Korean J Ophthalmol.  1998 Dec;12(2):130-134. 10.3341/kjo.1998.12.2.130.

Clinical characteristics of CHARGE syndrome

• Ahn BS
• Oh SY

• KMID: 1043970
• DOI: http://doi.org/10.3341/kjo.1998.12.2.130

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.

MeSH Terms

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