Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect.
Waardenburg's syndrome and Hirschsprung's disease are both conditions involving a defect of migrating neural crest cells and may be seen together. We report a patient with the combination of these two diseases and review the literature on the subject. Physicians should be aware that deafness can be associated with pigmentary anomalies.
D000015:Abnormalities, Multiple / Q000150:complications*; D005260:Female; D006311:Hearing Disorders / Q000209:etiology; D006627:Hirschsprung Disease / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology