Although achondroplasia has been cited as the most common form of rhizomelic dwarfism, no report in the literature has given the data on the ratio of their upper and lower limb segments. We performed a paired study of 91achondroplasia patients with age and gender matched normal control group. Their upper and lower extremity radiographs were evaluated, and their radio-humeral and tibia-femoral ratios were compared. The ratios were compared using the Wilcoxon rank sum test. A p value of <0.05 was considered significant. The mean age of the patients was 15.8 years (95% confidence interval (CI), 13.1–18.6), and there were 45 males and 46 females. The radio-humeral ratio for the upper extremity of achondroplasia patients was 0.76 (95% CI, 0.75–0.76) which was significantly different from the normal control group of 0.79 (95% CI, 0.77–0.80) (p=0.001). The tibio-femoral ratio of the achondroplasia patients was 0.79 (95% CI, 0.78–0.79), which was not significantly different from the normal control group of 0.78 (95% CI, 0.77–0.79) (p=0.346). Rhizomelia is the predominant form of dwarfism in upper extremity, but not in lower extremity in achondroplasia. The functional deficits from these patients seem to come from the generalized limb shortness, and not specifically from rhizomelia.

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.

In order to determine the epidemiology of adult scoliosis in the elderly and to analyse the radiological parameters and symptoms related to adult scoliosis, we carried out a prospective cross-sectional radiological study on 1347 adult volunteers. There were 615 men and 732 women with a mean age of 73.3 years (60 to 94), and a mean Cobb angle of 7.55° (sd 5.95).

In our study, 478 subjects met the definition of scoliosis (Cobb angle ≥10°) showing a prevalence of 35.5%. There was a significant difference in the epidemiological distribution and prevalence between the age and gender groups. The older adults showed a larger prevalence and more severe scoliosis, more prominent in women (p = 0.004). Women were more affected by adult scoliosis and showed more linear correlation with age (p < 0.001). Symptoms were more severe in those with scoliosis than in the normal group, but were similar between the mild, moderate and severe scoliosis groups (p = 0.224) and between men and women (p = 0.231).

Adult scoliosis showed a significant relationship with lateral listhesis, vertebral rotation, lumbar hypolordosis, sagittal imbalance and a high level of the L4–5 disc (p < 0.0001, p < 0.0001, p = 0.002, p = 0.002, p < 0.0001 respectively). Lateral listhesis, lumbar hypolordosis and sagittal imbalance were related to symptoms (p < 0.0001, p = 0.001, p < 0.0001 respectively).

Extensive limb lengthening may be indicated in achondroplastic patients who wish to achieve a height within the normal range for their population. However, increasing the magnitude of lengthening is associated with further complications particularly adjacent joint stiffness and fractures. We studied the relationship between the magnitude of femoral lengthening and callus pattern, adjacent joint stiffness and fracture of the regenerate bone in 40 femoral lengthenings in 20 achondroplastic patients. They were divided into two groups; group A had lengthening of less than 50% and group B of more than 50% of their initial femoral length. The patterns of radiological callus formation were classified according to shape, type and features. The incidence of callus features, knee stiffness and regenerate bone fracture were analysed in the two groups. Group B was associated with an increased incidence of concave, lateral and central callus shapes, adjacent joint and stiffness and fracture. Statistically, the incidence of stiffness in adjacent joints and regenerate bone fracture was significantly associated with the magnitude of lengthening.

We suggest that careful radiological assessment of the patterns of callus formation is a useful method for the evaluation and monitoring of regenerate bone.

Genu varum in the achondroplastic patient has a complex and multifactorial aetiology. There is little mention in the literature of the role of fibular overgrowth. Using the ratio of fibular to tibial length as a measurement of possible fibular overgrowth, we have related it to the development of genu varum. Full-length standing anteroposterior radiographs of 53 patients with achondroplasia were analysed. There were 30 skeletally-immature and 23 skeletally-mature patients. Regression analysis was performed in order to determine if there was a causal relationship between fibular overgrowth and the various indices of alignment of the lower limb.

Analysis showed that the fibular to tibial length ratio had a significant correlation with the medial proximal tibial angle and the mechanical axial deviation in the skeletally-immature group. We conclude that there is a significant relationship between fibular overgrowth and the development of genu varum in the skeletally-immature achondroplastic patient.