Scoliosis in Carey-Fineman-Ziter Syndrome: Clinical Course, Association with Pierre Robin Sequence and Treatment

Abstract

Objective − We present a female patient with Carey-Fineman-Ziter Syndrome (CFZS) and 4 patients with Pierre Robin sequence who developed a progressive thoracic scoliosis in early child life. Material and Methods − We reviewed the medical notes and spinal radiographs of these 5 patients who were treated for progressive scoliosis, underwent a posterior spinal fusion and were followed in our service to skeletal maturity. Results − We describe the patients’ response to treatment including bracing which was unsuccessful, and scoliosis correction. We compared the evolution of scoliosis and surgical outcome between the patient with CFZS and our 4 patients with Pierre-Robin sequence and hypotonia who were managed for scoliosis under our care in order to understand possible aetiological relations between the underlying myopathic condition and the development of scoliosis. Conclusion − Scoliosis in children with CFZS and Pierre Robin sequence occurred in early childhood with rapid progression around puberty and poor effectiveness of bracing. We suggest that generalised hypotonia is a likely causative factor in the development and rapid deterioration of scoliosis in these 2 conditions. Spinal surgery through a posterior spinal fusion produced excellent deformity correction and functional outcomes that were maintained through to skeletal maturity in all 5 patients.