Crouzon syndrome with primary optic nerve atrophy and normal brain functions: A case report

Abstract

Background: This report and review of literature aimed to assess an unusual case of Crouzon syndrome characterized by distinctive disfigurement of craniofacial skeletal and soft tissue structures with primary optic nerve atropy. Methods: We present a case of a 12-year-old girl with Crouzon syndrome displaying classic facial abnormalities with reduced vision and hearing loss. Conclusion: Crouzon syndrome should be managed as early as possible as it results in airway obstruction, decreased vision, mental retardation and poor cosmetic appearance.

Keywords

• Cranisynostosis
• Crouzon syndrome
• Proptosis