Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis.
A patient with Waardenburg syndrome type II associated with Hirschsprung megacolon and Marcus Gunn ptosis is presented. It is suggested that these different anomalies are manifestations of the same neurocrestopathy.
D000015:Abnormalities, Multiple / Q000196:embryology*; D000293:Adolescent; D001763:Blepharoptosis / Q000196:embryology*; D005260:Female; D006627:Hirschsprung Disease / Q000196:embryology*; D006801:Humans; D009432:Neural Crest; D014849:Waardenburg Syndrome / Q000196:embryology*