Vol. 7, Issue 2, Part B (2025)

Objectives: Congenital Proximal Femoral Deficiency (CPFD), also known as Proximal Femoral Focal Deficiency (PFFD), represents a rare congenital anomaly characterized by partial or complete absence of the proximal segment of the femur, resulting in limb shortening and deformity. The objective of this case report is to highlight the clinical presentation, diagnostic findings, and early management of a rare case of unilateral PFFD in a neonate, emphasizing the importance of prompt diagnosis and multidisciplinary care.
Methods: A 20-day-old male infant was presented with noticeable shortening of the right lower limb and decreased movement at the right hip and knee. Detailed birth and antenatal histories were reviewed to rule out potential teratogenic exposures or familial disorders. Physical examination revealed right femoral shortening and hip dislocation. Radiological evaluation (X-ray and ultrasonography) confirmed proximal femoral deficiency with dislocation and suspected fracture neck of femur. Laboratory investigations, including hematological and biochemical parameters, were within normal limits. Orthopedic consultation suggested card traction for initial management.
Results: The findings were consistent with proximal right femoral deficiency (PFFD), corresponding to Aitken’s classification type C. The condition was managed conservatively with card traction, followed by orthopedic assessment for possible future surgical intervention. However, the patient was subsequently lost to follow-up. The case shares similarities with previously documented unilateral right-sided PFFD cases but differs from left-sided presentations reported in other literature.
Conclusions: Early identification and documentation of PFFD are crucial for optimizing functional outcomes. Timely orthopedic evaluation and multidisciplinary management can significantly improve growth potential and quality of life in affected infants. This case underscores the need for awareness and systematic reporting of such rare congenital anomalies.