Fetal ultrasound: Early diagnosis and natural evolution of proximal femoral focal deficiency

Eugenio O. Gerscovich, Simran Sekhon, Thomas W. Loehfelm, Adam Greenspan

Affiliation and address for correspondence
J Ultrason 2017; 17: 294–298
DOI: 10.15557/JoU.2017.0043

Proximal femoral focal deficiency is an extremely rare congenital anomaly with only a few case reports in the literature. This case illustrates one diagnosed by prenatal ultrasound. The diagnosis may be isolated or associated with other abnormalities and syndromes. This report describes the early obstetrical ultrasound diagnosis, its evolution and associated findings throughout pregnancy. To the best of our knowledge, it is the first report associating this diagnosis with sickle cell trait. Another finding in our patient was a concomitant intrauterine growth restriction that we attribute to placental infarctions and a retro placental hemorrhage, also on the basis of sickle cell trait. At birth, placental weight was under the 10th percentile for gestational age. Obstetrical ultrasound in the prenatal diagnosis of proximal femoral focal deficiency is important, because early recognition of this malformation could provide useful information to parents and physicians regarding newborn management and therapeutic planning.

fetus, ultrasound, skeletal dysplasia, proximal focal femoral deficiency