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Semin Pediatr Surg. 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004.

Hirschsprung's disease.

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Department of Paediatric Surgery, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.


Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system in a variable portion of the distal gut. Affected infants usually present in the days after birth with bowel obstruction. Despite surgical advances, long-term outcomes remain variable. In the last 2 decades, great advances have been made in understanding the genes and molecular biological mechanisms that underlie the disease. In addition, our understanding of normal enteric nervous system development and how motility develops in the developing fetus and infant has also increased. This review aims to draw these strands together to explain the developmental and biological basis of HSCR, and how this knowledge may be used in the future to aid children with HSCR.

[Indexed for MEDLINE]

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