Proximal Femoral Focal Deficiency

What is Proximal Femoral Focal Deficiency? It is spectrum of thigh bone deficiency, deformity and discrepancy. Congenital Femoral Deficiency can have various component like Knee and hip Joint malformation, mal-function, joint instability, muscle contracture, femur bone shortening & rotational deformity, cartilaginous un-ossified bone at the femur etc. Fibular hemimelia and ray deficiency in association with CFD is common. Because of thigh bone shortening and abnormality, one limb is short than other. This difference in limb length cause moss of problem during walking. It is rare. Its incidence is as one in 2 lac children.  

 What are the causes of Proximal Femoral Focal Deficiency? Cause of PFFD is unknown in most of the cases but mostly it occur because of some genetic insult occurs during pregnancy and even by using some drug like thalidomide in early phase of pregnancy.

 Symptoms of Proximal Femoral Focal Deficiency: In PFFD,

1. Significant limb shortening is main concern. Grade of limb shortening is depends upon on type of PFFD.
2. Hip and knee instability,
3. Shorter length of thigh compare to other side,
4. Not able to take weight on affected lower limb,
5. Limb may be flexed at knee and hip and rotated outside.
6. Unstable hip/ knee joint

• How PFFD can be Diagnosed? Pffd can be diagnosed at time of birth just by examining the child thigh length. During the pregnancy it can also be diagnosed by ultrasound in second trimester. Pediatric orthopedic surgeon will evaluate child fully to see the whole component of deficit and problem. For confirmation after birth Ultrasound and X-ray of pelvis with thigh can help in confirming the diagnosis.

 Different tests for PFFD: in most of cases we will need certain investigation to see the status of deficit-

X-ray- by X-ray we can see the bony status of deficit. Some time some part of femur is not so ossified so it will be very difficult to identify by X-ray. 

CT scan- CT Scan is being done to see the bony status and supplementary to MRI in elder children.

MRI- is required to see the status of femur deficiency, cartilaginous un-ossified portion of femur, actabulam joint & ligament of knee.\

Classification of PFFD: