TY - JOUR
T1 - Clinical characteristics of CHARGE syndrome.
AU - Ahn, B. S.
AU - Oh, S. Y.
PY - 1998/12
Y1 - 1998/12
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/0032241744
U2 - 10.3341/kjo.1998.12.2.130
DO - 10.3341/kjo.1998.12.2.130
M3 - Article
C2 - 10188375
AN - SCOPUS:0032241744
SN - 1011-8942
VL - 12
SP - 130
EP - 134
JO - Korean Journal of Ophthalmology
JF - Korean Journal of Ophthalmology
IS - 2
ER -