Search :     
Articles » Skeletal » Proximal femoral deficiency syndromes » Femoral - facial syndrome

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 measurements. Before her fifth pregnancy, she negliged her diabetes mellitus. There was no history of prenatal teratogen exposure, drug ingestion, infection or other conditions that could be associated with malformation.

During the first trimester, the nuchal translucency measure and the triple test were normal. The second scan was only performed at 26 weeks gestation. The long bones were all short and then the patient was referred to our unit. We confirmed the anomaly. There were no bone fractures. The head was not macrocephalic. The profil showed micrognathia. The femurs were short bilaterally and the left one was curved. Measurement of all long bones were all bellow the 3rd percentile. There was no clubbed foot. No other associated structural abnormalities were observed. The placenta was hyperechoic.  All serologic screenings were negative (CMV, Herpes, MNI, Parvovirus).

During the pregnancy, patient’s blood pressure was normal and blood glucose was measured periodically (Levels glucose = 2g/l). The patient was treated with insulin in the end of the pregnancy. Subsequent ultrasound examination at 29 and 31 weeks showed lagging in all long bones, but fetal surveillance remained reactive. A spiral scan was performed but was not contributive. The sex is feminin. The last sonography was done at 37 weeks.

At 38 weeks, she delivered a female infant weighing 2400 g (Apgar scores at one and five minutes were 10 and 10 respectively). The infant showed bilateral short long bones (right and left femur). A Pediatric Orthopedic consultation confirmed the left bowing