Antenatal ultrasonographic diagnosis of a proximal femoral focal deficiency

Abstract

Congenital hypoplasia of the femur is a principal sign in four uncommon malformations: proximal femoral focal deficiency (PFFD), femurfibula-ulna (FFU) complex, femoral hypoplasia-unusual facies syndrome, and limb/pelvishypoplasidaplasia syndrome. To the best of our knowledge, few reports of ultrasonographic prenatal diagnosis of PFFD,lP3 of FFU ~o m p l e x ,~ or of limb/pelvis-hypoplasia/aplasia syndrome5 have been described. The aim of this report is to present a new case of antenatal ultrasound diagnosis of severe hypoplasia of the left femur associated with ipsilateral absent fibula, anterior bowed tibia, and agenesis of two toes. CASE REPORTA 29-year-old woman, in her second pregnancy, was referred to the Maternity Care Unit of Galliera Hospital at 23 weeks, menstrual age (MA). Her first pregnancy resulted in a full-term spontaneous vaginal delivery of a healthy infant. There was no family history of congenital malformations. The present pregnancy was uncomplicated.A routine real-time ultrasound examination showed a very short left femur and ipsilateral absent fibula with bowed tibia (Figures 1A and 1B). The upper limbs and right lower limb had a length at 50th centile [according to the standard growth curves by Romero et a16 (19SS)l; the biparietal diameter was 55 mm (50th centile). No ecographic evidence of defects of internal organs was present. By amniocentesis, karyotype revealed a 46 XY fetus, and alpha-fetoprotein was within the normal range.

Unilateral Isolated Proximal Femoral Focal Deficiency

“…Its prenatal diagnosis has increased with the widespread use of fetal ultrasonography [1]. Mental disorders and chromosomal abnormalities are not usually present with proximal focal femoral deficiency (PFFD).…”

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

“…[3] This is a rare congenital deformation of the trochanteric part of the femur, resulting in varying degrees of limb shortening. It can affect the head of the femur or/and acetabulum as well, causing article dysfunction, restricting movements and internal rotation of the limb [4] Etiology of this syndrome is not clearly known.…”

Antenatal Presentation of Isolated Femoral Hypoplasia Discovered at 18 Weeks of Gestation

“…The transmission mode is not known but a familial occurrence has been reported [3]. PFFD occurs in 1.1-2/100,000 live births [1]. The unilateral form is more common occurring in 85-90% of cases [2].…”

“…Congenital hypoplasia of the femur is a principal sign of four uncommon malformations: proximal femoral focal deficiency (PFFD), femur fibula ulna (FFU), femoral hypoplasia/unusual facies syndrome (FH/ UFS) and limb/pelvis-hypoplasia/aplasia syndrome [1] but few reports of ultrasonographic prenatal diagnosis of PFFD, of FFU complex or of limb/pelvis-hypoplasia/ aplasia syndromes have been described [2].…”