A case of Waardenburg syndrome and aganglionosis
Aritürk, E.; Tosyali, N.; Aritürk, N.
Turkish Journal of Pediatrics 34(2): 111-114
1992
ISSN/ISBN: 0041-4301 PMID: 1440950 Document Number: 390967
Waardenburg's syndrome is characterized by a broad nasal root, pigmentation disturbance and congenital deafness while aganglionosis is described as the partial or complete lack of ganglion cells in the alimentary tract. This report describes a five-day-old male infant with Waardenburg's syndrome associated with total aganglionosis of the colon, ileum and distal jejunum and draws attention to the causal relationship between these two entities.