{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:51:34Z","timestamp":1792021894207,"version":"4.4.0"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,12]]},"abstract":"\n Purpose of review<\/jats:title>\n The current review aims to discuss the incorporation of facial recognition software into the clinical practice of dysmorphology and medical genetics.<\/jats:p>\n <\/jats:sec>\n \n Recent findings<\/jats:title>\n Facial recognition software has improved the process of generating a differential diagnosis for rare genetic syndromes, and recent publications demonstrate utility in both research and clinical applications. Software programs are freely available to verified medical providers and can be incorporated into routine clinic encounters.<\/jats:p>\n <\/jats:sec>\n \n Summary<\/jats:title>\n As facial recognition software capabilities improve, two-dimensional image capture with artificial intelligence interpretation may become a useful tool within many areas of medicine. Geneticists and researchers can use such software to enhance their differential diagnoses, to study similarities and differences between patient cohorts, and to improve the interpretation of genomic data. Pediatricians and subspecialists may use tools to identify patients who may benefit from a genetic evaluation, and educators can use these tools to interest students in the study of dysmorphoplogy and genetic syndromes.<\/jats:p>\n <\/jats:sec>","DOI":"10.1097\/mop.0000000000000677","type":"journal-article","created":{"date-parts":[[2018,8,23]],"date-time":"2018-08-23T01:03:54Z","timestamp":1534986234000},"page":"701-706","source":"Crossref","is-referenced-by-count":35,"title":["Facial recognition software in clinical dysmorphology"],"prefix":"10.1097","volume":"30","author":[{"given":"Anna C.E.","family":"Hurst","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20230918","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1111\/j.1601-6343.2009.01455.x","article-title":"Genetic studies of craniofacial anomalies: clinical implications and applications","volume":"12","author":"Hart","year":"2009","journal-title":"Orthod Craniofac Res"},{"key":"R2-20230918","doi-asserted-by":"crossref","first-page":"F255","DOI":"10.1136\/adc.2006.110619","article-title":"Dysmorphology demystified","volume":"92","author":"Reardon","year":"2007","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"R3-20230918","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/ng.646","article-title":"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome","volume":"42","author":"Ng","year":"2010","journal-title":"Nat Genet"},{"key":"R4-20230918","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1002\/ajmg.a.34157","article-title":"Automated syndrome detection in a set of clinical facial photographs","volume":"155","author":"Boehringer","year":"2011","journal-title":"Am J Med Genet Part A"},{"key":"R5-20230918","doi-asserted-by":"crossref","first-page":"e02020","DOI":"10.7554\/eLife.02020","article-title":"Diagnostically relevant facial gestalt information from ordinary photos","volume":"3","author":"Ferry","year":"2014","journal-title":"eLife"},{"key":"R6-20230918","first-page":"3670","article-title":"Automated Down syndrome detection using facial photographs","volume":"2013","author":"Zhao","year":"2013","journal-title":"Conf Proc IEEE Eng Med Biol Soc"},{"key":"R7-20230918","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/j.media.2014.04.002","article-title":"Digital facial dysmorphology for genetic screening: hierarchical constrained local model using ICA","volume":"18","author":"Zhao","year":"2014","journal-title":"Med Image Anal"},{"key":"R8-20230918","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s12896-017-0410-1","article-title":"Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability","volume":"19","author":"Dudding-Byth","year":"2017","journal-title":"BMC Biotechnol"},{"key":"R9-20230918","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1111\/cge.12716","article-title":"Recognition of the Cornelia de Lange syndrome phenotype with Facial Dysmorphology Novel Analysis","volume":"89","author":"Basel-Vanagaite","year":"2016","journal-title":"Clin Genet"},{"key":"R10-20230918","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1002\/ajmg.a.38343","article-title":"Automatic recognition of the XLHED phenotype from facial images","volume":"173A","author":"Hadj-Rabia","year":"2017","journal-title":"Am J Med Genet Part A"},{"key":"R11-20230918","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1111\/cge.13087","article-title":"Next generation phenotyping in Emanuel and Pallister\u2013Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos","volume":"93","author":"Liehr","year":"2018","journal-title":"Clin Genet"},{"key":"R12-20230918","doi-asserted-by":"crossref","first-page":"e20162028","DOI":"10.1542\/peds.2016-2028","article-title":"Computer-aided recognition of facial attributes for fetal alcohol spectrum disorders","volume":"140","author":"Valentine","year":"2017","journal-title":"Pediatrics"},{"key":"R13-20230918","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1111\/cge.12948","article-title":"Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator","volume":"92","author":"Lumaka","year":"2017","journal-title":"Clin Genet"},{"key":"R14-20230918","doi-asserted-by":"crossref","first-page":"e000137","DOI":"10.1136\/bmjpo-2017-000137","article-title":"Digital assessment of the fetal alcohol syndrome facial phenotype: reliability and agreement study","volume":"191","author":"Tsang","year":"2017","journal-title":"BMJ Paediatr Open"},{"key":"R15-20230918","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1002\/ajmg.a.37672","article-title":"The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. 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