A Case of Chorioretinal Coloboma in Triple X Syndrome
Journal of the Korean Ophthalmological Society
; : 1898-1901, 2009.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-16596
Biblioteca responsável:
WPRO
ABSTRACT
PURPOSE:
To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma. CASESUMMARY:
A one-year-old female infant presented with 35PD exotropia in the primary position. The patient had poor fixation of the right eye, and a fundus examination showed chorioretinal coloboma in the inferior region of her right eye. The patient also exhibited syndactyly of the right hand. Brain magnetic resonance imaging revealed a well-defined 2 cm cyst in the right cerebellum. Upon chromosomal study, the patient's karyotype was found to be 47, XXX.CONCLUSIONS:
When infants or children present with ophthalmologic findings such as strabismus and coloboma, systemic conditions and congenital problems should be considered.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Aberrações dos Cromossomos Sexuais
/
Trissomia
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Cerebelo
/
Coloboma
/
Exotropia
/
Estrabismo
/
Sindactilia
/
Cromossomos Humanos X
Limite:
Criança
/
Feminino
/
Humanos
/
Lactente
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Ano de publicação:
2009
Tipo de documento:
Artigo