Presentation
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Patient Data
Age: Child
From the case:
Joubert syndrome
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Info
Selected images from an MRI of the brain demonstrates absence of the cerebellar vermis, with apposition (but no fusion) of the cerebellar hemispheres. The fourth ventricle has a bat-wing configuration, and the elongated superior cerebellar peduncles give the midbrain a characteristic molar-tooth shape.
Case Discussion
Findings are characteristic of Joubert syndrome.
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