Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association

Comparison of clinical outcomes and anorectal manometry in patients with congenital anorectal malformations treated with posterior sagittal anorectoplasty and laparoscopically assisted anorectal pull through

“…In addition, one patient treated by LAARP with no RAIR was diagnosed as the short-segment Hirschsprung's disease (HD) later by barium enema and acetylcholine esterase histochemical staining. Because lots of reports and genetic investigations have revealed some associations between ARM and HD [10], it should draw our caution to avoid misdiagnosis of the complicated HD in patients with ARM who had no RAIR postoperatively.…”

Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation

“…Malrotation is an infrequent but recognized finding in these children, and there are 3 reported associations with Hirschsprung's disease, of which 2 included anorectal malformation [4,[12][13][14].…”

Cat eye syndrome, anorectal malformation, and Hirschsprung′s disease

“…In regards to the association between CES, ARM and HD, only three case have been reported in the literature, two cases were associated with long segment HD[15] and the third one associated with short segment HD[4] [Table 1]. This makes our case the fourth one.…”

“…[123] Furthermore, occurrence of HD and ARM in a patient with cat eye syndrome (CES) is very rare, with only three cases reported in available English literature. [145]…”