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Case Report

A Case of Craniofrontonasal Dysplasia Diagnosed at Birth

Jeong A Rho, Young Il Rho, Kyung Rye Moon, Young Bong Park, Sang Kee Park, Eun Young Kim

Clin Exp Pediatr. 2003;46(10):1044-1046. Published online October 15, 2003

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...

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