{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T01:59:12Z","timestamp":1773453552413,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T00:00:00Z","timestamp":1626825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Down syndrome (DS) is typically recognizable in those who present with multiple dysmorphism, especially in regard to facial phenotypes. However, as the presentation of DS in neonates is less obvious, a phenotype\u2010based presumptive diagnosis is more challenging. Recently, an artificial intelligence (AI) application, Face2Gene, was developed to help physicians recognize specific genetic syndromes by using two\u2010dimensional facial photos. As of yet, there has not been any study comparing accuracy among physicians or applications. Our objective was to compare the facial recognition accuracy of DS in Thai neonates, using facial photographs, among physicians and the Face2Gene. Sixty\u2010four Thai neonates at Thammasat University Hospital, with genetic testing and signed parental consent, were divided into a DS group (25) and non\u2010DS group (39). Non\u2010DS was further divided into unaffected (19) and those affected with other syndromes (20). Our results revealed physician accuracy (89%) was higher than the Face2Gene (81%); however, the application was higher in sensitivity (100%) than physicians (86%). While this application can serve as a helpful assistant in facilitating any genetic syndrome such as DS, to aid clinicians in recognizing DS facial features in neonates, it is not a replacement for well\u2010trained doctors.<\/jats:p>","DOI":"10.1002\/ajmg.a.62432","type":"journal-article","created":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T11:15:42Z","timestamp":1626866142000},"page":"3701-3705","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the <scp>Face2Gene<\/scp> application"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2998-5096","authenticated-orcid":false,"given":"Wewika","family":"Srisraluang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Thammasat University  Pathumthani Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9488-4470","authenticated-orcid":false,"given":"Kitiwan","family":"Rojnueangnit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Thammasat University  Pathumthani Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,21]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"StatPearls [Internet]","author":"Akhtar F.","year":"2020"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.2.89"},{"key":"e_1_2_9_4_1","unstructured":"Gurovich Y. Hanani Y. Bar O. Fleischer N. Gelbman D. Basel\u2010Salmon L. KrawitzP. Kamphausen S. B. Zenker M. Bird L. M. &Gripp K. W.(2018).DeepGestalt\u2014identifying rare genetic syndromes using deep learning. arXiv:1801.07637v1 [cs.CV]."},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992286600500102"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.87.3.F220"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38043"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12948"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1589"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0174-3"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.046565"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40483"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1253-0"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0134525"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62432","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62432","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62432","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T10:18:43Z","timestamp":1692958723000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62432"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,21]]},"references-count":13,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/ajmg.a.62432"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62432","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,21]]},"assertion":[{"value":"2021-02-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}