Background: The congenital absence of the tibia is a rare disease, and an orthopaedic surgeon may not encounter such cases during the course of his/her career. This is the largest report to date of the management of such cases by a single surgeon. The foot and leg were persevered in the majority of the cases, and a functional evaluation system was used to report outcomes.
Methods: Thirty-six patients with tibial hemimelia, who had been under the direct care of the authors since infancy, were evaluated clinically and radiographically. The patients or their parents filled out the Pediatric Quality of Life and the parents' satisfaction forms. The surgical interventions performed, and their effects on school attendance and, and also the shoe type they wore were documented.
Results: Thirty-six patients (19 girls and 17 boys) with 48 tibial-deficient limbs (19 right, 5 left, and 12 both right and left sides) were studied. The patients were assessed at 12 years (2.5 to 32.5 y), with a mean follow-up of 9 years (2 to 23 y). The 48 limbs included 14 type I, 16 type II, 11 type IV, and 7 unclassified by using the Jones classification; and 6 type I, 11 type II, 16 type III, 1 type IV, and 14 type VII by using the Weber classification. Primary amputation was performed in 8 patients (10 limbs) and limb preservation surgeries on 38 legs (28 patients). Tibiofibular synostosis, centralization of the ankle, and Ilizarov lengthening were the most common procedures. Nonunion of tibiofibular synostosis (2 cases) and knee stiffness (6 cases) were the main complications. Among the reconstructed limbs, 12 were in regular and 18 in modified shoes. The Pediatric Quality of Life of 68 points in the reconstructed group was a significant achievement, and it was also better than the score of patients who had undergone amputation.
Conclusion: Reconstruction of tibial hemimelia with foot preservation provides good functional outcome in the majority of cases.
Level of evidence: Level IV.