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PubMed · 7820905

[Joubert syndrome].

M De Jonghe·M Schroell·C Degremont-Weitzel
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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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Cerebellar AtaxiaCerebellumHumansInfantIntellectual DisabilityMaleOcular Motility DisordersRespiration DisordersSyndromeCase ReportsEnglish AbstractJournal Article

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M De Jonghe, M Schroell, C Degremont-Weitzel. 1994. [Joubert syndrome].. https://pubmed.ncbi.nlm.nih.gov/7820905/

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