hirschsprung disease with vsd-pul.atresia and pda

Title Hirschsprung ' s disease

معرفی یک مورد بیماری هیرشپرونگ با بیماری مادرزادی قلب نقص بین بطنی، آترزی شریان ریوی و کانال شریانی باز

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 echocardiograp...

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...

c-Ret-mediated hearing loss in mice with Hirschsprung disease.

A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosp...

Pda Pda Pda

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...