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A Case of Craniofrontonasal Dysplasia Diagnosed at Birth

Journal of the Korean Pediatric Society 2003;46(10):1044-1046.
Published online October 15, 2003.
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
Department of Pediatrics, College of Medicine, Chosun University, Gwangju, Korea
출생시 진단된 Craniofrontonasal Dysplasia 1례
노정아, 노영일, 문경래, 박영봉, 박상기, 김은영
조선대학교 의과대학 소아과학교실
Eun Young Kim, Email: sskey@mail.chosun.ac.kr
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 in females, and minimal to no expression in males. In our case, CFND was diagnosed in a female neonate who had unilateral coronal craniosynostosis, frontal bossing, orbital hypertelorism, broad nasal root, clefting nasal tip, corpus callosum agenesis and mild extremity abnormalities.
Key Words: Craniofrontonasal dysplasia

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