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Waardenburg syndrome- type 4Shah-Waardenburg syndrome.
Pan Afr Med J. 2013;14:60
Authors: Mahmoudi A, Rami M, Khattala K, Elmadi A, Afifi MA, Youssef B
Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male 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.
PMID: 23565307 [PubMed - indexed for MEDLINE]