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Case of the Month

by Dr Noreen Norfaraheen Lee Abdullah MD (UKM), MMed Radiology (UKM), AM(Mal)

Answer to Case Of the Month 
Proximal focal femoral deficiency (PFFD)

Discussion of Findings
The right femur is short; it is tubular in shape with a widened lower end. The femoral head is present. The widened lower end femur formed the knee joint. The pelvis, in particular the right acetabulum is normal in shape and configuration.

Diagnosis: Proximal Focal Femoral Deficiency subclass Type A.
Proximal Focal Femoral Deficiency (PFFD)

PFFD is a rare birth defect that affects approximately 1 in every 200 000 births; although some estimate that the figures may be 1 in every 40 000 births. It is due to defective development of the proximal femur.  One or both legs may be affected. One to two-thirds of the total femur length may be missing from one or both legs. Other bony anomalies are often present in the affected limb, such as missing fibula, unstable hip and absent bony plates from the foot. The deformity is usually visible at birth due to the affected limb/s being markedly shortened in the thigh region and flexed away from the body. The hip is flexed, abducted and externally rotated.

The severity is classified on a severity scale of A to D, A the mildest while D being the severest. 

Aitken Classification:
Schematic representation of the four radiographic subclasses of PFFD.

 

 

Subclasses
Class A: head of the femur is present, adequate acetabulum and a very short femoral segment.

Class B: head of the femur is present, adequate acetabulum and a short, deformed femoral shaft, usually with a small bony tuft on its proximal end.

Class C: the acetabulum is severely dysplastic. The shaft of the femur is short with an ossified tuft at the proximal end of the shaft.

Class D: absence of both the acetabulum and femoral head. A deformed, shortened femoral shaft with no proximal tufting on the shaft of the femur.
 
About the Author 
Dr Noreen, a Consultant Radiologist is currently with the Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.

 
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Last Updated:
Tuesday, 04 January 2005