title: Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings.
abstract: Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral shortening and hypoplasia to the absence of any functional femur and acetabular aplasia. Prenatal diagnosis of PFFD is still a challenge, but early recognition of this malformation could provide useful information to both parents and physicians concerning management and therapeutic planning. For this review, we analyzed all the cases of prenatally diagnosed PFFD that were reported in the literature from 1990 to 2014 and provide a description of the most common prenatal sonographic findings.
authors.affiliation: Department of Experimental Medicine, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: D'Ambrosio
authors.affiliation: Department of Obstetrics, Gynecology and Urologic Sciences, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Gaia
authors.initials: G
authors.lastname: Pasquali
authors.affiliation: Department of Obstetrics, Gynecology and Urologic Sciences, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Antonia
authors.initials: A
authors.lastname: Squarcella
authors.affiliation: Department of Obstetrics, Gynecology and Urologic Sciences, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Marcoccia
authors.affiliation: Department of Obstetrics, Gynecology and Urologic Sciences, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: De Filippis
authors.affiliation: Department of Obstetrics, Gynecology and Urologic Sciences, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Gatto
authors.affiliation: Department of Obstetrics, Gynecology and Urologic Sciences, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Aliberti
authors.initials: A
authors.lastname: Camilla
authors.affiliation: Department of Experimental Medicine, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.affiliation: Department of Obstetrics, Gynecology and Urologic Sciences, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Renato
authors.initials: R
authors.lastname: La Torre
authors.affiliation: Department of Obstetrics, Gynecology and Urologic Sciences, University of Rome "Sapienza", Umberto I Hospital, Rome, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Giancotti
mesh_terms: D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000196:embryology; D003937:Diagnosis, Differential; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011379:Prognosis; D016216:Ultrasonography, Prenatal / Q000379:methods*
keywords: fetal ultrasonography; malformations; musculoskeletal; prenatal diagnosis; proximal focal femoral deficiency