Proximal focal femoral deficiency (PFFD) is a rare congenital anomaly characterised by failure of normal development of the proximal femur and hip joint. Significant variability in the clinical presentation and degree of deficiency is common. Current management strategies aimed at improving functional ambulation are largely dependent on the degree of femoral shortening and the status of the hip and knee joint. Treatment of acetabular deficiency and proximal femoral deformity in cases of PFFD must be individualised. Reconstruction of the hip joint with pelvic and femoral osteotomies may be possible in mild cases of PFFD. Stability of the hip and knee joint must be achieved prior to consideration for limb lengthening strategies. Severe cases of PFFD may be beyond surgical correction and warrant alternative strategies such as rotationplasty or selective amputation to facilitate prosthetic fitting.



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