Prenatally Diagnosed Proximal Femoral Focal Deficiency: A Report of Two Cases

Abstract: Proximal femoral focal deficiency is a developmental dysplastic congenital abnormality that primarily affects the proximal two-thirds of the femur, resulting in limb shortening and length discrepancies. The diagnosis is made by identifying a shortened femur with a proximal femoral deficiency. If left untreated, it can cause stunted growth, abnormal gait, spinal abnormalities, cosmetic concerns, behavioral changes, and psychological and emotional stress. We present two cases of women who sought routine antenatal care at our hospitals at 18 and 21 weeks of gestation. Both were diagnosed with isolated proximal femoral focal deficiency and chose to terminate the pregnancy, as the preferred management option, limb-lengthening, is not available in Ethiopia, and they did not want to pursue amputation and prosthetic therapy. Keywords: proximal femoral focal deficiency, amputation, limb-lengthening, prosthetic therapy