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Waardenburg Syndrome: A Case Study of 2 Patients

Journal: International Journal of Science and Research (IJSR) (Vol.7, No. 2)

Publication Date:

Authors : ; ;

Page : 39-42

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

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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.

Last modified: 2021-06-28 18:40:06