Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2

Abstract

Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births. The typical features are craniosynostosis, proptosis, midfacial hypoplasia, and noncranial manifestations, including deformities in the cervical spine, elbow, and fingers. Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene.