Scoliosis in trisomy 18

Area of Science:

• Medical Genetics
• Orthopedics
• Pediatric Medicine

Background:

• Trisomy 18 is a genetic disorder associated with multiple congenital anomalies and high early mortality.
• Long-term survival in trisomy 18 patients, though uncommon, presents unique medical challenges.
• Scoliosis is a potential complication that requires further investigation in this population.

Purpose of the Study:

• To investigate the incidence and progression of scoliosis in patients with trisomy 18.
• To evaluate the management strategies and outcomes for scoliosis in trisomy 18 survivors.

Main Methods:

• Retrospective evaluation of 17 patients with trisomy 18 (13 female, 4 male; ages 0-22 years).
• Analysis of scoliosis development, curve progression, and vertebral anomalies in relation to age at death or survival.
• Review of management interventions including bracing and surgical fusion.

Main Results:

• None of the 12 patients who died by age 2 developed scoliosis or had vertebral anomalies.
• All 5 patients surviving beyond age 2 developed scoliosis, with demonstrated curve progression in follow-up cases.
• Bracing was poorly tolerated in two patients with significant curves (48°, 58°), while one patient with a 30° curve responded well.
• One patient with severe scoliosis underwent successful surgical fusion.

Conclusions:

• Scoliosis is a significant concern for trisomy 18 patients who survive beyond the age of two.
• Early and careful evaluation for scoliosis is crucial in long-term trisomy 18 survivors.
• Management of scoliosis in this population can be complex, requiring individualized treatment approaches.