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Joubert's Syndrome-MRI

Abnormal foliation/fissures in cerebellar hemisphere with aplastic cerebellar vermis.  Fourth ventricle is enlarged and deformed (batwing like configuration). Superior cerebellar peduncles are oriented parallel and deep interpeduncular  fossa, in a molar tooth like fashion.

These findings are suggestive Joubert's syndrome.

Joubert anomaly, also known as molar tooth midbrain-hindbrain malformation, is an autosomal recessive disorder. It is named after the French neurologist: Marie Joubert who first described the condition.

Joubert's Syndrome-MRI Reviewed by Sumer Sethi on Friday, February 26, 2016 Rating: 5

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