Isolated unilateral proximal focal femoral deficiency presenting in a young woman

What is it about?

Proximal focal femoral deficiency is a rare congenital skeletal abnormality characterized by the partial absence of the proximal femoral segment with shortening of the entire lower extremity. It typically presents as a shortened thigh which is flexed, externally rotated, and abducted. Other skeletal anomalies, especially fibular hemimelia, usually accompany the disorder. The diagnosis of PFFD is made in early childhood and based mainly on conventional radiography. However, the radiographic appearance of the disease evolves as the child grows. In addition, treatment procedures applied to the child affect the radiographic presentation of the disease in adulthood. Almost all cases of PFFD reported to date are young children and in the current literature there is a paucity of radiographic images of PFFD in the mature skeleton. The aim of this case report is to present the radiographic appearance of PFFD in an adult and to increase awareness among radiologists about this disease.

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