Proximal Focal Femoral Deficiency

- See:
       - Defects of the Fibula:
       - Van Nes Rotational Plasty:

- Discussion:
    - a development defect of the proximal femur recongnizable at birth;
    - 3rd most common longitudinal deficiency of lower extremity;
    - abnormality ranges from hypoplasia of entire femur to complete absence of the proximal end;
    - bilateral involvement is seen in 15% of patients;

- Limb Length Deformity:
    - percentage of shortening is constant over growth and allows an assessment of final outcome;

- Associated Anomalies:
    - fibular hemimelia(2/3 of pts);
    - PFFD can be associatted with coxa vara or fibular hemimelia (50%)
    - congential knee ligamentous laxity and contracture are also common;

- Clinical Findings:
    - affected extremity has short thigh, & hip is held in flexion, abduction, and external rotation;
    - position and stability of the knee and foot are variable.
    - primary clinical problems are limb length inequality, malrotation, instability at the hip (and, to a lesser extent, at knee), and weakness of the 
           proximal musculature;

- Classification:
    - Aitken:
         - Class A
               - femoral head present;
               - severe varus deformities may develop;
         - Class B
               - femoral head present, but ossification is delayed;
               - severe varus deformities & pseudoarthrosis may develop;
        - Classes C
              - femoral head is not present;
              - severe dysplasia of acetabulum;
              - severe shortening of femur;
        - Class D:
              - femoral head is not present;
              - severe dysplasia of acetabulum;
              - severe shortening of femur;

- Treatment:
    - standard orthopaedic reconstructive procedures have proved totally ineffective in correcting leg length inequality seen in unilateral
          PFFD, esp when there is accompanying ipsilateral fibular hemimelia;
    - treatment must be individualized based on leg length discrepancy, adequacy of proximal musculature, femoral rotation, & proximal joint stability;
    - treatment options:
          - Limb lengthening or contralateral epiphysiodesis (or both) for mild cases;
          - Iliofemoral fusion
               - main disadvantage: inability for prosthesis to allow ischial containment
          - Knee fusion + Boyd (or Syme amputation or Van Nes rotationplasty)
                    - Example of Knee Fusion:

                 - Example of Boyd:

          - Creative prosthetic application for more severe cases;

 - Van Nes Rotationplasty:
     - if calculations indicate that foot of affected limb will be sig distal to level of knee of sound limb, consideration should be given to 
               performing Van Nes rotational osteotomy thru leg;
 - Amputation:
     - if foot of affected limb will lie proximal to or at level of knee of sound limb, ablation of foot by ankle disarticulation w/ a syme closure &
               prosthetic fitting as AKA is indicated;
     - following either ankle disarticulation & above knee prosthetic fitting or rotation-plasty & BKA fitting, consideration should be given to 
         arthrodesis of knee in order to provide to provide a more stable stump and to enhance prosthetic fitting;

- Bilateral PFFD:
    - bilateral PFFD do not present significant limb length inequalities but manifest other biomechanical deficiencies plus disproportionate dwarfism;
    - it is of interest that almost all reported bilateral cases of PFFD are of the D subtype;
    - children w/ bilateral PFFD generally walk quite well w/o any form of prosthetic restoration, & surgical procedures almost always detract
            from their ambulatory independence rather than benefit from them;
    - it is widely accepted that children w/ bilateral PFFD should not be treated surgically unless they ambulate w/o prosthesis

 Natural history and treatment of instability of the hip in proximal femoral focal deficiency.

 Talocalcaneal coalition in patients who have fibular hemimelia or proximal femoral focal deficiency. A comparison of the radiographic and
 pathological findings

 Proximal femoral focal deficiency: does a radiologic classification exist.

 Soft tissue anatomy of proximal femoral focal deficiency.

 Proximal femoral focal deficiency: evaluation and management.

 Rotational osteotomy for proximal femoral focal deficiency.

 Proximal femoral focal deficiency. Evidence for a defect in proliferation and maturation of chondrocytes.

 Iliofemoral fusion for proximal femoral focal deficiency.

 Familial bilateral proximal femoral focal deficiency. Report of a kindred.

 Missing cruciate ligament in congenital short femur.  

 Proximal femoral focal deficiency.

 Congenital abnormalities of the femur and related lower extremity malformations: classification and treatment.

 Proximal femoral focal deficiency: a 50-year experience.

 Proximal femoral focal deficiency: natural history and treatment.

 Proximal femoral focal deficiency: a clinical appraisal.

 Proximal femoral focal deficiency: treatment and classification in  forty-two cases.

 Tibial rotation-plasty for proximal femoral focal deficiency.

 Van Nes rotational osteotomy for treatment of proximal femoral focal deficiency and congenital short femur.

 Proximal femoral focal deficiency: results of rotationplasty and Syme amputation.

 Tibial rotation-plasty for proximal femoral focal deficiency.

 Rotational osteotomy for proximal femoral focal deficiency.

 Computed Tomographic Angiography in Proximal Femoral Focal Deficiency

Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Monday, May 14, 2012 12:53 pm