration Disorders / Q000473:pathology*; D013577:Syndrome
Le syndrome de Joubert.