Article
Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment.
The Journal of craniofacial surgery - 1 Jul 2013
Wolfswinkel Erik Matthew, Weathers William M, Correa Bryan, Buchanan Edward P, Hollier Larry H
Abstract excerpt
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...
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