Presentation
Congenital shortening of the left leg.
Patient Data
Standing x-ray demonstrates markedly shortened femur and apparent absent fibula (fibular hemimelia) although in fact, the fibula is present but behind the tibia (see lateral film). Note the pseudoarthrosis in the midshaft of the femur. The acetabulum is normally formed. The hemiarthrosis is well seen.
3D surface shaded demonstrating the x-ray findings.
Elegant demonstration of the pseudoarthrosis.
Case Discussion
This boy has marked abnormality of the femur consisting of an abnormally shaped proximal femur with a mid-shaft pseudoarthrosis. Features are consistent with a proximal focal femoral deficiency (PFFD).
In addition of frontal full length x-ray there appears to be absence of fibula (fibular hemimelia) which is a well recognized association. In fact the fibula is hidden behind the tibia.
PFFD can be classified in many different ways, but the most commonly used (and simplest) classification is that proposed by Aitken and modified by Amstutz - see classification of PFFD.
According to the Aitken classification this is a class A deformity (type 2 Amstutz).