Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings

Abstract

Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral shortening and hypoplasia to the absence of any functional femur and acetabular aplasia. Prenatal diagnosis of PFFD is still a challenge, but early recognition of this malformation could provide useful information to both parents and physicians concerning management and therapeutic planning. For this review, we analyzed all the cases of prenatally diagnosed PFFD that were reported in the literature from 1990 to 2014 and provide a description of the most common prenatal sonographic findings.

Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology

“…17–19 The first PFFD case, reported in 1974 by Kelly, delineated a deformity of the right leg of an infant. 20 The classification of PFFD was described by Torode and Gillespie in 1991.…”

“…17 Surgical approaches vary depending on the individual case, including Van Ness rotationplasty, Torode-Gillespie rotationplasty, the knee fusion technique of King, and Syme’s amputation technique. 19 The etiology of PFFD remains unclear. However, some hypotheses have been proposed, such as abnormal neural crest development, defects in chondrocyte maturation, teratogen exposure, such as thalidomide and misoprostol, poorly controlled diabetes, viral infection, radiation exposure, and focal ischemia.…”

“…PFFD is a musculoskeletal malformation in the proximal portion of the femur that is a result of early disturbance of growing mesenchymal homeostasis. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] The first PFFD case, reported in 1974 by Kelly, described a deformity of the right leg of an infant. 19 The classification of PFFD was described by Torode and Gillespie in 1991.…”

“…Because of this progress, the categorizations of PFFD are divided subjectively. 18,22 The Aiken classification system of PFFD has been well accepted. This classification system separates PFFD on the basis of the pres-ence of anatomic features of the femoral head, acetabulum, and femoral segment.…”

Medical abilitation of patients with proximal ectromelia of the lower limbs

“…По данным разных авторов, заболеваемость в популяции составляет 0,29 : 1000 новорожденных или 1 случай на 3500 новорожденных [1]. Более высокие цифры отмечены в работе M. Kuklik и I. Marzik (1999) -1,1 : 1000 жителей [2,3]. Несмотря на то что в целом дефекты развития бедренной кости относительно редки, среди всех врожденных аномалий нижних конечностей недоразвития тазобедренного сустава и бедра наиболее распространены и составляют 1,2 % всех патологий опорно-двигательного аппарата [4,5].…”