Literature DB >> 7820905

[Joubert syndrome].

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.

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Year:  1994        PMID: 7820905

Source DB:  PubMed          Journal:  Bull Soc Sci Med Grand Duche Luxemb        ISSN: 0037-9247


  1 in total

1.  Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report.

Authors:  Rosa Peraita-Adrados
Journal:  Nat Sci Sleep       Date:  2022-08-26
  1 in total

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