American Journal of Medical Case Reports | 2021
Crouzon’s Syndrome: A Case Report
Abstract
Crouzon’s syndrome is a rare autosomal dominant disorder characterized by craniofacial malformations. It’s the most common syndrome among the craniosynostosis group accounting for about 4.8 % of all of them. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor-2 (FGFR-2) gene resulting in premature closure of suture lines. Our article describes a case report of a 3 years old girl who displayed characteristic dysmorphic skull and facial features of Crouzon’s syndrome.