Femoral‐facial syndrome–prenatal diagnosis–autosomal dominant inheritance

Abstract

Fetal micrognathia and short, bowed femora were found on a routine prenatal ultrasonogram. At birth, a cleft palate and the characteristic facial appearance confirmed the diagnosis of the femoral-facial syndrome. (The femoral-facial syndrome [McKusick 137840] was first delineated by Daentl et al. [1975: J Pediatr 86:197-211] and called the "femoral hypoplasia-unusual facies syndrome." We prefer the "femoral-facial syndrome" because it is shorter, more easily translated, and because the McKusick catalog is the most widely recognized standard of nomenclature.) A paternal great uncle, deceased at age 4 years, seems to have had the same condition.