Lethal Faciocardiomelic Dysplasia

An extremely rare polymalformative syndrome.

Epidemiology

It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents.

Clinical description

Patients 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 malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life.