DOI: 10.36347/sjmcr.2017.v05i10.018

Pages: 666-668

Joubert syndrome is a very rare malformation. It is an uncommon autosomal recessive neurodevelopmental disorder involving cerebellar vermis and brain stem. 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. We report a 12 month-old girl who presented with developmental delay, failure to thrive, decrease vision and abnormal eye moments. On examination decreased muscle tone, nystagmus, and gait ataxia is present.