Two-stage treatment of extremity deformities associated with thrombocytopenia-absent radius syndrome

Abstract

Objective: The aim of this study was to evaluate the results of 2-stage treatment of upper and lower extremity deformities in patients with thrombocytopenia absent radius syndrome.

Methods: Four patients (3 female, 1 male) with a mean age of 1.8 years (range 1-4) were included in the study. The patients were followed up for an average of 5.5 years. All 4 patients had bilateral radial longitudinal deficiency, whereas only 2 patients had bilateral fixed knee contractures. A 2-stage surgical procedure was implemented. The surgical procedure performed for radial longitudinal deficiency consisted of distraction with an Ilizarov frame in the first stage, followed by centralization performed in the second stage. Knee contractures were first treated using an Ilizarov frame, followed by a hamstring tendon transfer in the second procedure. Radiological evaluation of the radial longitudinal deficiency was done by measuring hand-forearm angle, hand-forearm position, and ulnar bowing preoperatively and at postoperative follow-ups. Knee contracture was evaluated by measuring the angle preoperatively and at postoperative follow-ups.

Results: The mean hand-forearm angle values of patients at preoperative assessment, early postoperative period, and at the last follow-ups were 82.60, 5,80, and 11.10, respectively (P < .001). The hand-forearm position values were -14.25 mm, +11, and +7.1 mm, respectively (P < .001). The ulnar bowing values were 7.3°, 4.5°, and 2.9°, respectively (P < .001). Recurrence of the radial longitudinal deficiency deformity requiring surgery occurred in 1 patient. In the other 3 patients, some deformity recurred but did not require surgical intervention. In addition, 1 patient with knee flexion contracture had a recurrence of the contracture that did not require surgical intervention. There was no circulatory disorder or skin necrosis in the lower or upper extremities of the patients.

Conclusion: This study has shown us that two-stage treatment is a reliable method for lower and upper extremity deformities accompanying thrombocytopenia absent radius syndrome. However, recurrence is still a major problem.

Level of evidence: Level IV, Therapeutic Study.

Figure 1.

Correction of the radial longitudinal deficiency with an Ilizarov device.

Figure 2. A-F.

Gradual correction of knee-fixed flexion contracture with an Ilizarov device in the lower extremity. (A) Preoperative image. (B) Insertion of the Ilizarov contracture device. (C) Condition after the contracture was opened. (D) Preoperative direct radiograph. No hip dysplasia. There is no structural defect in the femur or tibia. Patella agenesis is present. (E) Standing x-ray taken after the correction was completed and the patient started walking without support with the brace. There was valgum in the bilateral tibia. (F) Standing clinical photograph of the patient with a brace.

Figure 3. A-C.

Radiological evaluation. Hand–forearm angle (red-black line), hand–forearm position (yellow line), ulnar bowing (blue-black line). (A) Preoperative, (B) early postoperative, and (C) checkup. There is some recurrence in the checkup.