Craniosynostosis Syndromes: Genetics to Imaging

Abstract

Craniosynostosis is seen in 1 of every 2,000 births, with associated craniofacial deformities that produce significant anatomic and functional impairment. In isolated craniosynostosis, the classic clinical appearances and surgical approaches are well established. However, syndromic craniosynostosis presents with compound anatomic malformations and multisystem involvement, greatly complicating diagnosis and therapy. In such cases, imaging and genomic analysis can assist greatly in preoperative diagnosis and follow-up. This article will review the current literature on radiologic manifestations and genetic etiologies of major craniosynostosis syndromes.