Shah-Waardenburg Syndrome

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...

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Detalles Bibliográficos
Autores principales: Mahmoudi, Abdelhalim, Rami, Mohamed, Khattala, Khalid, Elmadi, Aziz, Afifi, My Abderrahmane, Youssef, Bouabdallah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617621/
https://www.ncbi.nlm.nih.gov/pubmed/23565307
http://dx.doi.org/10.11604/pamj.2013.14.60.1543
Descripción
Sumario: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.

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