PHONE
+1-650-618-9889

International Journal of Clinical & Medical Images

ISSN: 2376-0249

Medical Image - International Journal of Clinical & Medical Images (2015) Volume 2, Issue 6

A Case of Waardenburg Syndrome Type 1

A Case of Waardenburg Syndrome Type 1

Author(s): Monish PR, Ajay M*, Sengupta S, Saha J and Sk Basu

10.4172/2376-0249.1000329

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.

 

flyer Image
Indexing and Archiving
A generic square placeholder image with rounded corners in a figure.
All published articles are assigned to Digital Object Identifier (DOI)- CrossRef.
A generic square placeholder image with rounded corners in a figure.
All published articles of this journal are included in the indexing and abstracting coverage of: