{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T09:25:52Z","timestamp":1787995552363,"version":"build-2784847793"},"reference-count":54,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T00:00:00Z","timestamp":1675036800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR\u201010\u2010IAHU\u201001"],"award-info":[{"award-number":["ANR\u201010\u2010IAHU\u201001"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Two to three thousand syndromes modify facial features: their screening requires the eye of an expert in dysmorphology. A widely used tool in shape characterization is geometric morphometrics based on landmarks, which are precise and reproducible anatomical points. Landmark positioning is user dependent and time consuming. Many automatic landmarking tools are currently available but do not work for children, because they have mainly been trained using photographic databases of healthy adults. Here, we developed a method for building an automatic landmarking pipeline for frontal and lateral facial photographs as well as photographs of external ears. We evaluated the algorithm on patients diagnosed with Treacher Collins (TC) syndrome as it is the most frequent mandibulofacial dysostosis in humans and is clinically recognizable although highly variable in severity. We extracted photographs from the photographic database of the maxillofacial surgery and plastic surgery department of H\u00f4pital Necker\u2013Enfants Malades in Paris, France with the diagnosis of TC syndrome. The control group was built from children admitted for craniofacial trauma or skin lesions. After testing two methods of object detection by bounding boxes, a\n                    <jats:italic>Haar<\/jats:italic>\n                    Cascade\u2010based tool and a Faster Region\u2010based Convolutional Neural Network (Faster R\u2010CNN)\u2010based tool, we evaluated three different automatic annotation algorithms: the patch\u2010based active appearance model (AAM), the holistic AAM, and the constrained local model (CLM). The final error corresponding to the distance between the points placed by automatic annotation and those placed by manual annotation was reported. We included, respectively, 1664, 2044, and 1375 manually annotated frontal, profile, and ear photographs. Object recognition was optimized with the Faster R\u2010CNN\u2010based detector. The best annotation model was the patch\u2010based AAM (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001 for frontal faces,\n                    <jats:italic>p<\/jats:italic>\n                    \u00a0=\u00a00.082 for profile faces and\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001 for ears). This automatic annotation model resulted in the same classification performance as manually annotated data. Pretraining on public photographs did not improve the performance of the model. We defined a pipeline to create automatic annotation models adapted to faces with congenital anomalies, an essential prerequisite for research in dysmorphology.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63126","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T04:23:11Z","timestamp":1675052591000},"page":"1210-1221","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["An automatic facial landmarking for children with rare diseases"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7882-8287","authenticated-orcid":false,"given":"Quentin","family":"Hennocq","sequence":"first","affiliation":[{"name":"Imagine Institute, INSERM UMR 1163  Paris France"},{"name":"D\u00e9partement de chirurgie maxillo\u2010faciale et chirurgie plastique p\u00e9diatrique H\u00f4pital Necker \u2013 Enfants Malades, Assistance Publique \u2013 H\u00f4pitaux de Paris, Centre de R\u00e9f\u00e9rence des Malformations Rares de la Face et de la Cavit\u00e9 Buccale MAFACE, Fili\u00e8re Maladies Rares TeteCou, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Bongibault","sequence":"additional","affiliation":[{"name":"Imagine Institute, INSERM UMR 1163  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Bizi\u00e8re","sequence":"additional","affiliation":[{"name":"Imagine Institute, INSERM UMR 1163  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ombline","family":"Delassus","sequence":"additional","affiliation":[{"name":"Imagine Institute, INSERM UMR 1163  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maxime","family":"Douillet","sequence":"additional","affiliation":[{"name":"Imagine Institute, INSERM UMR 1163  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de m\u00e9decine g\u00e9nomique H\u00f4pital Necker \u2013 Enfants Malades, Assistance Publique \u2013 H\u00f4pitaux de Paris, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de m\u00e9decine g\u00e9nomique H\u00f4pital Necker \u2013 Enfants Malades, Assistance Publique \u2013 H\u00f4pitaux de Paris, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de m\u00e9decine g\u00e9nomique H\u00f4pital Necker \u2013 Enfants Malades, Assistance Publique \u2013 H\u00f4pitaux de Paris, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Marlin","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de m\u00e9decine g\u00e9nomique H\u00f4pital Necker \u2013 Enfants Malades, Assistance Publique \u2013 H\u00f4pitaux de Paris, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Rio","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de m\u00e9decine g\u00e9nomique H\u00f4pital Necker \u2013 Enfants Malades, Assistance Publique \u2013 H\u00f4pitaux de Paris, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Picard","sequence":"additional","affiliation":[{"name":"D\u00e9partement de chirurgie maxillo\u2010faciale et chirurgie plastique p\u00e9diatrique H\u00f4pital Necker \u2013 Enfants Malades, Assistance Publique \u2013 H\u00f4pitaux de Paris, Centre de R\u00e9f\u00e9rence des Malformations Rares de la Face et de la Cavit\u00e9 Buccale MAFACE, Fili\u00e8re Maladies Rares TeteCou, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman Hossein","family":"Khonsari","sequence":"additional","affiliation":[{"name":"D\u00e9partement de chirurgie maxillo\u2010faciale et chirurgie plastique p\u00e9diatrique H\u00f4pital Necker \u2013 Enfants Malades, Assistance Publique \u2013 H\u00f4pitaux de Paris, Centre de R\u00e9f\u00e9rence des Malformations Rares de la Face et de la Cavit\u00e9 Buccale MAFACE, Fili\u00e8re Maladies Rares TeteCou, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Garcelon","sequence":"additional","affiliation":[{"name":"Imagine Institute, INSERM UMR 1163  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,30]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"Active Appearance Model. 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Lo W.\u2010Y. &Girshick R.(2019).Detectron2."},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1109\/CVPR.2013.75"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1049\/iet-cvi.2013.0171"},{"key":"e_1_2_9_53_1","unstructured":"Zhang C. &Zhang Z.(2010).A survey of recent advances in face detection."},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1109\/FG.2017.79"},{"key":"e_1_2_9_55_1","volume-title":"2012 IEEE conference on computer vision and pattern recognition","author":"Zhu X.","year":"2012"}],"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.63126","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63126","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63126","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T23:41:42Z","timestamp":1697067702000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,30]]},"references-count":54,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1002\/ajmg.a.63126"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63126","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,30]]},"assertion":[{"value":"2022-11-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}