F. Campbell et Gm. Vujanic, BILATERAL FEMORAL AGENESIS IN FEMORAL FACIAL SYNDROME IN A 19-WEEK-OLD FETUS, American journal of medical genetics, 72(3), 1997, pp. 315-318
Although the cause in most cases is unknown, there is a strong associa
tion of the femoral facial syndrome (FFS) with maternal diabetes melli
tus, We describe an unusual presentation of FFS in the first pregnancy
of a diabetic mother terminated at 19 weeks gestation because of bila
teral femoral agenesis diagnosed on ultrasound scan. Autopsy confirmed
the absence of the femora and acetabula and the presence of the facia
l traits of FFS in a female fetus. (C) 1997 Wiley-Liss, Inc.