Clinical characteristics of CHARGE syndrome
Korean Journal of Ophthalmology
;
: 130-134, 1998.
Artigo
em Inglês
| WPRIM
| ID: wpr-17239
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Retina
/
Síndrome
/
Anormalidades Múltiplas
/
Encéfalo
/
Coloboma
/
Exotropia
/
Corioide
/
Orelha Externa
/
Entrópio
/
Paralisia Facial
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Korean Journal of Ophthalmology
Ano de publicação:
1998
Tipo de documento:
Artigo
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