Article
[Genetic, population and phenotypic characteristics of patients with Hirschsprung disease].
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica - 1 Jul 2012
Ruiz Aja E, Vega Hernández L, Martínez Ezquerra N, De Diego García E, Pérez Marrodan A, Alvarez-Buhilla P López
Abstract excerpt
Hirschsprung disease (HSCR) is caused by the absence of ganglion cells in the intestine due to defects in the migration of enteric nervous system cells during embryologic development. The incidence is one in every 5000 births, more common in men than women. There are two main phenotypes according to the aganglionic segment length: Short (S-HSCR, (80% of patients) and Long (L-HSCR, 20%). Variations have been...
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