Crouzon’s Syndrome: A Rare Genetic Disorder

Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early, then it may interfere with the growth of the brain. The disease is characterized by craniosynostosis, with associated dentofacial anomalies. This report describes the different clinical features in a 10-year-old male patient, with particular reference to characteristic findings of this syndrome. HOW TO CITE THIS ARTICLE Kaushik A, Bhatia H, Sharma N. Crouzon's Syndrome: A Rare Genetic Disorder. Int J Clin Pediatr Dent 2016;9(4):384-387.