title: Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases.
abstract: The objective of our article is to illustrate the earliest prenatal sonographic diagnosis of femoral-facial syndrome (FFS) and to illustrate the spectrum of clinical manifestations of this condition. We present serial sonographic evaluation with 3D evaluation in two fetuses diagnosed prenatally with FFS and the postnatal findings in three patients (one fetus following pregnancy interruption and two newborns one of whom was diagnosed prenatally) with FFS. The two patients with prenatally diagnosed FFS were found to have femoral shortening and characteristic facial features, one 12 weeks of gestation, and one at 15 weeks of gestation. The sonographic findings in the two prenatally diagnosed patients were confirmed after delivery. We also present a third patient who was diagnosed at delivery in whom the diagnosis was missed at a routine prenatal sonogram at 19 weeks of gestation. The patients reported herein expand the clinical spectrum of FFS. The utility of sonographic evaluation in diagnosis of the facial appearance and of the bony abnormalities in this condition is emphasized.
authors.affiliation: Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada. nowaczyk@hhsc.ca
authors.forename: M J M
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: M J
authors.initials: MJ
authors.lastname: Huggins
authors.forename: A
authors.initials: A
authors.lastname: Fleming
authors.forename: P T
authors.initials: PT
authors.lastname: Mohide
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000196:embryology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome