Craniofrontonasal dysplasia: A case report

Abstract

Abstract Craniofrontonasal dysplasia (CFND) is a rare congenital malformation, which has a wide array of symptoms that can vary drastically between patients. These include coronal synostosis with associated brachycephaly, hypertelorism, cleft lip and palate, and limb malformations, among others. The pleomorphic nature of the disease and numerous clinical decisions required for its management present a unique challenge to craniofacial surgeons when considering indications and timing for surgical intervention. In this report, we present the case of a patient with CFND, their surgical management, and discuss updates in principles of management of CFND.

Keywords

• craniofrontonasal dysplasia
• EFNB1
• hypertelorism