MRI findings in Joubert syndrome.

Choh, Suhil A; Choh, Naseer A; Bhat, Shabir A; Jehangir, Majid

Choh, Suhil A; Choh, Naseer A; Bhat, Shabir A; Jehangir, Majid.

Indian J Pediatr ; 2009 Feb; 76(2): 231-5

Article in English | IMSEAR | ID: sea-82057

ABSTRACT

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.

Subject(s)

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

Fulltext

XML

Search on Google

Full text: Available Index: IMSEAR (South-East Asia) Main subject: Respiration Disorders / Ataxia / Syndrome / Humans / Male / Magnetic Resonance Imaging / Oculomotor Nerve Diseases / Cerebellum / Developmental Disabilities / Child, Preschool Type of study: Diagnostic study Language: English Journal: Indian J Pediatr Year: 2009 Type: Article

Similar

MEDLINE

LILACS

LIS

Fulltext

XML

Search on Google