Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients With Achondroplasia

Abstract

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.

Keywords: Achondroplasia; Kyphosis; Prevalence; Scoliosis; Skeletal dysplasia.