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Pediatr Neurol. 2011 Feb;44(2):83-7. doi: 10.1016/j.pediatrneurol.2010.10.012.

Diverse clinical and genetic aspects of craniofrontonasal syndrome.

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1
First Department of Pediatrics, Ippokratio Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece. jeff@med.auth.gr

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.

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