title: [Femoral hypoplasia--unusual facies syndrome].
abstract: We report a new case of femoral hypoplasia-unusual facies syndrome (FH-UFS). A review of the literature disclosed fifty-five previously published cases. Both boys and girls can be affected. The syndrome includes bilateral femoral hypoplasia; facial dysmorphism with a cleft palate, micrognathia, a long philtrum, a thin upper lip, and a short broad-tipped nose; dysplasia of the hips; and hypoplasia of the fibulae. Other malformations may be found, including skeletal defects and visceral (especially cardiovascular and genitourinary) abnormalities. Etiopathogenesis of this syndrome remains unknown. Some investigators have suggested a link between the FH-UFS and caudal dysplasia in infants born to diabetic mothers.
authors.forename: M
authors.initials: M
authors.lastname: Trabelsi
authors.forename: K
authors.initials: K
authors.lastname: Monastiri
authors.forename: A
authors.initials: A
authors.lastname: Hammami
authors.forename: C
authors.initials: C
authors.lastname: Touzi
authors.forename: M
authors.initials: M
authors.lastname: Ben Hariz
authors.forename: H A
authors.initials: HA
authors.lastname: Gharbi
authors.forename: B
authors.initials: B
authors.lastname: Bennaceur
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000473:pathology; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D008297:Male; D011859:Radiography; D013577:Syndrome
vernacular_title: Hypoplasie fémorale avec dysmorphie faciale. A propos d'une nouvelle observation.