| Laufer et al. (2020) 11. Laufer A, Frommer A, Gosheger G, Roedl R, Broeking JN, Toporowski G, et al. Femoro-pedal distraction in staged reconstructive treatment of tibial aplasia. Bone Joint J. 2020;102-B(9):1248-55. |
Retrospective case series study |
10 patients (2 with bilaterality) |
7 male; 3 female |
Mean age: 2,3 years old |
2 patients IV B (Paley); 4 patients VA; 6 patients VC |
Average follow-up: 7.1 years |
Mobility improved in all patients. All were able to walk with a full load and without pain, but all required knee-ankle-foot orthoses. All were able to participate in daily life normally. All relatives said that they had seen a great improvement compared to the preoperative situation and that they would opt for limb salvage treatment again. Despite the findings, the article concluded that amputation still has fewer complications and should be considered the gold standard. |
| Spiegel et al. (2003) 1010. Spiegel DA, Loder RT, Crandall RC. Congenital longitudinal deficiency of the tibia. Int Orthop. 2003;27(6):338-42 |
Retrospective case series study |
15 patients (4 with bilaterality) |
10 male; 5 female |
Mean age: 1 year and 10 months old |
10 type I de Jones; 5 type II; 4 type III |
Average follow-up: 7 years |
All type I patients were treated with knee disarticulation without post-operative complications. Type II disabilities were treated with foot amputation (Syme or Chopart) and tibiofibular synostosis. No prosthetization problems were identified during follow-up. Type III cases were treated with Syme amputation, and two developed complications, including symptomatic instability in the proximal or distal joint. Regarding reconstructions, there are still no available guidelines to draw firm conclusions. |
| Balci et al. (2015) 1111. Balcı Hİ, Sağlam Y, Bilgili F, Şen C, Kocaoğlu M, Eralp L. Preliminary report on amputation versus reconstruction in treatment of tibial hemimelia. Acta Orthop Traumatol Turc. 2015;49(6):627-33. |
Retrospective case series study |
21 patients (7 with bilaterality) |
12 male; 9 female |
Mean age: 4.8 years old |
7 Jones type IA; 4 type 1B; 11 type II; 1 type III; 5 type IV |
Average follow-up: 5.8 years old |
All the disarticulated knees (6) were Jones type IA. One patient with type III underwent transtibial amputation. In the other patients, Brown’s method associated with an external fixator was used. There were 14 complications: 3 flexion contractures > 30° in the knee joint, 2 equinus deformities, 3 knee dislocations, 2 knee subluxations and 4 plastic deformities. In Jones type IA cases the SF36 questionnaire was much higher in those who underwent disarticulation than those who underwent reconstruction. The study showed that disarticulation was not superior to reconstruction, except in type IA patients. |
| Youssef Ahmed (2014) 1212. Youssef Ahmed AAY. Staged soft tissue, bony and Ilizarov procedures for correction of leg and foot deformities in tibial hemimelia. Clin Res Foot Ankle. 2014;2:128. |
Retrospective case series study |
8 patients |
5 male; 3 female |
Mean age: 2.3 years old |
8 Jones type II |
Average follow-up: 2.6 years |
There were positive results in all eight cases, with a good range of motion in the knee and plantigrade foot, and all patients walked and had no pain. All cases showed total patient and parent satisfaction. The article stated that by comparing the results obtained from limb salvage with those of amputations and prosthetic replacements, in terms of functional outcome, duration of treatment, incidence of complications and the number of surgical procedures required, amputation would be much better. |
| Carraza-Bencano e González-Rodríguez (1999) 1313. Carranza-Bencano A, González-Rodríguez E. Unilateral tibial hemimelia with leg length inequality and varus foot: external fixator treatment. Foot Ankle Int. 1999;20(6):392-6. |
Case report |
1 patient |
1 female |
15 years old |
Jones type II |
Average follow-up: 2 years |
The LC-monotube external fixator was used as a treatment to correct the 13.5 cm discrepancy, with the hindfoot in 60° varus, with the forefoot slightly in adduction and supination. At the end of the follow-up, the patient was walking without the aid of canes, with notable clinical and functional improvement. A plantigrade foot was obtained, with a stable ankle that did not require shoe modifications, allowing the patient to walk and run freely without limitations. |
| Fernandez-Palazzi, Bendahan e Rivas (1998) 1414. Fernandez-Palazzi F, Bendahan J, Rivas S. Congenital deficiency of the tibia: a report on 22 cases. J Pediatr Orthop B. 1998;7(4):298-302. |
Retrospective case series study |
18 patients (4 with bilaterality) |
7 male; 11 female |
Mean age: not mentioned |
9 Jones type IA cases; 4 type IB; 3 type II; 4 type IV |
Average follow-up: not mentioned |
