Syndromic Craniosynostosis: Cranial Vault Expansion in Infancy

Abstract

Syndromic craniosynostosis (CS) represents a relatively uncommon disease process that poses significant reconstructive challenges for the craniofacial surgeon. Although there is considerable overlap in clinical features associated with various forms of syndromic CS, key extracranial features and close examination of the extremities help to distinguish the subtypes. While Virchow's law can easily guide the diagnosis of single suture, nonsyndromic CS, syndromic CS traditionally results in atypical presentations inherent to multiple suture fusion. Coronal ring involvement in isolation or associated with additional suture fusion is the most common pattern in syndromic CS often resulting in turribrachycephaly.

Keywords: Acrocephalosyndactyly; Apert; Complex craniosynostosis; Craniofacial syndromes; Crouzon; Muenke; Pfeiffer; Saethre-Chotzen.