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In two of 115 patients' causative CNVs were found (2%). The remaining identified rare CNVs represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial VATER/VACTERL or VATER/VACTERL-like phenotypes. Birth Defects Research 109:1063-1069, 2017. © 2017 Wiley Periodicals, Inc.

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we performed targeted analysis of mouse transcriptome data of esophageal tissue obtained at the embryonic day (E) E8.5, E12.5, and postnatal. Results In total we prioritized 14 novel de novo variants in 14 different genes (APOL2, EEF1D,

Our results warrant thorough clinical workup for gastrointestinal anomalies especially in patients with Vogt 3b. Moreover, it might be necessary to focus on a thorough aftercare for neurocognitive development in patients with Vogt 3a. The here presented observations need to be confirmed by future studies.

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Introduction Functional constipation (FC) is a common gastrointestinal disorder affecting up to 30 % of children. Voluntary stool withholding (e.g., after painful defecation) with consecutive harder and larger stools can result in avoidance patterns. Perianal abscesses (PA) are associated with anal pain and painful stooling. We hypothesized that patients with PA have a higher incidence of subsequent FC compared with children without PA. Materials and Methods Between January 2010 and December 2016, we retrospectively analyzed all infants (< 365 days of life) presenting at our institution with PA or unilateral inguinal hernia repair (IH; control group). We screened the clinical charts of these patients for outpatient or inpatient visits due to FC according to ROME IV criteria between 01/2010 and 10/2019. Statistical analysis was done using chi-squared test. Results We included a total of 37 infants with PA and 118 with IH repair (controls). Mean age at presentation for PA was 3.7 ± 0.5 months compared with 4.2 ± 0.3 months at surgery for IH. In the PA group, 6/37 (16%) developed FC compared with 1/118 (1%) in the control group (p-value < 0.01). Patients with PA presented with FC at a mean age of 22.3 ± 4.6 months. Twenty-three of thirty-seven (62%) of PA patients underwent surgery. The development of FC in the PA group was independent of conservative versus surgical treatment (14 vs. 17%, p >0.05). Conclusion Our study suggests that PA is associated with an increased risk of FC during the further course. Prophylactic stool softening in patients with PA may be considered to prevent subsequent FC.

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