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2005-11-29-13 Femoral - facial syndrome © Cuillier

Femoral - facial syndrome

Cuillier F, MD*, Carasset G. MD**, Lemaire P, MD$, Deshayes M, MD$, Alessandri JL, MD#

* Department of Gynecology, Félix Guyon’ Hospital, Ile de la Réunion, France
** Gynecologist, Sainte-Clothilde clinic,IIe de la Réunion, France. 
$ Sonogapher, Moufia’ street, Ile de la Réunion, France.
# Department of Neonatology, Félix Guyon’Hospital, Ile de la Réunion, France.


Synonyms: Femoral hypoplasia - unusual facies syndrome

The increased risk for birth defects among infants of insulin-dependant diabetic mothers is well established. Infants of women who have insulin-dependant diabetes mellitus throughout pregnancy have a two or three times greater risk of congenital anomalies than infants in the general population. Among the congenital anomalies associated with maternal diabetes, heart disease and spine bifida are most common. Caudal regression and focal femoral hypoplasia are most distinctive but exceptional. 

We describe a case of prenatal diagnosis of bilateral proximal focal deficiency with left bowing femur in a diabetic woman. 

Case report

A 36-year-old woman, gravid 5, para 4 (four health children), was referred to our high-risk obstetric clinic at 26 weeks gestation to evaluate the fetal bones me