Genital Malformations in Children With VACTERL - Has Time Come to Include "G" in the Acronym?

Background: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria.

Method: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center.

Complication rate after gastrostomy placement in children can be reduced by simple surgical steps.

Aim: To evaluate if the incidence of postoperative complications after gastrostomy placement is correlated to perioperative parameters or patient characteristics.

Methods: In this prospective observational study, children <18 years of age planned to receive a gastrostomy at partaking clinics between 2014 and 2019 were invited. Pre-, peri- and postoperative variables were collected and followed up 3 months postoperatively.

First genome-wide association study of esophageal atresia identifies three genetic risk loci at , //, and .

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci.

Patient-reported physical and psychosocial significance of abdominal scarring in anorectal malformations.

Background Abdominal scarring in patients with anorectal malformations (ARM) is a permanent visible sign of a chronic congenital condition. The study's aims were to assess the physical and psychosocial significance of abdominal scarring in ARM and to propose a scar treatment approach. Methods A patient- and observer reported cross-sectional study of ARM patients with previous colostomies surgically treated 1997-2015 with minimum 4 years' follow-up after stoma closure.