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.
Filly
Anthony L
AL
Department of Radiology, University of California, San Francisco, 505 Parnassus Ave, L-374, San Francisco, California 94143-0628, USA. roy.filly@radiology.ucsf.edu
Robnett-Filly
Barbara
B
Filly
Roy A
RA
D000328:Adult; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal