{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T21:31:25Z","timestamp":1781991085421,"version":"3.54.5"},"reference-count":39,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2023,10]]},"DOI":"10.1016\/j.jpeds.2023.113528","type":"journal-article","created":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T03:34:29Z","timestamp":1685590469000},"page":"113528","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System"],"prefix":"10.1016","volume":"261","author":[{"given":"Mary Ann","family":"Thomas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5496-5084","authenticated-orcid":false,"given":"Tanya","family":"Bedard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Crawford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Grevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Brian","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2023.113528_bib1","first-page":"243","article-title":"Associated malformations of eye and ear, particularly dermoid syndrome epibulbar-appendices, congenital auricular fistulas and its relations with Manibulofacial Dysostosis","volume":"1","author":"Goldenhar","year":"1952","journal-title":"J Genet Hum"},{"key":"10.1016\/j.jpeds.2023.113528_bib2","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/S0022-3476(63)80233-4","article-title":"Oculoauriculovertebral dysplasia","volume":"63","author":"Gorlin","year":"1963","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2023.113528_bib3","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1097\/00006534-196511000-00001","article-title":"The first and second branchial arch syndrome","volume":"36","author":"Grabb","year":"1965","journal-title":"Plast Reconstr Surg"},{"key":"10.1016\/j.jpeds.2023.113528_bib4","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1002\/ajmg.a.38576","article-title":"Clinical and cytogenomic findings in OAV spectrum","volume":"176","author":"Bragagnolo","year":"2018","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.jpeds.2023.113528_bib5","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1016\/j.jcms.2017.06.001","article-title":"Craniofacial and extracraniofacial anomalies in craniofacial macrosomia: a multicenter study of 755 patients","volume":"45","author":"Caron","year":"2017","journal-title":"J Cranio Maxillofacial Surg"},{"key":"10.1016\/j.jpeds.2023.113528_bib6","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.ejmg.2015.07.003","article-title":"Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients","volume":"58","author":"Beleza-Meireles","year":"2015","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib7","doi-asserted-by":"crossref","first-page":"2582","DOI":"10.1002\/ajmg.a.37238","article-title":"The VACTERL Association as a disturbance of cell fate determination","volume":"167A","author":"Lubinsky","year":"2015","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib8","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1038\/ejhg.2013.287","article-title":"Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe","volume":"22","author":"Barisic","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib9","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/ajmg.c.31664","article-title":"The etiology of VACTERL association: current knowledge and hypotheses","volume":"178","author":"Solomon","year":"2018","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib10","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmedgenet-2021-108219","article-title":"Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease","volume":"59","author":"Tingaud-Sequeira","year":"2022","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib11","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.1002\/ajmg.a.61847","article-title":"Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis","volume":"182","author":"Adam","year":"2020","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.jpeds.2023.113528_bib12","doi-asserted-by":"crossref","first-page":"2385","DOI":"10.1097\/SCS.0000000000006691","article-title":"European guideline craniofacial microsomia","volume":"31","author":"Renkema","year":"2020","journal-title":"J Craniofac Surg"},{"key":"10.1016\/j.jpeds.2023.113528_bib13","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1186\/1471-2431-13-59","article-title":"A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants","volume":"13","author":"Fenton","year":"2013","journal-title":"BMC Pediatr"},{"key":"10.1016\/j.jpeds.2023.113528_bib14","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.jpeds.2021.09.060","article-title":"Epidemiology of rare craniofacial anomalies: retrospective Western Australian population data linkage study","volume":"241","author":"Junaid","year":"2022","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2023.113528_bib15","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/ajmg.1320260215","article-title":"Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients","volume":"26","author":"Rollnick","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib16","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1111\/cga.12422","article-title":"Craniofacial microsomia: reflections on diagnosis and severity assessment based on a series of cases","volume":"61","author":"Bergamini","year":"2021","journal-title":"Congenit Anom (Kyoto)"},{"key":"10.1016\/j.jpeds.2023.113528_bib17","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1016\/j.ijom.2018.05.016","article-title":"Vertebral anomalies in craniofacial microsomia: a retrospective analysis of 991 patients","volume":"47","author":"Renkema","year":"2018","journal-title":"Int J Oral Maxillofac Surg"},{"key":"10.1016\/j.jpeds.2023.113528_bib18","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1002\/bdra.23560","article-title":"Characterizing facial features in individuals with craniofacial microsomia: a systematic approach for clinical research","volume":"106","author":"Heike","year":"2016","journal-title":"Birth Defects Res Part A Clin Mol Teratol"},{"key":"10.1016\/j.jpeds.2023.113528_bib19","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1597\/15-348","article-title":"Hearing loss in children with craniofacial