Treatment of scoliosis in patients with Cri-du-chat syndrome: case series

Abstract

5P minus syndrome (5P−), also known as Cri-du-chat syndrome, is a rare genetic disorder caused by deletion of the short arm of chromosome 5. First reported by Lejeune in 1963, its incidence is approximately 1 in every 50,000 live births.

Patients suffering from 5P-display characteristic traits, such as cat-like meowing, mental retardation, and peculiar facial features. In the orthopedic field, scoliosis is eligible for treatment. However, most cases reported in the literature are treated surgically depending on the severity, and no reports have presented the natural history and the effect of conservative treatment.

This case report presents three patients with 5P−: two were treated surgically (8-year-old boy, growth-friendly surgery with growing rods; 8-year-old girl, corrective fusion) and one was treated conservatively (11-year-old girl, brace-wearing). Although short-term results have been acceptable so far, the natural history of scoliosis is still unclear and long-term outcomes have not been reported yet. A long-term follow-up of at least 10-20 years is necessary to determine whether the recovery of these three patients followed a smooth course.