Proximal femoral focal deficiency of the fetus – early 3D/4D prenatal ultrasound diagnosis

Abstract

Proximal Femoral Focal Deficiency (PFFD) is a rare congenital syndrome of unknown etiology. Additional disorders can be present up to 70% of PFFD cases. Management (including termination) depends on the severity of the malformation. We present a case of a 32-year-old woman referred for routine ultrasound examination in the 12 th week of pregnancy. Detailed 3D/4D evaluation revealed asymmetry of lower limbs and diagnosis of isolated PFFD was established. Parents were fully informed and decided to continue the pregnancy. We stress here the importance of early 3D/4D ultrasound diagnosis. Our paper presents the earliest case where the diagnosis of PFFD was established with 3D/4D ultrasound.

Proximal Focal Femoral Deficiency: Prenatal Diagnosis of a Rare Congenital Skeletal Anomaly

“…Proximal focal femoral deficiency is not commonly reported in medical literature due to the rarity of the condition. 2,13 Consequently, only few cases of PFFD have been reported in Nigeria, 4,5 and none of these was diagnosed prenatally; documentation of this patient case was, therefore, necessary. In addition, the prenatal ultrasound images of PFFD as presented may facilitate the recognition of the condition by other practitioners.…”

Unilateral Isolated Proximal Femoral Focal Deficiency in an Egyptian Infant and Review of Literature

“…8,9,18,19 Our index patient did not have antenatal care, although antenatal ultrasound findings of similar cases were reported in many studies between 18 and 32 weeks' gestation. 1,2,7,11,[20][21][22] Kudla et al 23 reported a fetus as early as the 12th week of gestation whose ultrasound evaluation detected lower limb asymmetry and was diagnosed with…”

Type VI syndactyly with skeletal dysplasia: a new syndrome?

“…PFFD is a rare congenital anomaly consequent upon abnormal development of the femur in the trochanteric region with associated anomaly of the pelvis and lower limbs. Its incidence is 1-2/100 000 live births (Biko et al, 2012;Matsushita et al, 2014;Kudla et al, 2016). It is a radiological diagnosis without known genetic cause, but is established as an element of some skeletal dysplasias such as focal femoral hypoplasia.…”