International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Since Year 2012 | Open Access | Fully Refereed | Peer Reviewed

ISSN: 2319-7064




Downloads: 135

Case Studies | Medical Surgical | India | Volume 7 Issue 2, February 2018


Waardenburg Syndrome: A Case Study of 2 Patients

Dr Shruti Muddebihal | Dr Ravindra Banakar


Abstract: Waardenburg syndrome is an autosomal dominant disease with incidence of 1 in 40000 that manifest with pigmentation defects of skin, hair and iris, sensoryneural hearing loss and various defects of neural crest derived tissues. Mutations in EDN3, EDNRB, MITF, PAX3, SNAI2 and SOX10 genes. We report two isolated cases of newborn who presented with complaints of vomiting since day one of birth and other symptoms of intestinal obstruction and all clinical features were consistent with Waardeburg syndrome in the form of white forelock in the midline along with heterochromia iridium, bright red fundal reflex with choroidal depigmentation. Exploratory laparotomy in both cases confirmed Hirschprung disease with histopathological examination report. No family history was noted in both cases.


Keywords: Waardenburg syndrome, White forelock, Heterochromia iridium, Hirschprung disease


Edition: Volume 7 Issue 2, February 2018,


Pages: 39 - 42

Waardenburg Syndrome: A Case Study of 2 Patients


How to Cite this Article?

Dr Shruti Muddebihal, Dr Ravindra Banakar, "Waardenburg Syndrome: A Case Study of 2 Patients", International Journal of Science and Research (IJSR), https://www.ijsr.net/get_abstract.php?paper_id=ART20179922, Volume 7 Issue 2, February 2018, 39 - 42, #ijsrnet

How to Share this Article?

Enter Your Email Address




Similar Articles with Keyword 'syndrome'

Downloads: 4

Case Studies, Medical Surgical, Saudi Arabia, Volume 10 Issue 4, April 2021

Pages: 1222 - 1223

Place of Tracheotomy in Management of Air Way Obstruction for a Child with Hunter Syndrome Case Report

Dr Madi Sihem [3] | Dr Zoheir Kermezli [2]

Share this Article

Downloads: 6 | Monthly Hits: ⮙1

Research Paper, Medical Surgical, India, Volume 11 Issue 2, February 2022

Pages: 4 - 5

A Rare Case of Afferent Loop Syndrome

Dr. Anuraag Bedekar | Dr. S Rajendran

Share this Article


Top