International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
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


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

How to Share this Article?

Enter Your Email Address


Similar Articles with Keyword 'syndrome'

Downloads: 4 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1

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, Dr Zoheir Kermezli

Share this Article

Downloads: 90

Case Studies, Medical Surgical, United States of America, Volume 4 Issue 8, August 2015

Pages: 1652 - 1652

Myxedema Coma in a Patient Recovering from Non Thyroidal Illness Syndrome

Hani Shalabi, Hussein Elbadawi

Share this Article

Similar Articles with Keyword 'White'

Downloads: 45

Research Paper, Medical Surgical, India, Volume 6 Issue 9, September 2017

Pages: 1859 - 1864

Correlation of Cytology and Histopathology in the Diagnosis of Cervical Lesions

Ayshath Safoorah; Prema D'cunha; Deepa K V

Share this Article

Downloads: 106

Case Studies, Medical Surgical, India, Volume 4 Issue 7, July 2015

Pages: 1680 - 1682

Delayed Presenting Scapular Osteochondroma as a Rare Cause of Supra-Clavicular Tumor Mass- A Case Report

Dr. Vikas Anand, Dr. Vishal Sidhu

Share this Article

Similar Articles with Keyword 'disease'

Downloads: 3

Research Paper, Medical Surgical, India, Volume 10 Issue 4, April 2021

Pages: 942 - 947

Pancreatic Tuberculosis-Report on a Rare Presentation of a Not So Rare Disease

Dr. Prekshit Chhaparwal, Dr. Ashish Goyal, Dr. Brijesh Kumar Sharma, Dr. M. C. Misra

Share this Article

Downloads: 22

Research Paper, Medical Surgical, India, Volume 10 Issue 4, April 2021

Pages: 281 - 283

Intra-Hepatic Perforation of Gall Bladder Causing Liver Abscess Mimicking Malignancy: A Rare Presentation

Dr. Prekshit Chhaparwal, Dr. Ashish Goyal, Dr. Brijesh Kumar Sharma, Dr. M. C. Misra

Share this Article
Top