{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T18:14:50Z","timestamp":1790532890227,"version":"4.1.0"},"reference-count":51,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["World Neurosurgery"],"published-print":{"date-parts":[[2020,6]]},"DOI":"10.1016\/j.wneu.2020.03.057","type":"journal-article","created":{"date-parts":[[2020,3,19]],"date-time":"2020-03-19T21:19:14Z","timestamp":1584652754000},"page":"461-467","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":36,"special_numbering":"C","title":["Caudal Regression Syndrome\u2014A Review Focusing on Genetic Associations"],"prefix":"10.1016","volume":"138","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6460-823X","authenticated-orcid":false,"given":"Tyler","family":"Warner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler A.","family":"Scullen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8502-7952","authenticated-orcid":false,"given":"Joe","family":"Iwanaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Loukas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.J.","family":"Bui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron S.","family":"Dumont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Shane","family":"Tubbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.wneu.2020.03.057_bib1","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1227\/00006123-199305000-00009","article-title":"Sacral agenesis and caudal spinal cord malformations","volume":"32","author":"Pang","year":"1993","journal-title":"Neurosurgery"},{"key":"10.1016\/j.wneu.2020.03.057_bib2","doi-asserted-by":"crossref","first-page":"107","DOI":"10.4172\/2161-0436.1000107","article-title":"Etiology of caudal regression syndrome","volume":"3","author":"Semba","year":"2013","journal-title":"Hum Genet Embryol"},{"key":"10.1016\/j.wneu.2020.03.057_bib3","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1001\/archneur.1970.00480270022004","article-title":"Caudal dysplasia (caudal regression syndrome)","volume":"23","author":"Price","year":"1970","journal-title":"Arch Neurol"},{"key":"10.1016\/j.wneu.2020.03.057_bib4","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1097\/00006254-199407000-00028","article-title":"Caudal regression syndrome","volume":"49","author":"Adra","year":"1994","journal-title":"Obstet Gynecol Surv"},{"key":"10.1016\/j.wneu.2020.03.057_bib5","first-page":"1038","article-title":"Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence)","volume":"151","author":"Boemers","year":"1994","journal-title":"J\u00a0Urol"},{"key":"10.1016\/j.wneu.2020.03.057_bib6","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/(SICI)1096-8628(19991119)87:2<99::AID-AJMG1>3.0.CO;2-Q","article-title":"Polytopic anomalies with agenesis of the lower vertebral column","volume":"87","author":"Bohring","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.wneu.2020.03.057_bib7","first-page":"168","article-title":"Sacral agenesis with associated anomalies (caudal regression syndrome): autopsy case report","volume":"145","author":"Abraham","year":"1979","journal-title":"Clin Orthop Relat Res"},{"key":"10.1016\/j.wneu.2020.03.057_bib8","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1016\/j.jpedsurg.2007.10.036","article-title":"Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma","volume":"43","author":"Torre","year":"2008","journal-title":"J\u00a0Pediatr Surg"},{"key":"10.1016\/j.wneu.2020.03.057_bib9","first-page":"1021","article-title":"MR of the caudal regression syndrome: embryologic implications","volume":"15","author":"Nievelstein","year":"1994","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.wneu.2020.03.057_bib10","doi-asserted-by":"crossref","first-page":"e193","DOI":"10.1016\/j.spinee.2015.10.019","article-title":"Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney","volume":"16","author":"Demir","year":"2016","journal-title":"Spine J"},{"key":"10.1016\/j.wneu.2020.03.057_bib11","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1016\/j.prp.2017.06.010","article-title":"Sirenomelia associated with discoid adrenal and lumbar meningocoele: an autopsy report","volume":"213","author":"Islam","year":"2017","journal-title":"Pathol Res Pract"},{"key":"10.1016\/j.wneu.2020.03.057_bib12","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1515\/bjmg-2017-0001","article-title":"Sirenomelia associated with hypoplastic left heart in a newborn","volume":"20","author":"Turgut","year":"2017","journal-title":"Balkan J Med Genet"},{"key":"10.1016\/j.wneu.2020.03.057_bib13","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1016\/j.spinee.2015.07.446","article-title":"Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult","volume":"15","author":"Bayraktutan","year":"2015","journal-title":"Spine J"},{"key":"10.1016\/j.wneu.2020.03.057_bib14","doi-asserted-by":"crossref","first-page":"128","DOI":"10.11604\/pamj.2017.27.128.12041","article-title":"Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother","volume":"27","author":"Bouchahda","year":"2017","journal-title":"Pan Afr Med J"},{"key":"10.1016\/j.wneu.2020.03.057_bib15","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1034\/j.1399-0004.2002.610202.x","article-title":"Genetic control of caudal development","volume":"61","author":"Catala","year":"2002","journal-title":"Clin Genet"},{"key":"10.1016\/j.wneu.2020.03.057_bib16","series-title":"Obstetric Imaging: Fetal Diagnosis and Care","author":"Copel","year":"2018"},{"key":"10.1016\/j.wneu.2020.03.057_bib17","doi-asserted-by":"crossref","first-page":"2884","DOI":"10.1093\/hmg\/ddv050","article-title":"MBTPS1\/SKI-1\/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development","volume":"24","author":"Achilleos","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.wneu.2020.03.057_bib18","series-title":"Zur Pathologie des Beckens. I. Das schr\u00e4g-ovale Becken, S. 61\u201363","author":"Hohl","year":"1852"},{"key":"10.1016\/j.wneu.2020.03.057_bib19","doi-asserted-by":"crossref","first-page":"323","DOI":"10.7863\/jum.1993.12.6.323","article-title":"Caudal regression versus sirenomelia: sonographic clues","volume":"12","author":"Twickler","year":"1993","journal-title":"J\u00a0Ultrasound Med"},{"key":"10.1016\/j.wneu.2020.03.057_bib20","doi-asserted-by":"crossref","first-page":"949","DOI":"10.3109\/14767058.2015.1026254","article-title":"Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome","volume":"29","author":"Kaygusuz","year":"2015","journal-title":"J\u00a0Matern Fetal Neonatal Med"},{"key":"10.1016\/j.wneu.2020.03.057_bib21","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/bdra.20225","article-title":"Mutational screening of theCYP26A1 gene in patients with caudal regression syndrome","volume":"76","author":"Marco","year":"2006","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"10.1016\/j.wneu.2020.03.057_bib22","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/bdra.20234","article-title":"HLXB9 homeobox gene and caudal regression syndrome","volume":"76","author":"Merello","year":"2006","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"10.1016\/j.wneu.2020.03.057_bib23","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1097\/FPC.0b013e32801152d6","article-title":"The discovery of new coding alleles of human CYP26A1 that are potentially defective in the metabolism of all-trans retinoic acid and their assessment in a recombinant cDNA expression system","volume":"17","author":"Lee","year":"2007","journal-title":"Pharmacogenet Genomics"},{"key":"10.1016\/j.wneu.2020.03.057_bib24","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/S0890-6238(97)00153-6","article-title":"Retinoic acid-induced caudal regression syndrome in the mouse fetus","volume":"12","author":"Padmanabhan","year":"1998","journal-title":"Reprod Toxicol"},{"key":"10.1016\/j.wneu.2020.03.057_bib25","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1016\/S0002-9440(10)63082-9","article-title":"Embryonic gut anomalies in a mouse model of retinoic acid-induced caudal regression syndrome","volume":"159","author":"Pitera","year":"2001","journal-title":"Am J Pathol"},{"key":"10.1016\/j.wneu.2020.03.057_bib26","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1016\/S0002-9440(10)62349-8","article-title":"Implication of Wt1 in the pathogenesis of nephrogenic failure in a mouse model of retinoic acid-induced caudal regression syndrome","volume":"166","author":"Tse","year":"2005","journal-title":"Am J Pathol"},{"key":"10.1016\/j.wneu.2020.03.057_bib27","doi-asserted-by":"crossref","first-page":"e1005024","DOI":"10.1371\/journal.pgen.1005024","article-title":"Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy","volume":"11","author":"Draaken","year":"2015","journal-title":"PLoS Genet"},{"key":"10.1016\/j.wneu.2020.03.057_bib28","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.ejmg.2010.09.001","article-title":"De novo microduplication at 22q11.21 in a patient with VACTERL association","volume":"54","author":"Schramm","year":"2011","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.wneu.2020.03.057_bib29","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/ccr3.815","article-title":"22q11.2 microduplication syndrome with associated esophageal atresia\/tracheo-esophageal fistula and vascular ring","volume":"5","author":"Nguyen","year":"2017","journal-title":"Clin Case Rep"},{"key":"10.1016\/j.wneu.2020.03.057_bib30","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1186\/s12881-016-0359-2","article-title":"Sacral agenesis: a pilot whole exome sequencing and copy number study","volume":"17","author":"Porsch","year":"2016","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.wneu.2020.03.057_bib31","first-page":"20150356","article-title":"Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up","volume":"3","author":"Kanagasabai","year":"2017","journal-title":"BJR Case Rep"},{"key":"10.1016\/j.wneu.2020.03.057_bib32","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1101\/gad.479408","article-title":"VACTERL\/caudal regression\/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5","volume":"22","author":"Szumska","year":"2008","journal-title":"Genes Dev"},{"key":"10.1016\/j.wneu.2020.03.057_bib33","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ydbio.2012.09.003","article-title":"In\u00a0vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome","volume":"372","author":"Pennimpede","year":"2012","journal-title":"Dev Biol"},{"key":"10.1016\/j.wneu.2020.03.057_bib34","doi-asserted-by":"crossref","first-page":"e0164206","DOI":"10.1371\/journal.pone.0164206","article-title":"Targeting of the Plzf gene in the rat by transcription activator-like effector nuclease results in caudal regression syndrome in spontaneously hypertensive rats","volume":"11","author":"Li\u0161ka","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.wneu.2020.03.057_bib35","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/tera.1420250316","article-title":"Malformations in infants of diabetic mothers","volume":"25","author":"Mills","year":"1982","journal-title":"Teratology"},{"key":"10.1016\/j.wneu.2020.03.057_bib36","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1002\/uog.832","article-title":"P362: caudal regression syndrome and sirenomelia affecting only one twin in two diabetic, dizygotic pregnancies","volume":"22","author":"Assimakopoulos","year":"2003","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.wneu.2020.03.057_bib37","doi-asserted-by":"crossref","first-page":"186","DOI":"10.5152\/jtgga.2011.43","article-title":"Prenatal diagnosis of caudal regression syndrome without maternal diabetes mellitus","volume":"12","author":"Yeniel","year":"2011","journal-title":"J\u00a0Turk Ger Gynecol Assoc"},{"key":"10.1016\/j.wneu.2020.03.057_bib38","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/sj.jp.7210614","article-title":"Caudal regression syndrome in twin pregnancy with type II diabetes","volume":"22","author":"Zaw","year":"2002","journal-title":"J\u00a0Perinatol"},{"key":"10.1016\/j.wneu.2020.03.057_bib39","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1007\/s00383-005-1451-4","article-title":"Caudal regression syndrome\u2014case report and review of literature","volume":"21","author":"Singh","year":"2005","journal-title":"Pediatr Surg Int"},{"key":"10.1016\/j.wneu.2020.03.057_bib40","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S0301-2115(98)00075-X","article-title":"Early detection of caudal regression syndrome: specific interest and findings in three cases","volume":"80","author":"Subtil","year":"1998","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1016\/j.wneu.2020.03.057_bib41","first-page":"486","article-title":"Early detection of caudal regression syndrome with transvaginal scanning","volume":"75","author":"Baxi","year":"1990","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.wneu.2020.03.057_bib42","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1471-2393-1-8","article-title":"Prenatal diagnosis of caudal regression syndrome: a case report","volume":"1","author":"Aslan","year":"2001","journal-title":"BMC Pregnancy Childbirth"},{"key":"10.1016\/j.wneu.2020.03.057_bib43","doi-asserted-by":"crossref","first-page":"36","DOI":"10.4103\/2156-7514.190892","article-title":"Magnetic resonance imaging analysis of caudal regression syndrome and concomitant anomalies in pediatric patients","volume":"6","author":"Boruah","year":"2016","journal-title":"J\u00a0Clin Imaging Sci"},{"key":"10.1016\/j.wneu.2020.03.057_bib44","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1097\/ANC.0b013e31819de44f","article-title":"Recognition of caudal regression syndrome","volume":"9","author":"Boulas","year":"2009","journal-title":"Adv Neonatal Care"},{"key":"10.1016\/j.wneu.2020.03.057_bib45","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/sj.jp.7210598","article-title":"Caudal regression syndrome versus sirenomelia: a case report","volume":"22","author":"Das","year":"2002","journal-title":"J\u00a0Perinatol"},{"key":"10.1016\/j.wneu.2020.03.057_bib46","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1055\/s-2007-963212","article-title":"Spinal sonography in newborns and infants\u2014part II: spinal dysraphism and tethered cord","volume":"29","author":"Deeg","year":"2007","journal-title":"Ultraschall Med"},{"key":"10.1016\/j.wneu.2020.03.057_bib47","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1159\/000451080","article-title":"Think of the conus medullaris at the time of diagnosis of fetal sacral agenesis","volume":"42","author":"Mottet","year":"2017","journal-title":"Fetal Diagn Ther"},{"key":"10.1016\/j.wneu.2020.03.057_bib48","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.2484\/rcr.v10i1.1049","article-title":"In utero diagnosis of caudal regression syndrome","volume":"10","author":"Negrete","year":"2015","journal-title":"Radiol Case Rep"},{"key":"10.1016\/j.wneu.2020.03.057_bib49","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1097\/01241398-199111000-00008","article-title":"Caudal regression","volume":"11","author":"Guidera","year":"1991","journal-title":"J\u00a0Pediatr Orthop"},{"key":"10.1016\/j.wneu.2020.03.057_bib50","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1177\/2192568218779984","article-title":"Surgical correction of spinopelvic instability in children with caudal regression syndrome","volume":"9","author":"Vissarionov","year":"2018","journal-title":"Global Spine J"},{"key":"10.1016\/j.wneu.2020.03.057_bib51","doi-asserted-by":"crossref","first-page":"230","DOI":"10.3390\/ijms18010230","article-title":"Growth hormone (GH) and rehabilitation promoted distal innervation in a child affected by caudal regression syndrome","volume":"18","author":"Devesa","year":"2017","journal-title":"Int J Mol Sci"}],"container-title":["World Neurosurgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S187887502030526X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S187887502030526X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T09:56:12Z","timestamp":1716026172000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S187887502030526X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":51,"alternative-id":["S187887502030526X"],"URL":"https:\/\/doi.org\/10.1016\/j.wneu.2020.03.057","relation":{},"ISSN":["1878-8750"],"issn-type":[{"value":"1878-8750","type":"print"}],"subject":[],"published":{"date-parts":[[2020,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Caudal Regression Syndrome\u2014A Review Focusing on Genetic Associations","name":"articletitle","label":"Article Title"},{"value":"World Neurosurgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.wneu.2020.03.057","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}