Development and dysmorphism in Joubert syndrome--short case series from India

Five children with Joubert syndrome (JS), who fulfilled the criteria and had molar tooth sign (MTS) on magnetic resonance imaging were included in the study. Prominent forehead, open mouth and low set ears were consistent facial features. Severe developmental delay was seen in three children (66%). A differential developmental delay was noticed in all children and was independent of the radiological features. The children who had complications in the neonatal period were found to have more developmental delay on follow-up. The optimal control of sleep disturbances and hyperkinesis in one child resulted in a better cognitive performance. A regular neuro-developmental follow-up and interventions can optimize the potential of children with JS. In addition to the regular screening for retinal, renal and hepatic functions in JS, there is a need to monitor cognitive functions, sleep and behavior.