Summary: A retrospective review of 108 medical records was conducted to determine the prevalence of scoliosis and kyphosis in patients with achondroplasia.
Introduction: To date, there is limited data on the prevalence of scoliosis and kyphosis in achondroplasia. We present our ten year experience at a busy tertiary referral center.
Methods: A retrospective chart review of 414 patients with achondroplasia seen by the Department of Orthopaedics at the John Hopkins Hospital was conducted. Inclusion criteria for acceptance into this study were diagnosis of achondroplasia and full medical record availability, including PA and lateral radiographs. A cohort of 108 patients seen from 1999‐2009 met these criteria. Degrees of scoliosis and kyphosis were determined by Cobb angle measurements on PA and lateral radiographs by a single reviewer. Scoliosis was defined as lateral curvature greater than 10 degrees, and kyphosis as posterior convex curvature greater than 40 degrees. Prior to analysis, data was stratified by gender and age groups (i.e. group A: 0‐2 years, group B:>2‐12 years, group C: 13‐19 years, group D: 20‐40 years, group E:>40 years).
Results: Of the 108 patients, 62 were male and 46 were female. The average patient age was 14.6 years, with a median age of 2.9 years. Male predominance of achondroplasia was noted with a male to female ratio of 1.3. Scoliosis was observed in 29.7% of the cohort, kyphosis in 15.7% and kyphoscoliosis in 12%. No significant differences in prevalence of either scoliosis or kyphosis were noted in males versus females. The degree of scoliosis was greatest in group B males (12±8.4 degrees) and in group D females (12.5±9.8 degrees). There were no significant differences in angles of kyphosis in any age group or gender.
Conclusion: The prevalence of scoliosis and kyphosis in achondroplasia is considerably higher than that of the general population, however the degree of scoliosis and kyphosis is mild and non‐progressive in our experience. These patients are generally managed conservatively with good results.