Joubert syndrome is an autosomal recessive complex malformation of brain particularly involving the cerebellum and brain stem. Agenesis or dysgenesis of cerebellar vermis and the presence of "molar tooth sign" on axial magnetic resonance imaging are characteristically seen. The main clinical features include hypotonia, developmental delay, abnormal respiratory pattern of alternating episodic tachypnea, hyperpnea and apnea and oculomotor apraxia. We present clinical characteristics of five cases of Joubert syndrome with a review of literature.
- Joubert syndrome