First Arch Syndrome: A Case Report on Crouzon Syndrome

Abstract

Wide spectrum of anomalies in the first branchial arch gives rise to a variety of congenital syndromes mainly affecting the lower jaw, ear or mouth during early embryonic development. Crouzon syndrome, one of many craniosynostosis syndrome, is an autosomal dominant disorder caused by mutation in Fibroblast Growth Factor Receptor (FGFR)-2 and -3 gene. Here, we report a case of 7 years old male patient who presented to us with features of brachycephaly, exophthalmos, flat broad nasal bridge and low set ears. Keywords: First arch syndrome, Craniofacial dysostosis, exophthalmos, copper beaten appearance