A case of CHARGE syndrome diagnosed after delivery: A case report.
- Author:
Hyun Chul CHO
1
;
Min Jung KWACK
;
Man Chul PARK
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Dankook University, Cheonan, Korea. mdhcjo@hanmail.net
- Publication Type:Case Report
- Keywords:
CHARGE syndrome
- MeSH:
CHARGE Syndrome*;
Chromosome Aberrations;
Ear;
Fertilization;
Growth and Development;
Heart;
Intellectual Disability;
Nasopharynx;
Numismatics;
Paternal Age;
Prevalence
- From:Korean Journal of Obstetrics and Gynecology
2007;50(2):361-365
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The acronym CHARGE (Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities) was coined by Pagon et al. in 1981. The prevalence of CHARGE syndrome was estimated to be approximately 1/10,000 - 1/15,000. The cause of the CHARGE syndrome remains unknown but several observations support the role of genetic factors and a significantly higher paternal age at conception and several chromosomal abnormalities. The clinical spectrum of this multiple congenital anomaly and mental retardation is broad and variable, therefore the treatment of the CHARGE syndrome was not definitive and conservative. We hereby report, with reviewing other literature, a case of CHARGE syndrome diagnosed after delivery.