microsomia","volume":"54","author":"Mitchell","year":"2017","journal-title":"Cleft Palate Craniofac J"},{"key":"10.1016\/j.jpeds.2023.113528_bib20","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.ejmg.2005.04.015","article-title":"Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification","volume":"48","author":"Tasse","year":"2005","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib21","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1002\/dvdy.20833","article-title":"Recent advances in craniofacial morphogenesis","volume":"235","author":"Chai","year":"2006","journal-title":"Dev Dyn"},{"key":"10.1016\/j.jpeds.2023.113528_bib22","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/jmedgenet-2014-102476","article-title":"Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update","volume":"51","author":"Beleza-Meireles","year":"2014","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib23","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/0030-4220(73)90070-4","article-title":"The pathogenesis of the first and second branchial arch syndrome. Oral Surgery","volume":"35","author":"Poswillo","year":"1973","journal-title":"Oral Med Oral Pathol"},{"key":"10.1016\/j.jpeds.2023.113528_bib24","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1097\/00006534-197303000-00005","article-title":"On hemifacial microsomia. The first and second branchial arch syndrome","volume":"51","author":"Converse","year":"1973","journal-title":"Plast Reconstr Surg"},{"key":"10.1016\/j.jpeds.2023.113528_bib25","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/bdra.20022","article-title":"Vasoactive exposures, vascular events, and hemifacial microsomia","volume":"70","author":"Werler","year":"2004","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"10.1016\/j.jpeds.2023.113528_bib26","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1067\/mpd.2002.128891","article-title":"Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach","volume":"141","author":"Wang","year":"2002","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2023.113528_bib27","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1055\/s-0040-1712118","article-title":"Microarray-based comparative genomic hybridization, multiplex ligation-dependent probe amplification, and high-resolution karyotype for differential diagnosis oculoauriculovertebral spectrum: a systematic review","volume":"09","author":"Glaeser","year":"2020","journal-title":"J Pediatr Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib28","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-021-24852-9","article-title":"Haploinsufficiency of SF3B2 causes craniofacial microsomia","volume":"12","author":"Timberlake","year":"2021","journal-title":"Nat Commun"},{"key":"10.1016\/j.jpeds.2023.113528_bib29","doi-asserted-by":"crossref","first-page":"2860","DOI":"10.1002\/ajmg.a.33034","article-title":"Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2","volume":"149A","author":"Digilio","year":"2009","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib30","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/ajmg.c.31857","article-title":"Genomic imbalances in craniofacial microsomia","volume":"184","author":"Spineli-Silva","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib31","doi-asserted-by":"crossref","first-page":"2624","DOI":"10.1002\/ajmg.a.61841","article-title":"Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: a systematic review","volume":"182","author":"Glaeser","year":"2020","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib32","doi-asserted-by":"crossref","first-page":"2030","DOI":"10.1002\/ajmg.a.36007","article-title":"Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication","volume":"161A","author":"Ballesta-Mart\u00ednez","year":"2013","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib33","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1136\/jmedgenet-2016-103774","article-title":"Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS","volume":"53","author":"Lopez","year":"2016","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib34","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/mgg3.1401","article-title":"MYT1 role in the microtia-craniofacial microsomia spectrum","volume":"8","author":"Luquetti","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.jpeds.2023.113528_bib35","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1002\/uog.20359","article-title":"Single umbilical artery and risk of congenital malformation: population-based study in Norway","volume":"55","author":"Ebbing","year":"2020","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.jpeds.2023.113528_bib36","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1002\/ajmg.a.62103","article-title":"Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures","volume":"185","author":"Stevenson","year":"2021","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.jpeds.2023.113528_bib37","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1542\/peds.67.2.176","article-title":"The axial mesodermal dysplasia spectrum","volume":"67","author":"Russell","year":"1981","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpeds.2023.113528_bib38","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1111\/j.1399-0004.1996.tb02397.x","article-title":"Report of a new case of axial mesodermal dysplasia complex","volume":"50","author":"Bini","year":"1996","journal-title":"Clin Genet"},{"key":"10.1016\/j.jpeds.2023.113528_bib39","series-title":"Alberta congenital anomalies surveillance system: Thirteenth report, data from 1997-2018","year":"2021"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347623003761?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347623003761?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T09:16:10Z","timestamp":1758359770000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347623003761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":39,"alternative-id":["S0022347623003761"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2023.113528","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2023.113528","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"113528"}}