MRI findings in Joubert syndrome

Indian J Pediatr. 2009 Feb;76(2):231-5. doi: 10.1007/s12098-008-0232-1. Epub 2009 Jan 5.

Abstract

Joubert syndrome is a very rare autosomal recessive disorder with only 200 cases reported worldwide.Here we report 4 cases of this rare disorder with MRI findings.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / complications
  • Ataxia / genetics*
  • Cerebellum / abnormalities*
  • Child, Preschool
  • Chromosome Disorders / genetics
  • Developmental Disabilities / complications
  • Developmental Disabilities / genetics*
  • Humans
  • Infant
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging*
  • Male
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / genetics*
  • Oculomotor Nerve Diseases / complications
  • Oculomotor Nerve Diseases / genetics*
  • Respiration Disorders / complications
  • Respiration Disorders / genetics*
  • Syndrome