title: MRI findings in Joubert syndrome.
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.
authors.affiliation: Department of Pediatrics & Neonatology SKIMS, Srinagar, India. suhilchoh@rediffmail.com
authors.forename: Suhil A
authors.initials: SA
authors.lastname: Choh
authors.forename: Naseer A
authors.initials: NA
authors.lastname: Choh
authors.forename: Shabir A
authors.initials: SA
authors.lastname: Bhat
authors.forename: Majid
authors.initials: M
authors.lastname: Jehangir
mesh_terms: D001259:Ataxia / Q000150:complications / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000235:genetics*; D015840:Oculomotor Nerve Diseases / Q000150:complications / Q000235:genetics*; D012120:Respiration Disorders / Q000150:complications / Q000235:genetics*; D013577:Syndrome