Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment
Erik Matthew Wolfswinkel1, William M Weathers, Bryan Correa
1Division of Plastic Surgery, Michael E DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas 77030, USA. wolfswin@bcm.edu
Abstract:
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.
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