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[Joubert's syndrome. Apropos of 5 cases].

作者信息

Aicardi J, Castello-Branco M E, Roy C

出版信息

Arch Fr Pediatr. 1983 Oct;40(8):625-9.

PMID:6651451
Abstract

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.

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