Maryam Aslam, Imaad Rehman


Rhombencephalosynapsis (RES) is a very rare congenital cerebellar anomaly with limited number of cases reported worldwide. It is characterised by partial or complete agenesis of cerebellar vermis with variable cerebellar hemisphere fusion. Resultant clinical presentation is highly variable ranging from delayed developmental milestones to cognitive and intellectual impairment. This article reports a case series of two child patients presenting with intellectual disability and delayed milestones.



Keywords: Rhombencephalosynapsis, fused cerebellum, intellectual disability.

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