{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:38:37Z","timestamp":1792658317857,"version":"4.5.0"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T00:00:00Z","timestamp":1697068800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T00:00:00Z","timestamp":1697068800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>VACTERL association is defined as the nonrandom co\u2010occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo\u2010Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence.<\/jats:p>","DOI":"10.1002\/ajmg.a.63443","type":"journal-article","created":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T03:23:39Z","timestamp":1697081019000},"page":"320-327","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Substantial incidence of bladder dysfunction in patients with\n                    <scp>VACTERL<\/scp>\n                    association: Implications for surveillance"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3598-460X","authenticated-orcid":false,"given":"Adriana","family":"Gomes","sequence":"first","affiliation":[{"name":"Division of Dysmorphology\/Genetics, Department of Pediatrics and Rady Children's Hospital San Diego University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura Forero","family":"Zapata","sequence":"additional","affiliation":[{"name":"Division of Dysmorphology\/Genetics, Department of Pediatrics and Rady Children's Hospital San Diego University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9702-6108","authenticated-orcid":false,"given":"Carolina I.","family":"Galarreta","sequence":"additional","affiliation":[{"name":"Medical Genetics and Metabolism Department Valley Children's Hospital  Madera California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riley","family":"Henderson","sequence":"additional","affiliation":[{"name":"Creighton University School of Medicine  Omaha Nebraska USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Hoyt","sequence":"additional","affiliation":[{"name":"Pediatric Resident PGY\u20103 Valley Children's Healthcare  Madera California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Swee","sequence":"additional","affiliation":[{"name":"Division of Extended Studies University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4833-3747","authenticated-orcid":false,"given":"Lynne M.","family":"Bird","sequence":"additional","affiliation":[{"name":"Division of Dysmorphology\/Genetics, Department of Pediatrics and Rady Children's Hospital San Diego University of California, San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-008-1101-x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.7727\/wimj.2014.151"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-020-03609-4"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/126.2.445"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328358243c"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-008-0764-7"},{"key":"e_1_2_8_8_1","first-page":"328","article-title":"Vater or Vacterl syndrome","volume":"188","author":"Baumann W.","year":"1976","journal-title":"Klinische Padiatrie"},{"key":"e_1_2_8_9_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_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103554"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441773"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20437"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.13341"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.urology.2020.05.052"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951114000924"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-011-2959-4"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.58"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40363"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1493"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.71.5.815"},{"key":"e_1_2_8_21_1","first-page":"259","article-title":"Entwicklungsst\u00f6rungen des Menschen [Developmental abnormalities in humans]","volume":"139","author":"Opitz J. 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