Presentation
Presented with global developmental delay.
Patient Data
Age: 1 year
Gender: Female
From the case:
Joubert syndrome
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Superior cerebellar peduncles are thickened and elongated giving the appearance of molar tooth associated with hypoplastic cerebellar vermis with batwing appearance of 4th ventricle.
Case Discussion
Findings are characteristic of Joubert syndrome, with molar tooth sign of midbrain.
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