Bilateral Fibular Hemimelia with FATCO Syndrome: A Rare Case of Complex Limb Deficiencies and Surgical Management

Abstract

Introduction: Fibular hemimelia (FH) is a rare congenital limb deficiency characterized by fibular aplasia or hypoplasia, often associated with tibial bowing, foot deformities, and digital anomalies. FATCO syndrome, a condition of unknown genetic etiology, is defined by fibular aplasia, tibial campomelia, and oligosyndactyly. Bilateral FH is even rarer and presents significant challenges in diagnosis, surgical management, and functional rehabilitation.
Case Presentation: We report a 5-year-old male with bilateral fibular hemimelia associated with FATCO syndrome. Clinical findings included absent fibulae, tibial bowing, oligosyndactyly, and severe foot deformities, with significant functional limitations in weight-bearing and mobility. Surgical intervention included Syme amputation on the right limb due to severe foot hypoplasia, and super ankle correction with tibial osteotomy and external fixation on the left limb to maximize residual function. Bilateral botulinum toxin injections were administered for muscle spasticity. Postoperatively, the patient demonstrated preserved functional mobility, requiring long-term prosthetic rehabilitation and physiotherapy.
Conclusion: This case highlights the complexity of bilateral fibular hemimelia and FATCO syndrome, emphasizing the need for early diagnosis, individualized surgical planning, and structured rehabilitation. While limb reconstruction may be considered in select cases, early amputation with prosthetic adaptation provides superior functional outcomes in severe deformities. Long-term orthopedic follow-up is essential to prevent secondary complications. Future research should focus on genetic factors, prosthetic advancements, and standardized treatment protocols to improve long-term outcomes in patients with complex congenital limb deficiencies.