Macrosomia, unusual facies, and early developmental delay

We present two unrelated females who were large for gestational age with macrocephaly and congenital hypotonia. Both have a distinctive facial appearance with very wide broad cheeks, hypertelorism, flat nasal bridge, and cardiac and vertebral anomalies. Psychomotor development, initially delayed, has improved with age so that the older patient functions in the borderline range. Both fathers have facial features resembling that of their daughters.