Magdy Abdel-Mota'al, M.D. Research Fellow.

Shanmuga Jayakumar, M.D. Attending Pediatric Orthopaedic Surgeon






This child was 6-1/2 months old, when she was referred to the Alfred I. duPont Institute for a second opinion on her left proximal femoral focal deficiency and fibular hemimelia.


Considerable shortening of the left lower extremity was noted with abnormal musculature about the hip and a marked laxity about the knee joint. The left foot showed valgus deformity and missed toe.


X-ray of the left lower extremity showed PFFD, type A or B ( Aitken's classification) , congenital fibular hemimelia (type II (Achterman & Kalamchi classification )) and an absent lateral ray of the foot.


Proximal femoral focal deficiency, PFFD, is a congenital anomaly of the pelvis and proximal femur which causes hip deformity and shortening and altered function of the involved lower extremity. The condition may be unilateral or bilateral and is often associated with other congenital anomalies.


The developing human embryo first shows evidence of limb buds at the 5 millimeter crown-rump stage.As the apical mesoderm proliferates the limb is laid down in a proximo-distal fashion to be complete at the 12 millimeter stage. Elements of the ileum and proximal femur develop from a common cartilaginous anlage, with subsequent cleft formation to create a joint cavity. This means that if an acetabulum is seen in radiograph at any time in the first year of life a femoral head and neck will be present also, even if not evident in the radiograph.


Numerous agents including irradiation, anoxia, ischemia, mechanical or thermal injury, bacterial toxins, viral infection, chemicals and hormones have been postulated as a cause. However, only the drug thalidomide has been showed to be a definitive cause. When it was taken 4 to 6 weeks after conception, during the period of limb bud formation and differentiation, major limb deformities were produced.


Gillespie & Torode classification:

Group (I): ( congenital short femur )

Group (II): ( true PFFD)

Aitken classified PFFD into 4 types on the basis of radiographic features:

Type (A):

Type (B):

Type (C):

Type (D ):

Associated anomalies:

Clinical picture:


Aim: To provide optimal function, improve appearance and consider the psychological aspects.

Evaluation: The two essential factors to be considered in determining any treatment plan for PFFD are the predicted length of the femur at maturity and pelvic-femoral stability.

Predicted femoral length at maturity:

The percentage of growth inhibition in the involved femur compared to the contralateral side was found to be constant in unilateral cases.


  1. The percentage of growth inhibition is calculated by the difference between the normal and abnormal lengths divided by the normal length and multiplied by 100.
  2. The anticipated normal limb segment length is determined by using serial scanograms and plotting the limb length on the Green-Anderson graph according to skeletal age.
  3. The anticipated normal limb length is multiplied by the percentage of growth inhibition, and the length of the involved limb segment at skeletal maturity can be determined.
Pelvic-femoral stability:

The acetabular index, shelf index, acetabular radiodensity, and acetabular dysplasia are used to predict ultimate pelvic-femoral stability at early age.

Based on predicted femoral length at maturity and pelvic-femoral stability Koman divided patients with unilateral PFFD into two classes:

Class (I): Patients have greater than 60% of the predicted femoral length, evidence of pelvic-femoral stability, less than 17 cm of projected extremity shortening, and the presence of a stable planta-grade foot.

Class(II):Patients have less than 60% of the predicted femoral length or greater than 17 cm predicted extremity shortening.


Unilateral PFFD:

Class (I) (25%):

Class (I) associated with fibular hemimelia:

However for class(I) early partial ablation may be the treatment of the choice. The parents should understand the magnitude of the operative procedures for length equalization, the potential risk, including amputation at less desirable level, and the lengthened extremity will still not be normal.

Class (II) ( 75%):

Other procedures:

  1. Construction of an acetabulum by Chairi's medial displacement iliac osteotomy will provide a roof to which the distal femur is fused, thereby converting the knee to function as a hip. This operation can be done for type D PFFD.
  2. Van Nes rotationplasty:

Advantages over amputation:


Bilateral PFFD:

The gait, despite being of the wadling type, is very effective. The main problem is cosmesis. Considerable height can be added by using bilateral extention prosthesis with an augmentation segment below the feet. However, increasing their stature is of no value if they lose mobility.

Indications for surgery:
  1. Syme amputation:
  2. Valgus osteotomy
  3. Centeralization of the foot in patients with fibular hemimelia and a non-plantar grade valgus foot.
  1. Aitken, G.T.: Congenital short femur with fibular hemimelia. JBJS: 56 -A: 1306, 1974.
  2. Frantz., C.H., and O'Rahilly, R.: Congenital limb deficiencies. JBJS: 43-A: 1202, 1961.
  3. Gillespie, R.,and Torode, I.P.: Classification and management of congenital abnormality of the femur.JBJS. : 65-B: 557, 1983.
  4. Hall, C.B., Brooks, M. B. , and Dennis, J. F. : Congenital skeletal deficiencies of the extremities: classification and fundamental of treatment. JAMA, 181: 590, 1962.
  5. King R.E., : Some concepts of proximal femoral focal deficiency. JBJS: 49-A: 1470, 1967.
  6. Koman, L.A., Meyer, L.C., and Warren, F. H. : Proximal femoral focal deficiency: natural history and treatment. Clin. Orthop., 162: 135, 1982.
  7. Moseley, C.F.: A straight -line graph for leg length discrepancies. JBJS: 59-A: 174, 1977.
  8. Panting, A.L. , and Williams P. F.: Proximal femoral focal deficiency. JBJS 60-B: 73, 1959.