Delhi Journal of Ophthalmology

A Case Study of Two Siblings of Waardenburg Syndrome

Kritika Katoch, Indu Dhiman, Gaurav Sharma
Dr. Rajendra Prasad Government Medical College, Tanda Kangra, Himachal Pradesh, India

Editor-in-Chief, Delhi Journal of Ophthalmology, Dr R.P.Centre, AIIMS.


Corresponding Author:

Indu Dhiman MS
Department of Ophthalmology,
Dr. Rajendra Prasad Government Medical
College, Tanda Kangra, Himachal Pradesh,
India
Email id: drindudhiman@gmail.com


Received: 28-AUG-2018 Accepted: 12-FEB-2019 Published Online: 15-MAY-2019
DOI: https://dx.doi.org/10.7869/djo.462

Abstract
Waardenburg syndrome is a rare genetically heterogenous disorder of neural crest cell development. Six distinctive features comprising this syndrome include: (1) telecanthus, (2) broad nasal root, (3) synophrys of the eyebrows, (4) a white forelock, (5) heterochromiairides, and (6) deaf-mutism. Waaredenburg syndrome has four subtypes ,depending upon clinical presentation. A careful clinical evaluation should be done to differentiate various types of Waardenburg syndrome and other associated auditory- pigmentary syndrome. We here report two cases of classical features of Waardenburg syndrome in siblings.

Keywords :Waardenburg syndrome, Synophrys, Telecanthus