3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome

Abstract

We report on two cases of 3C (cranio-cerebello-cardiac) syndrome. At least five previous cases are known. This recently delineated malformation syndrome is characterized by congenital anomalies of the skull, hindbrain, and heart. The anomalies include a high and prominent forehead, a hypoplastic vermis and posterior fossa cyst with or without hydrocephalus, and an atrial or atrio-ventricular septal defect with or without other heart anomalies. Most patients show a postnatal growth retardation, as well as a mild to moderate psychomotor retardation. Early death is usually in association with severe congenital heart defect. Aside from two affected sisters, the other reported cases (four girls and one boy) are sporadic cases; thus, a possible genetic nature and inheritance mode remain uncertain. Nonetheless, the possibility of an autosomal recessive mode of inheritance should be considered in the genetic counselling.