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  • Title: [Joubert syndrome].
    Author: De Jonghe M, Schroell M, Degremont-Weitzel C.
    Journal: Bull Soc Sci Med Grand Duche Luxemb; 1994; 131(2):19-23. PubMed ID: 7820905.
    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.
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