Background Use of the Ilizarov technique for limb lengthening in patients with achondroplasia is controversial, with a high risk of complications balancing cosmetic gains. Although several articles have described the complications of this procedure and satisfaction of patients after surgery, it remains unclear whether lengthening improves the quality of life (QOL) of these patients. Questions/purposes We asked whether bilateral lower limb lengthenings with deformity correction in patients with achondroplasia would improve QOL and investigated the correlation between complication rate and QOL. Patients and Methods We retrospectively reviewed 22 patients (average age, 12.7 years) diagnosed with achondroplasia who underwent bilateral lower limb lengthenings between 2002 and 2005. These patients were compared with 22 patients with achondroplasia for whom limb lengthening was not performed. The two groups were assessed using the American Academy of Orthopaedic Surgeons (AAOS) lower limb, SF-36, and Rosenberg selfesteem scores. Minimum followup was 4.5 years (range, 4.5-6.9 years).
Background and purpose Ilizarov’s technique and intramedullary rodding have often been used individually in congenital pseudarthrosis of the tibia. In this series, we attempted to combine the advantages of both methods while minimizing the complications.Methods We reviewed 15 cases of congenital pseudoarthrosis of the tibia (CPT) who were treated with a combination of Ilizarov’s apparatus and antegrade intramedullary nailing between 2003 and 2008. The mean age at surgery was 7.5 (3–12) years and the mean limb length discrepancy was 2.5 (1.5–5) cm. At a mean follow-up time of 4.5 (1.6–7.2) years after the index surgery, the patients were evaluated clinically and radiographically for ankle function (AOFAS score) and for malalignment, signs of union, limb length discrepancy, and complications.Results 14 patients achieved union, in 6 patients primary union and in 8 patients after secondary procedures. The AOFAS score improved from a preoperative mean of 40 (20–57) to 64 (47–75). The main complication was refracture in 1 patient, and non-union in 1 patient.Interpretation The combination of the Ilizarov technique and conventional antegrade intramedullary nailing was successful in achieving union with few complications, though this should be shown in long-term studies lasting until skeletal maturity.
This study evaluated the effect of limb lengthening on longitudinal growth in patients with achondroplasia. Growth of the lower extremity was assessed retrospectively by serial radiographs in 35 skeletally immature patients with achondroplasia who underwent bilateral limb lengthening (Group 1), and in 12 skeletally immature patients with achondroplasia who did not (Group 2). In Group 1, 23 patients underwent only tibial lengthening (Group 1a) and 12 patients underwent tibial and femoral lengthening sequentially (Group 1b). The mean lengthening in the tibia was 9.2 cm (59.5%) in Group 1a, and 9.0 cm (58.2%) in the tibia and 10.2 cm (54.3%) in the femur in Group 1b. The mean follow-up was 9.3 years (8.6 to 10.3). The final mean total length of lower extremity in Group 1a was 526.6 mm (501.3 to 552.9) at the time of skeletal maturity and 610.1 mm (577.6 to 638.6) in Group 1b, compared with 457.0 mm (411.7 to 502.3) in Group 2. However, the mean actual length, representing the length solely grown from the physis without the length of distraction, showed that there was a significant disturbance of growth after limb lengthening. In Group 1a, a mean decrease of 22.4 mm (21.3 to 23.1) (4.9%) was observed in the actual limb length when compared with Group 2, and a greater mean decrease of 38.9 mm (37.2 to 40.8) (8.5%) was observed in Group 1b when compared with Group 2 at skeletal maturity. In Group 1, the mean actual limb length was 16.5 mm (15.8 to 17.2) (3.6%) shorter in Group 1b when compared with Group 1a at the time of skeletal maturity. Premature physeal closure was seen mostly in the proximal tibia and the distal femur with relative preservation of proximal femur and distal tibia. We suggest that significant disturbance of growth can occur after extensive limb lengthening in patients with achondroplasia, and therefore, this should be included in pre-operative counselling of these patients and their parents.
We applied a comprehensive set of clinical and radiological criteria for the diagnosis of hypochondroplasia (HCH) in 160 patients with short stature 58 of whom were diagnosed to have HCH. Taking into account the genotypic and phenotypic variations in HCH, we conducted a study with these 58 patients and tested them for mutations in the fibroblast growth factor receptor 3 (FGFR3) and the short stature homeobox (SHOX) gene. We characterized the phenotypes by clinical and radiologic findings. In the patients with HCH, 19 were included in Group I (FGFR3 mutations-mutations of definite significance), and 39 were in Group II (6 SHOX mutations and 33 negative for disease-causing FGFR3 mutations). The clinical findings were similar in two groups regardless of the presence or absence of mutations. More than 95% of the patients had mesomelic proportions. In Group I, the radiological findings of mesomelia of upper and lower limbs and, L1/L4 ratio in anterior-posterior and lateral view were more typical than in Group II. This study proposes comprehensive clinico-radiological criteria for the diagnosis of HCH, which would help in detecting the true incidence of this underdiagnosed condition. The presence of SHOX mutations suggest genotypic-phenotypic overlap between HCH and Leri-Weill dyschondrosteosis, though further investigation is needed to effectively elucidate the importance of these mutations. Also, the 56.9% of HCH patients with negative mutations for FGFR3 suggests that there are other undiscovered gene mutations associated with this phenotypic entity.
Distraction osteogenesis is one of the common procedures for limb lengthening. However, attempts are being made constantly to establish objective guidelines for early and safe removal of a fixator using a sensitive and quantitative measurement technique. Dual-energy X-ray absorptiometry (DEXA) has been evaluated in the past for understanding callus stiffness, and the present study is a step further in this direction. The purpose of this study was to evaluate the correlation between bone mineral density ratio (BMDR) obtained by a DEXA scan and the pixel value ratio (PVR) on plain digital radiographs at each cortex and various callus pathways and callus shapes as described by Ru-Li's classification. A retrospective analysis of 40 tibial segments in 23 patients operated upon for various indications for limb lengthening was carried out. There were 11 male and 12 female patients with a mean age of 18 years. The Ilizarov method was applied after monofocal osteotomy, and distraction and consolidation were monitored using digital radiographs and DEXA scanning. BMDR was positively correlated with PVR, and the optimal BMDR for removal of the fixator was found to be 0.511. PVR of all cortices, except the anterior cortex, showed significant positive correlation with BMDR of the regenerate. There was good correlation between BMDR and PVR in the homogenous or heterogenous pathway according to callus shape and pathway. Thus, this study shows that BMD measurement can provide an objective and noninvasive method for assessing the rate of new bone formation during tibial distraction osteogenesis. It can thus function as an effective adjunct to measure callus stiffness, along with PVR, using digital radiographs, especially in cases in which callus maturation and stiffness is doubtful. Further studies especially dealing with callus progression through the lucent pathway as well as those dealing with regenerate fractures may be needed to conclusively prove the efficacy of this method for measurement of callus maturation.
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