Comprehensive genetic evaluation of Bulgarian children with syndromic craniosynostosis

Abstract

Syndromic craniosynostosis (SC) is a genetically determined premature closure of one or more of the cranial sutures, which may result in severe dysmorphism, increased intracranial pressure along with many other clinical manifestations. The considerable risk of complications along with their significant incidence makes these cranial deformations an important medical problem.

Keywords

• craniosynostosis
• genetic evaluation
• submicroscopic rearrangements
• syndromic