title: Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment.
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.
authors.affiliation: Division of Plastic Surgery, Michael E DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas 77030, USA. wolfswin@bcm.edu
authors.forename: Erik Matthew
authors.initials: EM
authors.lastname: Wolfswinkel
authors.forename: William M
authors.initials: WM
authors.lastname: Weathers
authors.forename: Bryan
authors.initials: B
authors.lastname: Correa
authors.forename: Edward P
authors.initials: EP
authors.lastname: Buchanan
authors.forename: Larry H
authors.initials: LH
authors.lastname: Hollier
mesh_terms: D002648:Child; D003062:Codon / Q000235:genetics; D003393:Cranial Sutures / Q000002:abnormalities* / Q000601:surgery; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D003398:Craniosynostoses / Q000175:diagnosis; D003596:Cytosine; D036387:Ephrin-B1 / Q000235:genetics; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities* / Q000601:surgery; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis; D006579:Heterozygote; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000601:surgery; D009154:Mutation / Q000235:genetics; D009295:Nasal Bone / Q000002:abnormalities* / Q000601:surgery; D009915:Orbit / Q000601:surgery; D010027:Osteotomy / Q000379:methods; D022821:RNA Splice Sites / Q000235:genetics; D013941:Thymine
chemical_list: D003062:Codon; C484288:EFNB1 protein, human; D036387:Ephrin-B1; D022821:RNA Splice Sites; D003596:Cytosine; D013941:Thymine