title: Autopsy, radiographic, and prenatal ultrasonographic examination of a stillborn fetus with femoral facial syndrome.
abstract: Femoral facial syndrome (FFS) is comprised of cleft palate, micrognathia, short or absent femora, and vertebral and genitourinary malformations. We report on a stillborn fetus with FFS delivered to a mother with gestational diabetes. Prenatal ultrasound examination showed abnormalities at 21 weeks of gestation; prior ultrasound findings were interpreted as normal. Long bone histology showed disorganization of the growth plate with a relative decrease in cartilaginous matrix and vacuolization and binucleation of the chondrocytes.
authors.affiliation: Department of Pathology, The University of Texas Southwestern Medical School, Dallas, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Urban
authors.forename: R M
authors.initials: RM
authors.lastname: Ramus
authors.forename: M W
authors.initials: MW
authors.lastname: Stannard
authors.forename: B B
authors.initials: BB
authors.lastname: Rogers
mesh_terms: D000328:Adult; D001344:Autopsy; D002972:Cleft Palate / Q000473:pathology; D016640:Diabetes, Gestational / Q000150:complications; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005313:Fetal Death / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011859:Radiography; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D016216:Ultrasonography, Prenatal