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Proximal Femoral Focal Deficiency

PFFD



General Considerations
  • Rare, non-hereditary
  • Partial, congenital absence of the proximal femur and shortening of the affected limb
  • Etiology is unclear
    • Thalidomide has been shown to be a cause

Clinical Findings

  • Affected femur is shortened, abducted, externally rotated and flexed
  • Instability of the knee
  • Deficiencies of the fibula and valgus deformity of the feet
  • Bilateral in 15% of cases

Classification

Aitken Classification

Class

Femoral Head

Acetabulum

A

Present

Normal

B

Present

Mildly Dysplastic

C

Absent

Severely Dysplastic

D

Absent

Absent

 

Imaging Findings

  • May be associated with reduced length of the arteries of the upper leg
  • Patella may be absent
  • Findings are obvious on conventional radiographs
  • MRI may show associated soft tissue abnormalities

 Proximal Femoral Focal Deficiency (PFFD) 

 
Proximal Femoral Focal Deficiency (PFFD). There is aplasia of the proximal right femur (white arrow) and shortening of the femur (black arrow). The acetabulum is not well-formed (red arrow).

Proximal Femoral Focal Deficiency. MC Lee and S Mallozzi. eMedicine.