title: Report of a family with craniofrontonasal syndrome.
abstract: Craniofrontonasal syndrome (CFNS, OMIM 304110) paradoxically presents a severe phenotype in heterozygous females and a mild or a normal phenotype in hemizygous males. Hypertelorism is seen in almost all of the female CFNS patients; craniosynostosis, facial asymmetry, and bifid nose are the other major clinical features. Most of the males are mildly affected, frequently only with hypertelorism. Here, we report a family with a G151S mutation in the EFNB1 gene. The mutation was identified in two severely affected sisters and paradoxically in their clinically unaffected father. The father on whom we report is the first male patient genetically proved to carry a CFNS-causing mutation and not presenting any signs nor symptoms of CFNS.
authors.affiliation: Departments of aMedical Genetics bOrthopedics and Traumatology, Tepecik Education and Research Hospital, Izmir cDepartment of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul dDepartment of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.
authors.forename: Berk
authors.initials: B
authors.lastname: Özylmaz
authors.forename: Alper
authors.initials: A
authors.lastname: Gezdirici
authors.forename: Mustafa
authors.initials: M
authors.lastname: Özen
authors.forename: Önder
authors.initials: Ö
authors.lastname: Kalenderer
mesh_terms: D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000503:physiopathology; D003398:Craniosynostoses / Q000235:genetics / Q000503:physiopathology; D036387:Ephrin-B1 / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D012727:Sex Characteristics
chemical_list: C484288:EFNB1 protein, human; D036387:Ephrin-B1