Clinical characteristics of CHARGE syndrome.
10.3341/kjo.1998.12.2.130
- Author:
Byoung Sun AHN
1
;
S Y OH
Author Information
1. Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul, Korea.
- Publication Type:Case Reports
- MeSH:
Abnormalities, Multiple*/genetics;
Abnormalities, Multiple*/diagnosis;
Brain/abnormalities*;
Case Report;
Child, Preschool;
Choroid/abnormalities*;
Coloboma/genetics;
Coloboma/diagnosis*;
Ear, External/abnormalities;
Entropion/genetics;
Entropion/diagnosis;
Exotropia/genetics;
Exotropia/diagnosis;
Exotropia/congenital;
Facial Paralysis/genetics;
Facial Paralysis/congenital;
Female;
Heart Defects, Congenital/genetics;
Heart Defects, Congenital/diagnosis*;
Human;
Infant;
Karyotyping;
Male;
Mandible/abnormalities*;
Retina/abnormalities*;
Syndrome
- From:Korean Journal of Ophthalmology
1998;12(2):130-134
- CountryRepublic of Korea
- Language:English
-
Abstract:
CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome.
