Joubert syndrome

Nurs Child Young People. 2017 Jun 12;29(5):15. doi: 10.7748/ncyp.29.5.15.s19.

Abstract

Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / therapy*
  • Cerebellum / abnormalities*
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / genetics
  • Eye Abnormalities / therapy*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Kidney Diseases, Cystic / diagnosis*
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / therapy*
  • Retina / abnormalities*

Supplementary concepts

  • Agenesis of Cerebellar Vermis