A Case of Waardenburg Syndrome Type 4
Journal of the Korean Ophthalmological Society
; : 176-179, 2013.
Article
em Ko
| WPRIM
| ID: wpr-205983
Biblioteca responsável:
WPRO
ABSTRACT
PURPOSE: To report the first case of Waardenburg syndrome type 4 in Korea. CASE SUMMARY: A 3-year-old boy visited our clinic to have his abnormal right eye iris color checked. The patient had a previous operation Hirschsprung's disease. In addition, his older sister and aunt showed similar ocular findings. A general physical examination, hearing test, and fundus examination were performed. On examination, hypochromic heterochromic iridum, albinism of the posterior pole upon ipsilateral fundus, and dystopia canthorum were found. There was no abnormal finding in the hearing test. CONCLUSIONS: The patient showed hypochromic heterochromic iridum, dystopia canthorum, and albinism of ipsilateral fundus. He also had a family history of Waardenburg syndrome and had surgery associated with congenital megacolon. The patient was diagnosed with Waardenburg syndrome type 4.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Exame Físico
/
Síndrome de Waardenburg
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Albinismo
/
Iris
/
Irmãos
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Testes Auditivos
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Doença de Hirschsprung
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Coreia (Geográfico)
Limite:
Child, preschool
/
Humans
/
Male
País como assunto:
Asia
Idioma:
Ko
Ano de publicação:
2013
Tipo de documento:
Article