Joubert syndrome is an autosomal recessive syndrome characterized by brain malformations like hypoplasia of cerebellar vermis and brainstem abnormalities.

The classical MRI finding is described as "Inverted Molar Tooth sign"

Joubert Syndrome, a rare genetic disorder affecting 1 in 100,000 births. This informative video explains:


- Causes and genetic mutations
- Characteristic brain malformations (cerebellar vermis hypoplasia)
- Typical symptoms:
- Developmental delays
- Coordination and balance issues
- Vision problems
- Breathing difficulties
- Kidney and liver abnormalities
- Diagnosis methods (MRI, genetic testing) described as " Inverted Molar Tooth sign"
Findings in this case:

Batwing appearance of fourth ventricle with prominent thickened elongated superior cerebellar peduncles giving a characteristic Molar Tooth appearance and hypoplastic cerebellar vermis associated with diffusely abnormal foliation and fissuring of both cerebellar hemispheres.


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