Year: 2008
Type: article
Study design: Case Report
Abstract: Objective: Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary anomalies and defects of neural- crest- derived tissues. Depending on additional symptoms, WS is classified into four types, WS1, WS2, WS3 and WS4. Waardenburg syndrome type 4, also called Waardenburg- Shah syndrome, is a very rare congenital disorder with variable clinical expression, characterised by Hirschsprung disease, and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness. Case Presentation:This report describes a five-day-old female newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities Conclusion: Different symptoms of Waardenburg syndrome appear in different people. Some individuals will require no treatment, while other may need treatment or surgery for other abnormalities.Our case had other unusual feature (bilateral external ear agenesis) we did not find any similar finding in review the relevant literature.
Source: TSpace (University of Toronto)
Author: Fatemeh Egbalian
Institution: Fasa University of Medical Sciences
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2281728108