Joubert syndrome - A case report

Abstract

Joubert syndrome is a very rare malformation. It is estimated to affect between 1 in 80, 000 and 1 in 100, 000 newborns. Joubert syndrome is an autosomal recessive disorder marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. © Journal of Krishna Institute of Medical Sciences University.