Prenatal diagnosis of Joubert’s syndrome overlapping with Dandy–Walker malformation on fetal MRI

Abstract

Magnetic resonance imaging (MRI) of the fetal brain plays an important role in the confirmation of congenital malformations diagnosed on ultrasound. It also helps in additionally detecting various associated central nervous system and other systemic abnormalities. We report a rare case of Joubert’s syndrome overlapping with Dandy– Walker malformation (DWM), antenatally detected by fetal MRI whose findings were confirmed on post-natal MRI scan. Prenatal diagnosis of such an association is important in predicting the neurodevelopmental outcome of the child, and for genetic counseling of the parents, as Joubert’s syndrome has a poorer prognosis, and a higher rate of recurrence than DWM.