A Case of Craniofrontonasal Dysplasia Diagnosed at Birth

출생시 진단된 Craniofrontonasal Dysplasia 1례

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.

저자들은 신생아에서 사두증, 좌측 전두부의 돌출, 우측 전두부의 후퇴, 양안 격리증, 넓은 비근과 비첨부의 분열, 경한 발가락의 기형과 뇌량 무형성증을 보인 craniofrontonasal dysplasia 1례를 경험하였기에 보고하는 바이다.