We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in DiGeorge syndrome and velocardiofacial syndrome. Mutation scanning of RET, GDNF, EDNRB, and EDN3, genes asso...

Loss-of-function mutations in RET cause abnormal development of the enteric nervous system, a congenital condition known as Hirschsprung disease. Hirschsprung mutations in the extracellular domain of RET (RETECD) affect processing in the endoplasmic reticulum (ER) and prevent RET expression at the cell surface. We have investigated the processing and function of a series of Hirschsprung disease...

OBJECTIVES First, to compare the quality of life (QL) and perceived self-competence of children and adolescents with anorectal malformations or Hirschsprung disease with that of reference groups. Second, to identify predictors of QL. PATIENTS AND METHODS A total of 491 patients with anorectal malformations or Hirschsprung disease were sent a questionnaire, which assessed QL (mental, physical)...

background: constipation is a common problem in children and most of them are idiopathic or functional. only a few percent of constipations may relate to hirschsprung disease (hd) and may need to rectal biopsy for diagnosis. now a day, most of these children referred to the pediatric surgeon for rectal biopsy to rule out of hd. with regard to complication, emotional effect, spending time and th...

Abstract 
 Young patients presenting with chronic constipation and failure to thrive, should be promptly investigated looked upon for late presentation of congenital diseases like Hirschsprung disease (HD). This case is reported highlight rare adult HD who presented emergency department complaints lower abdominal pain, flatulence lethargy. Considering the findings CT scan suspicion Adult w...

Hirschsprung disease is a heterogeneous genetic disorder, causative genes of which include the endothelin B receptor (ETB). To investigate the mutations of ETB in Hirschsprung disease, expression of the ETB gene in lymphoblastoid cells from patients and normal healthy adults was examined, and novel mutant transcripts were found. The mutant ETB gene transcripts lacked a 134-bp nucleotide sequenc...