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

Abstract

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.

Proximal femoral focal deficiency – a rare congenital entity: two case reports and a review of the literature

“…There are known risk factors for PFFD. Some of the inciting teratogenic agents for PFFD are hypoxia, ischemia, diabetes mellitus, irradiation, microbiological agents, chemical toxicities, hormones, mechanical injuries, thermal injuries, thalidomide exposure, and trauma to the fetus between the fourth and eighth weeks of gestation [2,3]. Interestingly, none of these agents could be linked to either of our index patients or their mothers.…”

“…PFFD, as mentioned earlier, is an extremely rare congenital anomaly with few case reports in the literature [2]. Therefore, for us to have two cases in a short period of less than half a year merits documentation and inclusion in existing literatures.…”

“…The variance in spectra is anchored pathogenetically on failure of formation. PFFD is a failure of formation that is based on sclerotome subtraction theory (early damage of the neural crests of L4, L5) with defective chondrocyte proliferation and maturation in the proximal femoral growth plate [2].…”

“…PFFD is also known as congenital proximal femoral deficiency (CPFD) [1]. It is a rare congenital anomaly with an incidence of 1.1-2.0 in 100,000 live births [2][3][4][5]. PFFD has a female bias with a male-to-female ratio of 1:2 [6].…”

“…PFFD has a female bias with a male-to-female ratio of 1:2 [6]. Most cases of PFFD are unilateral (85-90%); PFFD is rarely bilateral [2,7]. When unilateral, the right femur is the most frequent culprit [6].…”