Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
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Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Total colonic aganglionosis

A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.

Total: 1

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PMID (PMCID)
19524716	MALE	Infant, Newborn
	Waardenburg syndrome with extended aganglionosis: report of 3 new cases.
	Karaca I, Turk E, Ortac R, Kandirici A. J Pediatr Surg. 2009;44(6):E9-13.
	We present in this study 2 siblings and one first-degree relative for a total of 3 male patients with Waardenburg syndrome and total colonic aganglionosis with or without small bowel involvement, together with their clinical characteristics and treatment methods.