The 3C syndrome: Evolution of the phenotype and growth hormone deficiency

The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinze l syndrome) is a recently delineated condition involving abnormalities of t he cranium (large head with prominent forehead), cerebellum (Dandy-Walker c yst and vermis hypoplasia), and cardiac (primarily septal) defects. At leas t 20 individuals with this condition have been reported in the past 11 year s. We report on a girl with the 3C syndrome who at 13 years of age is the o ldest patient reported to date. She has been followed since birth, allowing us to show the evolution of her phenotype over time. In addition, she has documented growth hormone deficiency. We suggest that growth hormone defici ency should be considered as a possible cause of the short stature often se en in this condition. Am. J. Med. Genet. 87:61-64, 1999. (C) 1999 Wiley-Lis s, Inc.