A twisted tale of limbs: fibular aplasia with tibial campomelia and oligosyndactyly

A 3-year-old female child was evaluated for deformity and shortening of the right lower limb, which had been evident since birth. No maternal history of drug intake during pregnancy; however, the mother was a technician working in a radiation lab. On clinical examination, the affected leg appeared bowed, with fewer and smaller toes than on the opposite side. Radiographic assessment revealed a complete absence of the right fibula, along with pronounced anterior curvature of the tibia (tibial campomelia) and reduced digital count (oligosyndactyly). The contralateral limb was normal. These findings were consistent with the fibular aplasia-tibial campomelia-oligosyndactyly (FATCO) spectrum, an uncommon congenital anomaly involving defective mesenchymal development of the lower limb. It is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance. Orthopaedic management included plans for gradual limb lengthening, with amputation and prosthetic fitting considered to enhance function and mobility.