Proximal Femoral Focal Deficiency

What is Proximal Femoral Focal Deficiency?

It is a spectrum of thigh bone deficiency, deformity, and discrepancy. Congenital Femoral Deficiency can have various components like Knee and hip Joint malformation, malfunction, joint instability, muscle contracture, femur bone shortening & rotational deformity, the 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 the other. This difference in limb length causes 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?

The cause of PFFD is unknown in most cases but mostly it occurs because some genetic insult occurs during pregnancy and even by using some drug like thalidomide in the early phase of pregnancy.

Symptoms of Proximal Femoral Focal Deficiency:

In PFFD,

1. Significant limb shortening is the main concern. The grade of limb shortening is dependent upon the type of PFFD.
2. Hip and knee instability,
3. The shorter length of the thigh compared to the other side,
4. Not able to take weight on affected lower limb,
5. A limb may be flexed at the knee and hip and rotated outside.
6. Unstable hip/ knee joint

How PFFD can be Diagnosed?

Pffd can be diagnosed at the time of birth just by examining the child’s thigh length. During the pregnancy, it can also be diagnosed by ultrasound in the second trimester. The pediatric orthopedic surgeons will evaluate the child fully to see the whole component of deficit and problem. For confirmation after birth Ultrasound and X-ray of the pelvis with thigh can help in confirming the diagnosis.

Different tests for PFFD:

In most cases, we will need certain investigation to see the status of deficit-

X-ray-

by X-ray, we can see the bony status of the deficit. Some time some part of the 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, a cartilaginous un-ossified portion of the femur, acetabulum joint & ligament of the knee.

Classification of PFFD:

Frequently Asked Questions