Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM 235730). Mutation scanni...

irschsprung disease is a congenital disorder in Hwhich neurons are missing from the distal bowel. As the enteric nervous system (ENS) is essential for propulsive gut motility, affected infants have intractable constipation. The current treatment for Hirschsprung disease involves surgical removal of the distal aganglionic region and anastomosis of the ganglionic bowel to the anus. Despite this, ...

BACKGROUND Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen. OUTCOME Child underwent surgical repair for Hirschsprung disease. MESSAGE Association of these two rare entities co...

BACKGROUND/PURPOSE Most surgeons recommend daily dilatation after surgery for Hirschsprung disease and anorectal malformations. Our goal was to critically evaluate the potential risks and benefits of this practice. METHODS A retrospective chart review was carried out of all children undergoing repair of Hirschsprung disease or anorectal malformation over 5 years. Patients with long segment Hi...

introduction: constipation is one of the most common complaints of individuals, which may present with complication like hemorrhoid and fissure. hirschsprung is a disease presenting with chronic constipation and its diagnosis may be delayed until adulthood. it is diagnosed by biopsies from anorectal transitional zone. this study aimed to evaluate the association between hirschsprung and anorect...