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Related Experiment Videos

[Joubert's syndrome].

R F Buissonnière1, V Storni, O Robain

  • 1Service de Neurologie Infantile, Hôpital Saint-Vincent-de-Paul, Paris.

Annales De Pediatrie
|March 1, 1990
PubMed
Summary
This summary is machine-generated.

Joubert syndrome is a rare genetic disorder characterized by specific neurological and physical symptoms. Further research into peroxisomal function is suggested due to observed similarities with peroxisomal diseases.

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Joubert syndrome is a rare, autosomal recessive genetic disorder.
  • It presents in the neonatal period with severe psychomotor retardation, ataxia, abnormal eye movements, and characteristic breathing pattern abnormalities.
  • Distinctive neuroanatomical findings include cerebellar vermian agenesis and fourth ventricle dilatation.