EDNRB/EDN3 and Hirschsprung Disease Type II

Title Hirschsprung ' s disease

Association of Joubert syndrome and Hirschsprung disease.

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...

hirschsprung disease with vsd-pul.atresia and pda

a four month old male infant was referred to the pediatric clinic of afshar hospital in yazd city because of cyanosis. on physical examination, patient had central cyanosis, single second heart sound, a grade iii/vi continuous murmur in left clavicular area, abdominal distension and large sized smooth and movable abdominal mass in right upper quadrant of abdomen. transthoracic echocardiography ...

A Hirschsprung disease locus at 22q11?

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...

Total colonic aganglionosis in Hirschsprung disease.

Total colonic aganglionosis (TCA) is a relatively uncommon form of Hirschsprung disease (HSCR), occurring in approximately 2%-13% of cases. It can probably be classified as TCA (defined as aganglionosis extending from the anus to at least the ileocecal valve, but not >50 cm proximal to the ileocecal valve) and total colonic and small bowel aganglionosis, which may involve a very long segment of...