Femoral‐facial syndrome–prenatal diagnosis–autosomal dominant inheritance

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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 fa‐cies 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.