Shah-Waardenburg syndrome

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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Veröffentlicht in:The Pan African medical journal 2013, Vol.14 (60), p.60-60
Hauptverfasser: Mahmoudi, Abdelhalim, Rami, Mohamed, Khattala, Khalid, Elmadi, Aziz, Afifi, My Abderrahmane, Youssef, Bouabdallah
Format: Artikel
Sprache:eng
Schlagworte:
Case Report
Endothelins - physiology
Fatal Outcome
Hirschsprung Disease - diagnosis
Hirschsprung Disease - pathology
Hirschsprung Disease - surgery
hirschsprung's disease
Humans
Infant, Newborn
intestinal aganglionosis
Male
neurocristopathy
Pigmentation Disorders - diagnosis
Waardenburg Syndrome - classification
Waardenburg Syndrome - diagnosis
Waardenburg Syndrome - genetics
Waardenburg Syndrome - pathology
waardenburg-shah syndrome
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Beschreibung
Zusammenfassung: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.
ISSN:1937-8688
1937-8688
DOI:10.11604/pamj.2013.14.60.1543