Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients with Achondroplasia

Study Design Retrospective chart review, case series. Objectives To determine the prevalence of scoliosis and kyphosis in patients with achondroplasia. Summary of Background Data There is little published research on the prevalence of scoliosis and thoracolumbar kyphosis in patients with achondroplasia. Methods The authors retrospectively reviewed charts of 459 patients with achondroplasia who were seen by the senior author, an orthopedic surgeon, from 1999 through 2013, at a tertiary referral center. After excluding patients who presented after spinal surgery and those who were referred for specific non-spinal issues, 326 patients were included (71%). Cobb angles were measured on lateral and posteroanterior radiographs. Scoliosis was defined as curvature on posteroanterior radiographs greater than 10°; thoracolumbar kyphosis was defined as any kyphotic curvature with an apex between T11 and L2. These data were then stratified by sex, age group (0-2, 3-12, 13-19, 20-40, and >40 years), and severity: within normal limits (≤10°), mild (>10°-25°), moderate (26°-50°), and severe (>50°). Results The study population consisted of 176 males and 150 females with a mean age of 18 years. Scoliosis was observed in 60%. Thoracolumbar kyphosis was observed in 79%, with 52% exhibiting moderate to severe curvature. Conclusions In these patients, the rates of scoliosis and kyphosis were 60% and 79%, respectively, which are much higher than the rates reported in the literature for the general population of children. Level of Evidence Level 3 or 4.