Proximal Focal Femoral Deficiency : Wheeless' Textbook of Orthopaedics

- 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.