[Femoral hypoplasia--unusual facies syndrome].
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.
Trabelsi
M
M
Monastiri
K
K
Hammami
A
A
Touzi
C
C
Ben Hariz
M
M
Gharbi
H A
HA
Bennaceur
B
B
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
Hypoplasie fémorale avec dysmorphie faciale. A propos d'une nouvelle observation.