International Journal of Clinical & Medical Imaging | OMICS International | Editorial Board
Home  |  Journals  |  Conferences |   Membership  |   FAQ's
Join  |  Contact  |   Sitemap  |                
OMICS Group Inc

International Journal of Clinical & Medical Images

ISSN: 2376-0249 Open Access

A Case of Waardenburg Syndrome Type 1

Other Art Works

Image 01 Image 02
Image 03 Image 04
Image 05 Image 06
Image 07 Image 08
Image 09 Image 10
Image 11 Image 12
Image 13 Image 14
Image 15 Image 16
Image 17 Image 18
Image 19 Image 20
Image 21 Image 22
Image 23 Image 24
Image 25 Image 26
Image 27 Image 28
Image 29 Image 30

Deafness is a common childhood problem. Serious hearing impairment is found in one in 800 new-borns. Deafness can be broadly categorized into syndromic (deafness associated with other symptoms) or nonsyndromic (deafness associated with no other symptoms) [1]. Only 30% of congenital deafness is syndromic. The following is a case of Waardenburg syndrome. The child having classical clinical features of

(1) Dystopia canthorum
(2) Pigmentary abnormalities of hair, skin, and iris (white forelock)
(3) Sensorineural deafness.

The genes that are found associated with this syndrome are PAX3, MITF, SLUG, EDNRB, EDN3, and SOX10. These genes when mutated either cause or predispose to progressive deafness. The otoacoustic emission study and brain stem evoked response audiometry study was done in this child and, the child was found to have a severe degree of sensorineural deafness. The child’s ECHO reports were normal. There was no clinical feature suggestive of Hirschsprung’s disease or Limb abnormality. This condition is usually inherited as autosomal dominant variety [3]. There are 4 types of Waardenburg’s syndrome. All the clinical features suggest that the child belong to type 1 Waardenburg’s syndrome.