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Craniofrontonasal dysplasia(CFND), a rare congenital syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities. It was first reported by Cohen in 1979. The inheritance pattern is not straightforward. Although all modes of Mendelian inheritance have been suggested, the most plausible explanation is that this is an X-linked condition with the unusual situation of complete expression... |