All issues > Volume 46(10); 2003

Case Report

J Korean Pediatr Soc. 2003;46(10):1044-1046. Published online October 15, 2003.

A Case of Craniofrontonasal Dysplasia Diagnosed at Birth

Jeong A JA Rho¹, Young Il YI Rho¹, Kyung Rye KR Moon¹, Young Bong YB Park¹, Sang Kee SK Park¹, Eun Young EY Kim¹

¹Department of Pediatrics, College of Medicine, Chosun University, Gwangju, Korea

Correspondence Eun Young EY Kim ,Email: sskey@mail.chosun.ac.kr

Abstract

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.

Keywords :Craniofrontonasal dysplasia