Faciocardiomelic Dysplasia, Lethal

Cantu et al. (1975) reported 3 affected males in a sibship of 13, from second-cousin parents, who had what the authors termed lethal faciocardiomelic dysplasia. They were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe cardiac malformation which may have been responsible for death of all 3 in the first week or so of life.