Downloads: 135 | Views: 159
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
Similar Articles with Keyword 'syndrome'
Case Studies, Medical Surgical, India, Volume 11 Issue 11, November 2022Pages: 858 - 861
Complex Odontoma of Primary Dentition in a 5 Year Old Child, a Rare Case Report with Review of Literature
Dr. Rajat Kapoor  | Dr. Mudunuri Ravi Teja | Dr. Purak Misra
Case Studies, Medical Surgical, Saudi Arabia, Volume 10 Issue 4, April 2021Pages: 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