Proximal focal femoral deficiency

Case contributed by Sarah Hany Naguib

Presentation

Shortened left lower limb since birth.

Patient Data

Age: 25 years
Gender: Female
  • osteoporotic left lower limb bones
  • left acetabular dysplasia
  • small-sized left femoral head and neck showing an abnormal orientation and a bizarre acute angle with the femoral shaft, due to a twist immediately distal to the trochanters
  • markedly shortened left femoral shaft
  • the left knee shows narrowed meniscal and patellofemoral spaces
  • normal right hip joint 
  • no intra-articular loose bodies

Case Discussion

Findings are those of left proximal focal femoral deficiency (PFFD).

PFFD is a rare congenital non-hereditary anomaly of unknown etiology characterized by abnormal development of the proximal femur.

 

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