Craniofrontonasal dysplasia: Variability of the frontonasal suture and implications for treatment

摘要

Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and digital anomalies. The variable expression is paradoxical for an X-linked syndrome because hemizygous males are less affected than heterozygous females. We describe a case of CFND due to a c.30>T EFNB1 gene mutation. In place of the typical craniosynostosis found in CFND, she presented with a superiorly displaced nasion and an anomalously positioned frontonasal suture. This report reveals an unreported malformation in CFND and its surgical implications.