Tibial hemimelia type II (Jones) or IV A (Paley). Long-term follow-up of successful reconstructive treatment. Case report

Tibial hemimelia (TH) is a rare congenital condition characterized by partial or complete absence of the tibia, often associated with limb shortening, foot deformities, and joint instability. Due to its rarity and variability, optimal management is challenging. We report a long-term follow-up of a female patient with type II tibial hemimelia (Jones classification) and type IVA (Paley classification). We performed staged reconstructive surgery, including tibiofibular synostosis, centralization of the foot, multiple Ilizarov limb lengthening procedures, and correction of knee valgus and foot deformities. Four lengthening procedures were performed between ages 3.5 and 16 years, achieving a total tibial lengthening of 23 cm. Complications included supracondylar femoral fracture and regenerate fracture, both managed conservatively or with pin fixation. At age 25, clinical evaluation showed a stable knee with a range of motion of 0–120°, a plantigrade foot, normal limb alignment, and a residual limb-length discrepancy of 2 cm. The patient reported lower intensity pain and no need for orthoses. Health-related quality of life, as assessed using the Limb Deformity--Scoliosis Research Society (LD-SRS) questionnaire, demonstrated high scores for treatment satisfaction (4.07/5), function (4.14/5), and pain (4.00/5), with slightly lower scores in mental health (3.80/5). Pain, if it occurs, presents as burning lumbar pain, deep radiating pain in the left hip and right knee, and tingling pain in the right foot. Multistage reconstructive surgery combined with distraction osteogenesis can provide satisfactory functional and cosmetic outcomes in severe tibial hemimelia, enabling near-normal limb length and alignment, stable joints, and good patient-reported quality of life.