title: Diverse clinical and genetic aspects of craniofrontonasal syndrome.
abstract: Craniofrontonasal syndrome is characterized by coronal craniosynostosis, hypertelorism, telecanthus, a broad grooved nasal tip, dental anomalies, mild syndactyly, and broad thumbs. It involves an X-linked malformation syndrome with a variable phenotype that is caused by mutations in the ephrin-B1 gene. Detailed phenotypic analysis indicates that females are more severely affected than males, a highly unusual characteristic for an X-linked disorder. We review the literature on this genetic paradox, and discuss the pattern of inheritance and genetic counseling.
authors.affiliation: First Department of Pediatrics, Ippokratio Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece. jeff@med.auth.gr
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: Efterpi L
authors.initials: EL
authors.lastname: Pavlidou
authors.forename: Euthymia
authors.initials: E
authors.lastname: Vargìami
mesh_terms: D000818:Animals; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype