Type II Proximal Focal Femoral Deficiency in a Three-Year-Old Female: A Case Report

Abstract

Proximal Focal Femoral Deficiency (PFFD) is a term used to describe a condition where the femur is short and associated with an apparent loss of continuity between the shaft and neck. PFFD is reported as an uncommon but complex clinical condition. This was commonly grouped with other disorders like coxa vara and short bowel tumours. This has a female to male ratio of 2:1 and an incidence of 1 case per 50,000 population to 1 case per 200,000 population. This is a case report of a three-year-old female that was referred for plain radiograph of the lower limbs on account of limb-length discrepancy and abnormal gait. The plain pelvic and lower limb radiograph showed a markedly shortened femur with non-demonstration of the femoral head and neck. There was a vertically oriented acetabula fossa with altered acetabula and iliac angles. The patient is currently managed conservatively mainly by reassurance and use of crutches.