Abstract
Joubert syndrome (JS) is a rare autosomal recessive central nervous system malformation characterized by hypotonia, ataxia, abnormal psychomotor development and mental retardation, variable ophthalmologic features such as oculomotor apraxia and neonatal breathing abnormalities. Many patients die in infancy or childhood, but some survive into adulthood with variable cognitive and motor impairments. Radiographically it is characterized by “molar tooth sign” in MRI, includes cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa.
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