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 develope;
- Class B
- femoral head present, but ossification is delayed;
- severe varus deformities & pseudoarthrosis may develope;

- 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;