Syndromes with focal femoral deficiency: strengths and weaknesses of prenatal sonography.

OBJECTIVE

To further characterize the prenatal diagnosis of proximal focal femoral deficiency and to contrast this entity with a variety of other "syndromes" in which the femur may be deficient.

METHODS

We report 2 cases of proximal focal femoral deficiency and a case of femoral-facial syndrome.

RESULTS

A series of 3 women whose fetuses had deficiency of 1 or both femurs were carefully analyzed for severity and for similarities and differences with other syndromes in which the femur may be deficient, as well as syndromes showing global skeletal abnormalities.

CONCLUSIONS

Prenatal sonography is a valuable tool both for detecting cases of proximal focal femoral deficiency, separating them from syndromes showing global skeletal abnormalities, and for stratifying them according to severity.