In 10 type Ia and Ib cases, knee disarticulation was performed. One type II case underwent below-knee amputation and proximal tibiofibular synostosis. Two type III cases were treated with Syme amputation. Only in the type IV deformity was reconstructed. The article concluded that amputation is the procedure with the lowest cost and best adaptation. The Brown procedure did not meet expectations. |
| Hosny (2005) 1515. Hosny GA. Treatment of tibial hemimelia without amputation: preliminary report. J Pediatr Orthop B. 2005;14(4):250-5. |
Retrospective case series study |
6 patients |
3 male; 3 female |
Mean age: 7.5 years old |
2 Jones type IA; 4 type II |
Average follow-up: 3 years |
In type IA cases, Ilizarov was applied from the femur to the foot. The Brown procedure was performed one month later. Families were satisfied in all cases. Infection in the pin tract occurred in all cases, which were treated with oral antibiotics. Knee flexion deformity remained in two cases. Fracture of the femur occurred in one case. It was believed that the method of treating tibial hemimelia described in this series can be appreciated in cases in which amputation is refused, as marked functional improvement can be expected. |
| Loder e Herring (1987) 1616. Loder RT, Herring JA. Fibular transfer for congenital absence of the tibia: a reassessment. J Pediatr Orthop. 1987;7(1):8-13. |
Retrospective case series study |
6 patients (3 with bilaterality) |
3 male; 3 female |
Mean age: 9. 5 months old |
Classification not mentioned |
Average follow-up: from 1 year and 8 months to 10 years and 3 months |
Five out of nine knees were considered to have a good result, with contracture in flexion < 10 degrees, and three achieved full extension. Subsequently, all nine subsequently developed increased flexion contractures. Only one knee maintained active quadriceps strength. Three developed varus and medial subluxation, and one underwent disarticulation. According to the Jakayakumar and Eilert criteria, no limb achieved satisfactory results. |
| Shrivastava et al. (2009) 1717. Shrivastava S, Nawghare S, Dulani R, Singh P, Jain S. A rare variant of tibial hemimelia and its treatment. J Pediatr Orthop B. 2009;18(5):220-4. |
Case report |
1 patient |
1 male |
Age: 9 years old |
Not included in Jones’ classification |
Follow-up: 4 years |
The total lengthening of the fibula achieved during reconstruction was 23 cm. The external fixator was applied for 635 days. The range of movement of the knee was 0-90 (active) and 0-110 (passive). The knee showed no signs of instability. At the end of the follow-up, the patient was able to walk without pain. There were no major complications. The article suggests that amputation can be avoided with proper planning and salvage surgery. |
| Courvoisier et al. (2009) 1818. Courvoisier A, Sailhan F, Thevenin-Lemoine C, Vialle R, Damsin JP. Congenital tibial deficiencies: treatment using the Ilizarov's external fixator. Orthop Traumatol Surg Res. 2009;95(6):431-6. |
Retrospective case series study |
9 patients (1 with bilaterality) |
5 male; 4 female |
Mean age: 2 years and 1 month old |
4 Jones type I; 5 type II |
Average follow-up: 18.3 years |
The Ilizarov method was used in five cases in combination with the Brown technique. One case evolved with knee disarticulation. One patient progressed to bilateral knee arthrodesis. The average maximum knee flexion was 35 (0-90) in type I deficiencies and 118 (90-140) in type II deficiencies. In two patients, knee stabilization was achieved at the end of the correction. Due to the associated anomalies often reported in type I congenital tibial deficiencies, amputation remained the treatment of choice. |
| Shahcheraghi e Javid (2016) 1919. Shahcheraghi GH, Javid M. Functional assessment in tibial hemimelia (can we also save the foot in reconstruction?). J Pediatr Orthop. 2016;36(6):572-81. |
Cohort study |
36 patients (12 with bilaterality) |
17 male; 19 female |
Mean age: 12 years and 1 month old |
14 Jones type I, 16 types II, no type III, 11 type IV. 7 of the cases were not classified in any Jones subtype. |
Average follow-up: 9 years |
Knee movement was normal for all except those with previous joint abnormalities. The ankle was quite stiff in 14 cases and 22 had around 15 degrees of range of motion. Quality of life was assessed using the PedsQL score, indicating 68 points in the reconstruction group and 64.6 in the amputee group. The reconstruction group obtained a better functional score than the amputee group in 4 items: physical, social, psychological and school. Among the amputee group, 4 were totally satisfied and 4 were partially satisfied. In the reconstruction group, 8 were totally satisfied, 19 were almost satisfied and 1 was dissatisfied. |
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