Joubert Syndrome - A Case Report

Abstract

Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation.

Keywords

• Joubert Syndrome
• JSRD
• Agen- esis of Cerebellar Vermis
• Molar Tooth Sign