Joubert Syndrome: A Report of Three Cases

Abstract

joubert syndrome is a rare autosomal- recessive condition characterized by dysgenesisof the cerebellar vermis, hypotonia, ataxia, abnormal eye movements, mentol retardation,hyperpnea and apnea. Three children, two males and one female, with the diagnosis of Joubert syndrome by the clinical and radiological findings are reported. All patients had severe developmental delay, hypotonia, nystagmus and radiologic evidence of dysgenesis of the cerebellar vermis. One patient had a characteristic facial appearanceand the other patient had the hystory ofa respiratory pattern of alternating tachypnea and apnea at two months of his age. İn this article, the cases were discussed inthe view of literature.