Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome.
Both pigmentation and otic defects of Waardenburg Syndrome and Hirschsprung's disease have a common origin in neural crest cells and were described in 1951 and 1887, respectively. The clinical manifestations of both in the same patient were described in 1981 in 12 infants so afflicted. The authors present such a case of long segment aganglionosis in a 15-day-old Marshallese girl with Waardenburg-Shah syndrome and discuss diagnosis, treatment, and prognosis.
Shim
W K
WK
Kapiolani Medical Center for Women and Children & the Department of Surgery, University of Hawaii, Honolulu, USA.
Derieg
M
M
Powell
B R
BR
Hsia
Y E
YE
D017809:Fatal Outcome; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D014849:Waardenburg Syndrome / Q000150:complications*