MRI findings in Joubert syndrome.
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.
Choh
Suhil A
SA
Department of Pediatrics & Neonatology SKIMS, Srinagar, India. suhilchoh@rediffmail.com
Choh
Naseer A
NA
Bhat
Shabir A
SA
Jehangir
Majid
M
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