Shah Waardenberg syndrome.
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Date
2002-05-14
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Abstract
Intermittent or partial small bowel obstruction in a neonate may be a rare presentation of total aganglionosis. The presence of partial albinism and white forelock should alert the clinician to the possibility of associated Hirschsprung disease as a cause of bowel symptoms. Such a rare association has been called Shah Waardenberg syndrome and is being reported.
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Gupta PR, Chowdhary SK, Joshi K, Shukla R, Rao KL. Shah Waardenberg syndrome. Indian Journal of Pediatrics. 2002 May; 69(5): 447-9