[Joubert's syndrome. Apropos of 5 cases].
Five cases of Joubert syndrome in 2 consanguineous sibships are reported. The characteristic polypnea and respiratory pauses were recorded polygraphically during both active and quiet sleep in 2 infants and only in active sleep in another one. Tapetoretinal degeneration was found in both sibships and a chorioretinal coloboma in the 2 affected infants of the second family. The CT scan images in the syndrome and its differential diagnosis are discussed.
D002524:Cerebellar Ataxia / Q000235:genetics; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics; D003241:Consanguinity; D005133:Eye Movements; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012120:Respiration Disorders / Q000235:genetics*; D012160:Retina / Q000002:abnormalities; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Le syndrome de Joubert. A propos de cinq observations.