A Case of Chorioretinal Coloboma in Triple X Syndrome
Journal of the Korean Ophthalmological Society
;
: 1898-1901, 2009.
Artículo
en Coreano
| WPRIM
| ID: wpr-16596
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Aberraciones Cromosómicas Sexuales
/
Trisomía
/
Encéfalo
/
Imagen por Resonancia Magnética
/
Cerebelo
/
Coloboma
/
Exotropía
/
Estrabismo
/
Sindactilia
/
Cromosomas Humanos X
Límite:
Niño
/
Femenino
/
Humanos
/
Lactante
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Año:
2009
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS