{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T05:47:44Z","timestamp":1791265664736,"version":"4.1.0"},"reference-count":47,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr Surg"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Anorectal malformation (ARM) is a relatively frequently occurring congenital anomaly of hindgut development with a prevalence of 1 in 3,000 live births. ARM may present as an isolated anomaly, but it can also be associated with other anomalies, sometimes as part of a recognizable syndrome. After birth, much medical attention is given to the treatment and restoring of bowel function in children with ARM. Effort should also be given to studying the etiology of the ARM in these patients. This information is important to both the medical community and the family, because it can help guide treatment and provides information on the long-term prognosis of the patient and recurrence risk in the family.<\/jats:p><jats:p>In this article, we will review the current knowledge on the (genetic) etiology of (syndromic) ARM and provide guidelines for (family) history taking and clinical and genetic studies of ARM patients and their families, which is needed to study the causal factors in an ARM patient and for genetic counseling of the families.<\/jats:p>","DOI":"10.1055\/s-0041-1740338","type":"journal-article","created":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T23:55:37Z","timestamp":1639612537000},"page":"482-491","source":"Crossref","is-referenced-by-count":11,"title":["Genetic Counseling and Diagnostics in Anorectal Malformation"],"prefix":"10.1055","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7095-4641","authenticated-orcid":false,"given":"Carlo","family":"Marcelis","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Radboudumc, Nijmegen, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Dworschak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Bonn Center of Paediatrics, Bonn, Nordrhein-Westfalen, Germany"},{"name":"Institute of Human Genetics, University Hospital Bonn, Bonn, Nordrhein-Westfalen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3995-7286","authenticated-orcid":false,"given":"Ivo","family":"de Blaauw","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Radboud Medical Centre, Nijmegen, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris A.L.M.","family":"van Rooij","sequence":"additional","affiliation":[{"name":"Department for Health Evidence, Radboud University Medical Center, Nijmegen, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2021,12,15]]},"reference":[{"issue":"09","key":"ref1","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1111\/1471-0528.12235","article-title":"Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions","volume":"120","author":"C H Wijers","year":"2013","journal-title":"BJOG"},{"issue":"10","key":"ref2","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1016\/j.jpedsurg.2005.08.002","article-title":"Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations","volume":"40","author":"A Holschneider","year":"2005","journal-title":"J Pediatr Surg"},{"issue":"06","key":"ref3","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/BF01955185","article-title":"Additional congenital defects in anorectal malformations","volume":"155","author":"E A Hassink","year":"1996","journal-title":"Eur J Pediatr"},{"issue":"02","key":"ref4","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/ajmg.10371","article-title":"Anorectal anomalies associated with or as part of other anomalies","volume":"110","author":"A Cuschieri","year":"2002","journal-title":"Am J Med Genet"},{"issue":"12","key":"ref5","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.1002\/ajmg.a.40530","article-title":"Associated anomalies in cases with anorectal anomalies","volume":"176","author":"C Stoll","year":"2018","journal-title":"Am J Med Genet A"},{"issue":"04","key":"ref6","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1002\/bdrc.21068","article-title":"Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review","volume":"102","author":"C H Wijers","year":"2014","journal-title":"Birth Defects Res C Embryo Today"},{"issue":"01","key":"ref7","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s00247-019-04513-2","article-title":"Prenatal imaging of anorectal malformations - 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