EP152: A case of atypical Crouzon syndrome with congenital diaphragmatic hernia

Abstract

Crouzon syndrome is an autosomal dominant condition characterized by craniosynostosis and distinctive facial features. Pathogenic variants in the gene encoding fibroblast growth factor receptor type 2 (FGFR2), localized in two exons (termed IIIa and IIIc) account for the majority of classic cases. Here we describe a case with a pathogenic variant affecting the tyrosine kinase domain of the FGFR2 presenting with atypical clinical features.