Type 3 Waardenburg Syndrome
Journal of the Korean Ophthalmological Society
; : 726-730, 2005.
Article
em Ko
| WPRIM
| ID: wpr-185633
Biblioteca responsável:
WPRO
ABSTRACT
PURPOSE:
We report a case of Type 3 Waardenburg syndrome accompanied by intermittent exotropia, which had not previously been encountered in Korea along with the literature study.METHODS:
A 5-year-old boy visited as a result of hypochromic heterochromic iridum in the right eye. Suspecting Type 3 Waardenburg syndrome, plain radiography, a hearing test, an alternate prism cover test and fundus examinations were performed and the presence of lateral displacement of the lacrimal puntum was evaluated.RESULTS:
The presence of hypochromic heterochromic iridum, dysplasia of the left thumb, sensorineural deafness, dystopia canthorum along with a lateral displacement of the lacrimal puntum, albinism of the posterior pole upon a fundus examination, and intermittent exotropia with a 20 prism diopters of deviation were found.CONCLUSIONS:
This patient showed the 4 criteria for a diagnosis of Type 3 Waardenburg syndrome including hypochromic heterochromic iridum, dystopia canthorum along with lateral displacement of the lacrimal puntum, sensorineural deafness, and a muscular system abnormality, i.e., dysplasia of the left thumb. He also showed intermittent exotropia.Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Polegar
/
Síndrome de Waardenburg
/
Radiografia
/
Albinismo
/
Exotropia
/
Surdez
/
Diagnóstico
/
Testes Auditivos
/
Coreia (Geográfico)
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
Ko
Revista:
Journal of the Korean Ophthalmological Society
Ano de publicação:
2005
Tipo de documento:
Article