Proximal Femoral Focal deficiency
Congenital proximal femoral focal deficiency is the congenital birth disorder in which femur bone along with adjoining joint is malformed (deformity), under-develop or not develop at all (deficiency). It is very uncommon condition that affects 1 in 200000 populations. It can present in variety of manner. It present at the time of birth. It is not progressive but child can have variable degree of limb length discrepancy & deformity. Child will present as sever limb shortening at birth. Paley has given new classification to this problem which helps in planning treatment.
Paley classification system
Type 1: intact femur with mobile hip and knee
Type 1a normal ossification
Type 1b delayed ossification sub-trochanteric type
Type 1c delayed ossification neck type
Type 2 mobile psudoarthrosis with mobile knee
Type 2a femoral head mobile in acetabulam
Type 2b femoral head absent or stiff in acetabulam
Type 3: diaphysial deficiency of femur
Type 3a knee movement more than 45 degree
Type 3b knee movement less than 45 degree
Type 3c complete absence of femur
Type 4 distal deficiency of femur
X-ray is required to measure limb length discrepancy, hip stability and deformity of bone and ossification of femoral head. MRI is needed to see integrity of proximal femur and acetabulam
We need to examine every child with PFFD. Examination include stability of hip, knee joint, limb length discrepancy , knee ligament status, joint deformity.
Treatment is based on type of cffd. It needs very complex surgery to reconstruct hip, femur and knee joint. Associated problem should also be managed in same sitting. Hip & Knee should be stable before limb lengthening. Acetabular osteotomy is require in cases with acetabular dysplasia. Knee ligament will be reconstructed by tensor fascia lata. Proximal femoral deformity needs three dimensional corrections. Unossified portion of proximal femur may need bone morphogenic protein supplements. Serial femoral lengthening is also requiring maintaining the length of lower limb. Type 3 & 4 is very difficult to reconstruct and very complex surgery. In these cases rotational plasty also helps to great extent in mobilizing the child. In this surgery ankle joint will act as knee joint after surgery then they can use prosthesis afterward. Surgical correction in CFFD needs lot of experience and expert hands. In good hands with careful planning amputation can be avoided. But need surgeries in many steps.
Proximal Femoral Focal Deficiency (PFFD) is congenital femoral deficiency & deformity of the proximal femur. This problem is also known as a congenital femoral deficiency. This congenital anomaly may have instability & mal orientation of hip & knee, deformity of femur, acetabular dysplasia, muscular contracture and limb shortening. Sometimes they can also have knee ligament deficiency. Paley has classified this congenital deficiency in four categories depending upon the severity of pathology, reconstruct ability of congenitally deficient femur. Type 1 will have intact femur with mobile hip & knee. Type 2 will have mobile pseudoarthrosis with a mobile knee. Type 3 will have different grade of diaphysial deficiency. Type 4 have different grade of distal deficiency of femur. Lots of radiological & clinical evaluation is required for planning of treatment. Usually, all these children need reconstruction at the age of 2 years then repeated limb lengthening. In the mildest problem of femoral shortening shoe raise or limb lengthening is required but most of the time they required complex reconstruction of hip joint for good outcome. Hip reconstruction in Proximal Femoral Focal Deficiency (PFFD) is known as super hip surgery and knee joint reconstruction is known as super knee surgery. Type 1 is most reconstructable. In this variety super hip 1 is required in which we need to correct the proximal femur deformity by osteotomy and soft tissue release. Limb lengthening is being performed after final correction of hip problem. type 3 & 4 may need rotationplasty & prosthesis fitting. In rotationplasty ankle joint will be converted in knee joint by surgicaly rotating limb by 180 degree. Type 2 variety will need very complex hip reconstruction. All these procedures is not without complication and should be practice by only expert. Trishla foundation under the supervision of Dr. Jitendra Kumar Jain, pediatric orthopaedic surgeon has given new lease of life in many children affected by this problem.