Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.

Abstract

Cerebellar malformations feature a large number of syndromes of unknown etiology. A child with hypoplasia of the vermis and left cerebellar hemisphere, severe mental retardation and facial dysmorphism was initially diagnosed as suffering from 3C (Ritscher-Schinzel) syndrome. A deletion in chromosome 22q11 was subsequently demonstrated, establishing the diagnosis of velo-cardio-facial (Shprintzen) syndrome. This observation confirms the previous finding of cerebellar anomalies in Shprintzen syndrome, and suggests an overlap between the VCFS and 3C syndrome. Other signs of VCFS should be looked for in children with cerebellar malformation.