Crouzon syndrome

Abstract

Crouzon 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 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 premature synostosis of coronal and sagittal sutures which begins in the first year of life. A case of Crouzon syndrome is presented here. The clinical and characteristic radiological features and the investigations that were carried out, along with the treatment options are discussed.

Keywords

• Crouzon syndrome
• fibroblast growth factor
• premature synostosis