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

Abstract

Background: Proximal femoral focal deficiency is an extremely rare congenital anomaly with an incidence of 1.1-2.0 in 100,000 live births. It is a dysplastic phenomenon with predilections for the proximal two-thirds of the femur leading to limb length discrepancies. We report two cases of proximal femoral focal deficiency, which is a rare entity. Case presentations: Case 1 A 4.5-month-old baby Annang tribe girl was referred in April 2019 to our Radiology Department, University of Uyo Teaching Hospital, Nigeria for lower limb radiographs. This was on account of her shortened left lower limb from birth despite uneventful antenatal history. An examination revealed bulky left thigh with abduction of her left hip joint. Radiographic evaluations showed absent left femoral capital epiphysis, with deficient proximal left femur. A diagnosis of proximal femoral focal deficiency was made. Sadly, the parents and baby failed to honor future orthopedic consultations on intimation of sequential management protocols. Case 2 A 4-month-old baby Ibibio tribe girl was similarly referred in August 2019 to the same Radiology Department for lower limb conventional radiographs due to short left lower limb that was noticed from birth. An examination showed shortened left lower limb in external rotation. Her right and left lower limbs measured 27 cm and 23 cm, respectively, with landmark taken from anterior superior iliac spine to tip of medial malleolus. A diagnosis of proximal femoral focal deficiency was made. Corroborating radiographs showed shortened and hypoplastic left femoral shaft but preserved femoral capital epiphysis. Coincidentally, the parents have not brought back their baby to our orthopedic clinic. Conclusions: The discovery of two cases of proximal femoral focal deficiency, a rare entity, from referrals for conventional radiography in our Radiology Department encourages literature documentation. Such recognition will facilitate early institution of management, thus ensuring meaningful childhood growth.

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

“…3,7 However, none of these factors were present in the patient or her mother. This was in agreement with Uduma et al 25 who did not report any risk factors in their study on two patients with PFFD.…”

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

“…While most cases are sporadic, rare cases of familial occurrence are possible. 5,6 In the present case study, there was no identifiable risk factor.…”

Something is Missing

“…Its incidence is approximately 0.11–0.2 per 10 000 births, and its presentation is typically unilateral 2,3 . The aetiology of PFFD is unclear; it is typically sporadic, with no genetic predisposition 2,3 . Prenatal ultrasound can capture PFFD; unfortunately, this was not the case for our patient 2 .…”

“…Proximal femoral focal deficiency (PFFD) is a rare, congenital malformation whereby the proximal femur and acetabulum may be dysplastic or completely absent 1–3 . Its incidence is approximately 0.11–0.2 per 10 000 births, and its presentation is typically unilateral 2,3 . The aetiology of PFFD is unclear; it is typically sporadic, with no genetic predisposition 2,3 .…”

“…Diagnosis postpartum is suspected clinically and confirmed and typed using radiographs. Treatment typically involves a combination of surgery and prosthetics, involving a multidisciplinary team of paediatricians, orthopaedic surgeons, and physical therapists 3 …”