Joubert Syndrome: A Case Report
Journal Title: Nepal Journal of Neuroscience - Year 2018, Vol 15, Issue 1
Abstract
Joubert syndrome (JS) isa rare autosomal recessive neurodevelopmental disorder involving cerebellarvermis and brainstem,marked byagenesis of cerebellar vermis, ataxia, hypotonia,oculomotor apraxia, neonatal breathingproblems and mental retardation. Magnetic Resonance Imaging (MRI) revealsthe characteristic Molar tooth sign of midbrain and Batwing appearance of rostral fourthventricle.
Authors and Affiliations
Dr. Gopal Sedain
Keywords
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