title: Bilateral femoral agenesis in femoral facial syndrome in a 19-week-old fetus.
abstract: Although the cause in most cases is unknown, there is a strong association of the femoral facial syndrome (FFS) with maternal diabetes mellitus. We describe an unusual presentation of FFS in the first pregnancy of a diabetic mother terminated at 19 weeks gestation because of bilateral femoral agenesis diagnosed on ultrasound scan. Autopsy confirmed the absence of the femora and acetabula and the presence of the facial traits of FFS in a female fetus.
authors.affiliation: Department of Histopathology, University of Wales College of Medicine, Cardiff, United Kingdom.
authors.forename: F
authors.initials: F
authors.lastname: Campbell
authors.forename: G M
authors.initials: GM
authors.lastname: Vujanić
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000196:embryology* / Q000473:pathology; D000028:Abortion, Induced; D000328:Adult; D003922:Diabetes Mellitus, Type 1; D005145:Face / Q000002:abnormalities* / Q000196:embryology; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000196:embryology; D005313:Fetal Death; D005333:Fetus / Q000002:abnormalities*; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D011296:Prenatal Diagnosis