A Case of Craniofrontonasal Dysplasia Diagnosed at Birth.
- Author:
Jeong A RHO
1
;
Young Il RHO
;
Kyung Rye MOON
;
Young Bong PARK
;
Sang Kee PARK
;
Eun Young KIM
Author Information
1. Department of Pediatrics, College of Medicine, Chosun University, Gwangju, Korea. sskey@mail.chosun.ac.kr
- Publication Type:Case Report
- Keywords:
Craniofrontonasal dysplasia
- MeSH:
Agenesis of Corpus Callosum;
Craniosynostoses;
Extremities;
Female;
Humans;
Hypertelorism;
Infant, Newborn;
Inheritance Patterns;
Male;
Orbit;
Parturition*;
Wills
- From:Journal of the Korean Pediatric Society
2003;46(10):1044-1046
- CountryRepublic of Korea
- Language:Korean
-
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.
