J Korean Pediatr Soc.  2003 Oct;46(10):1044-1046.

A Case of Craniofrontonasal Dysplasia Diagnosed at Birth

• Rho JA
• Rho YI
• Moon KR
• Park YB
• Park SK
• Kim EY

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.

Keyword

Craniofrontonasal dysplasia

MeSH Terms

Agenesis of Corpus Callosum
Craniosynostoses
Extremities
Female
Humans
Hypertelorism
Infant, Newborn
Inheritance Patterns
Male
Orbit
Parturition*
Wills