What is the diagnosis and treatment for Proximal Focal Femoral Deficiency (PFFD)?

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Last updated: April 7, 2025View editorial policy

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From the Research

Proximal focal femoral deficiency (PFFD) management should prioritize a multidisciplinary approach, with treatment options depending on the severity of the deficiency, and considering the patient and family's preferences and priorities, as stated in the most recent study 1. The condition is characterized by underdevelopment of the upper part of the femur bone, resulting in a shortened thigh and functional limb length discrepancy. Key aspects of management include:

  • Limb equalization and deformity correction
  • Nonsurgical management using prosthetics
  • Amputation and limb lengthening
  • Complex limb reconstruction
  • Physical therapy to maintain muscle strength, joint mobility, and functional independence The most recent study 1 emphasizes the importance of maximizing function and considering the overall severity of the condition, as well as the patient and family's preferences and priorities, in making management decisions. In terms of specific treatment options, limb lengthening using external fixation devices like the Ilizarov apparatus may be performed in stages during childhood and adolescence for mild cases, while rotationplasty (Van Nes procedure) or amputation with prosthetic fitting might provide better functional outcomes in more severe cases 2, 1. Early intervention is crucial, with treatment typically beginning when the child starts to stand or walk, and long-term follow-up is necessary as growth continues, with adjustments to prosthetics or additional surgeries often required during developmental milestones.

References

Research

Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency: Evaluation and Management.

The Journal of the American Academy of Orthopaedic Surgeons, 2022

Research

Proximal focal femoral deficiency (PFFD): management options and controversies.

Hip international : the journal of clinical and experimental research on hip pathology and therapy, 2009

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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