Crouzon syndrome: A case report and review of literature

Crouzon syndrome (CS) was first described by Octave Crouzon in 1912. It is a rare genetic disorder accounting for approximately 4.5% of all cases of craniofacial dysostosis. Craniofacial dysostosis is a comprehensive term applied to a variety of deformities of the skull which arise because of a defect in the development of the primitive mesoderm, so that there is a premature synostosis of the suture lines in the base of the skull and the vault. Although CS is inherited as an autosomal dominant trait, many cases are sporadic and present as de novo mutations arising from unaffected parents. Incidence of this syndrome is approximately 15-16 per one million newborns. This article describes a case of CS in a13-year-old girl. Also, pathogenesis, clinical features, differential diagnosis, prenatal diagnosis, management, and preventive aspects are discussed.