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Syndromes With Focal Femoral Deficiency

Strengths and Weaknesses of Prenatal Sonography

Department of Radiology, University of California, San Francisco, San Francisco, California USA.

Address correspondence and reprint requests to Roy A. Filly, MD, Department of Radiology, University of California, San Francisco, 505 Parnassus Ave, L-374, San Francisco, California 94143-0628 USA. E-mail: roy.filly{at}radiology.ucsf.edu.

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.

Key Words: obstetric sonography • prenatal diagnosis • proximal focal femoral deficiency • skeletal dysplasia

Abbreviations: PFFD, proximal focal femoral deficiency