High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.

Purpose: Hirschsprung's disease (HSCR) is the leading cause of neonatal functional intestinal obstruction, which has been identified in many familial cases. HSCR, a multifactorial disorder of enteric nervous system (ENS) development, is associated with at least 24 genes and seven chromosomal loci, with RET and EDNRB as its major genes. We present a genetic investigation of familial HSCR to clarify the genotype-phenotype relationship.

Two Novel, Nonoperative Methods of Stoma Prolapse in Newborns: 3 Case Reports.

Background: Prolapse is a common complication following enterostomy; the defect and consequences of a prolapse significantly affect health-related quality of life. Creative techniques must be employed to manage the prolapse.

Cases: This article describes management of 3 neonates with stoma prolapse.