|
|
Joubert syndrome is frequently associated with developmental delay and mental retardation, neonatal
tachypnea and apnea, abnormal eye movements, and ataxia. It is inherited by an autosomal recessive
trait.
The most significant and constant neuropathological finding is partial or total agenesis of cerebellar
vermis. Absence of the vermis results in a triangular-shaped mid-fourth ventricle and a "bat-wing" shaped fourth ventricle superiorly. The superior cerebellar peduncles... |
