A Case of Craniofrontonasal Dysplasia Diagnosed at Birth
Journal of the Korean Pediatric Society
; : 1044-1046, 2003.
Article
in Ko
| WPRIM
| ID: wpr-24989
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Orbit
/
Wills
/
Craniosynostoses
/
Parturition
/
Inheritance Patterns
/
Extremities
/
Agenesis of Corpus Callosum
/
Hypertelorism
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
Ko
Journal:
Journal of the Korean Pediatric Society
Year:
2003
Type:
Article