Premature Craniosynostosis in a Rare Genetic Disease- A Case Report

Abstract

Background: Crouzon syndrome is a rare genetic disorder inherited in autosomal dominant pattern with complete penetration and variable expressivity.Its most notable characteristic feature is premature synostosis of cranial sutures .The case presented is of a 4 yr old boy with box like head with microcephaly, protuberant eyes, hydrocephalus, low visual acquity diagnosed as a case of crouzon syndrome after clinical and radiological assessment.

Keywords

• Autosomal dominant
• Crouzon syndrome
• Premature craniosynostosis