| Literature DB >> 7820905 |
M De Jonghe1, M Schroell, C Degremont-Weitzel.
Abstract
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.Entities:
Mesh:
Year: 1994 PMID: 7820905
Source DB: PubMed Journal: Bull Soc Sci Med Grand Duche Luxemb ISSN: 0037-9247