| Literature DB >> 6651451 |
J Aicardi, M E Castello-Branco, C Roy.
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.Entities:
Mesh:
Year: 1983 PMID: 6651451
Source DB: PubMed Journal: Arch Fr Pediatr ISSN: 0003-9764