Joubert syndrome: an affected female with bilateral colobomata

Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report the clinical and pathological findings of a 15-year-old girl with Joubert syndrome diagnosed at autopsy. This patient had bilateral colobomata, which has not been previously described in females with Joubert syndrome.