{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T13:22:28Z","timestamp":1792502548128,"version":"4.5.0"},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,9,5]],"date-time":"2014-09-05T00:00:00Z","timestamp":1409875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["Intramural Funding"],"award-info":[{"award-number":["Intramural Funding"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>VACTERL association refers to a combination of congenital anomalies that can include: vertebral anomalies, anal atresia, cardiac malformations, tracheo\u2010esophageal fistula with esophageal atresia, renal anomalies (typically structural renal anomalies), and limb anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least three component features of VACTERL and who had abdominal ultrasound performed) met criteria for analysis. Four other patients were additionally analyzed separately, with the hypothesis that subtle renal system anomalies may occur in patients who would not otherwise meet criteria for VACTERL association.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010three (69%) of the 48 patients had a clinical manifestation affecting the renal system. The most common renal manifestation (RM) was vesicoureteral reflux (VUR) in addition to a structural defect (present in 27%), followed by unilateral renal agenesis (24%), and then dysplastic\/multicystic kidneys or duplicated collected system (18% for each). Twenty\u2010two (88%) of the 25 patients with a structural RM had an associated anorectal malformation. Individuals with either isolated lower anatomic anomalies, or both upper and lower anatomic anomalies were not statistically more likely to have a structural renal defect than those with isolated upper anatomic anomalies (<jats:italic>p<\/jats:italic>\u2009=\u20090.22, <jats:italic>p<\/jats:italic>\u2009=\u20090.284, respectively).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Given the high prevalence of isolated VUR in our cohort, we recommend a screening VCUG or other imaging modality be obtained to evaluate for VUR if initial renal ultrasound shows evidence of obstruction or renal scarring, as well as ongoing evaluation of renal health. Birth Defects Research (Part A) 100:801\u2013805, 2014. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23302","type":"journal-article","created":{"date-parts":[[2014,9,5]],"date-time":"2014-09-05T06:43:48Z","timestamp":1409899428000},"page":"801-805","source":"Crossref","is-referenced-by-count":43,"title":["Analysis of renal anomalies in VACTERL association"],"prefix":"10.1002","volume":"100","author":[{"given":"Bridget K.","family":"Cunningham","sequence":"first","affiliation":[{"name":"Department of Pediatrics Walter Reed National Military Medical Center\u2010Bethesda  Maryland"},{"name":"Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Khromykh","sequence":"additional","affiliation":[{"name":"Inova Translational Medicine Institute and Department of Pediatrics Inova Children's Hospital, Inova Health System Falls Church Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel F.","family":"Martinez","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler","family":"Carney","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald W.","family":"Hadley","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin D.","family":"Solomon","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland"},{"name":"Inova Translational Medicine Institute and Department of Pediatrics Inova Children's Hospital, Inova Health System Falls Church Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-008-1101-x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2009.03.011"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO;2-V"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441773"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1201"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.71.5.815"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)67606-9"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1442-200X.2003.01779.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1159\/000345725","article-title":"Sonic hedgehog signaling and VACTERL association","volume":"4","author":"Ngan ES","year":"2013","journal-title":"Mol Syndromol"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/00039896.1975.10666626"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)91398-6"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80024-1"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.09.007"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960628)63:4<529::AID-AJMG4>3.0.CO;2-J"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2013.417"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-56"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2010.00303.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35638"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.10.086"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-1330"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80113-7"},{"key":"e_1_2_6_23_1","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/S0022-5347(17)52093-5","article-title":"Urologic implications of the VATER association","volume":"129","author":"Uehlig DT","year":"1983","journal-title":"J Urol"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(80)80291-0"},{"key":"e_1_2_6_25_1","first-page":"863","article-title":"[Congenital \u201ccardio\u2010esophageal\u201d syndromes. 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