Wolfswinkel Erik Matthew, Weathers William M, Correa Bryan, Buchanan Edward P, Hollier Larry H
Division of Plastic Surgery, Michael E DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas 77030, USA.
J Craniofac Surg. 2013 Jul;24(4):1303-6. doi: 10.1097/SCS.0b013e3182942b5c.
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.
颅额鼻发育不良（CFND）的表型范围包括眼距过宽、冠状缝早闭、额鼻发育不良和手指异常。对于一种X连锁综合征来说，这种可变表达是自相矛盾的，因为半合子男性比杂合子女性受影响更小。我们描述了一例由c.30>T EFNB1基因突变导致的CFND病例。她没有出现CFND中典型的颅缝早闭，而是表现为鼻根上移和额鼻缝位置异常。本报告揭示了CFND中一种未报道的畸形及其手术意义。
