Scoliosis in Patients with Trisomy 18 Surviving More Than One Year

Trisomy 18 is a chromosomal abnormality with an estimated prevalence of 4.8 per 10,000 births. The condition is associated with scoliosis; however, the nature of this relationship is incompletely understood, as historically the 1-year mortality rate has ranged from 75% to 95%. With modern treatment, many individuals with trisomy 18 are now surviving beyond their first year of life, and consequently treating teams are encountering a greater number of patients with trisomy 18-associated spinal deformity. This case series makes recommendations for the early identification of deformity in patients with trisomy 18.

The clinical records and spine or chest radiographs of 18 consecutive patients aged at least one year who were diagnosed with trisomy 18 were reviewed. The results of radiological assessment for the presence, prevalence, and time of onset of associated spinal deformity were described.

Seventeen of 18 patients who survived beyond one year from birth demonstrated scoliosis. Eleven patients survived and seven died during follow-up. The average age at diagnosis was 2.1±1.5 years (range: 0.1-6.5), and the average age at final follow-up was 4.4±4.1 years (range: 1.1-19.1). The coronal angular deformity at final follow-up was 35.2°±30.4° (range: 14.0°-141.9°). Five patients were diagnosed with scoliosis before one year of age, two of whom had severe scoliosis greater than 45° at the time of diagnosis. Although one patient was treated with bracing, bracing failed to prevent progression of the coronal deformity. No patients underwent surgical correction due to poor health status.

Individuals with trisomy 18 develop scoliosis with very early onset. Screening for scoliosis from birth is recommended to facilitate early identification and characterization of spinal deformities in patients with trisomy 18.