Type 3 Waardenburg Syndrome.
- Author:
Se Young KEE
1
;
Young Chun LEE
;
Se Youp LEE
Author Information
1. Department of Ophthalmology, College of Medicine, Keimyung University, Daegu, Korea.
- Publication Type:Case Report
- Keywords:
Dystopia canthorum;
Hypochromic heterochromic iridum;
Waardenburg syndrome
- MeSH:
Albinism;
Child, Preschool;
Deafness;
Diagnosis;
Exotropia;
Hearing Tests;
Humans;
Korea;
Male;
Radiography;
Thumb;
Waardenburg Syndrome*
- From:Journal of the Korean Ophthalmological Society
2005;46(4):726-730
- CountryRepublic of Korea
- Language:Korean
-
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.
