Aicardi J, Castello-Branco M E, Roy C
Arch Fr Pediatr. 1983 Oct;40(8):625-9.
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.