3C (CRANIO-CEREBELLO-CARDIAC) SYNDROME - A RECENTLY DELINEATED AND EASILY RECOGNIZABLE CONGENITAL-MALFORMATION SYNDROME

We report on two cases of 3C (craniocerebello-cardiac) syndrome. At le ast five previous cases are known. This recently delineated malformati on syndrome is characterized by congenital anomalies of the skull, hin dbrain, and heart. The anomalies include a high and prominent forehead , a hypoplastic vermis and posterior fossa cyst with or without hydroc ephalus, and an atrial or atrio-ventricular septal defect with or with out other heart anomalies. Most patients show a postnatal growth retar dation, as well as a mild to moderate psychomotor retardation. Early d eath is usually in association with severe congenital heart defect. As ide from two affected sisters, the other reported cases (four girls an d one boy) are sporadic cases; thus, a possible genetic nature and inh eritance mode remain uncertain. Nonetheless, the possibility of an aut osomal recessive mode of inheritance should be considered in the genet ic counselling. (C) 1994 Wiley-Liss, Inc.