A case of CHARGE syndrome diagnosed after delivery: A case report.

Cho, Hyun Chul; Kwack, Min Jung; Park, Man Chul

Case Report

Korean Journal of Obstetrics & Gynecology 2007;50(2):361-365.
Published online February 1, 2007.

A case of CHARGE syndrome diagnosed after delivery: A case report.

Hyun Chul Cho, Min Jung Kwack, Man Chul Park

Department of Obstetrics and Gynecology, College of Medicine, Dankook University, Cheonan, Korea. mdhcjo@hanmail.net

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.

Key Words: CHARGE syndrome