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Within cross\u2010sectional analysis of both genders we evaluated facial features in representative cohorts of Czech patients with Williams\u2013Beuren\u2010(WBS; 12 cases), Noonan\u2010(NS; 14), and 22q11.2 deletion syndromes (22q11.2DS; 20) and compared their age\u2010related developmental trajectories to 21 age, sex and ethnically matched controls in 3\u201318\u2009years of age. Using geometric morphometry statistically significant differences in facial morphology were found in all cases compared to controls. The dysmorphic features observed in WBS were specific and manifested in majority of cases. During ontogenesis, dysmorphic features associated with increased facial convexity become more pronounced whereas other typical features remained relatively stable. Dysmorphic features observed in NS cases were mostly apparent during childhood and gradually diminished with age. Facial development had a similar progress as in controls, while there has been increased growth of patients\u2019 nose and chin in adulthood. Facial characteristics observed in 22q11.2DS, except for hypoplastic alae nasi, did not correspond with the standard description of its facial phenotype because of marked facial heterogeneity of this clinical entity. Because of the sensitivity of 3D facial morphometry we were able to reach statistical significance even in smaller retrospective patient cohorts, which proves its clinical utility within the routine setting.<\/jats:p>","DOI":"10.1002\/ajmg.a.40659","type":"journal-article","created":{"date-parts":[[2018,10,31]],"date-time":"2018-10-31T17:09:41Z","timestamp":1541005781000},"page":"2604-2613","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Modeling age\u2010specific facial development in Williams\u2013Beuren\u2010, Noonan\u2010, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3\u201318\u2009years: A cross\u2010sectional three\u2010dimensional geometric morphometry analysis of their facial gestalt"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4428-5055","authenticated-orcid":false,"given":"Martina","family":"\u010caplovi\u010dov\u00e1","sequence":"first","affiliation":[{"name":"Department of Anthropology and Human Genetics, Faculty of Science Charles University  Prague 2 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Moslerov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Anthropology and Human Genetics, Faculty of Science Charles University  Prague 2 Czech Republic"},{"name":"Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University and Motol University Hospital  Prague 5 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e1n","family":"Dupej","sequence":"additional","affiliation":[{"name":"Department of Anthropology and Human Genetics, Faculty of Science Charles University  Prague 2 Czech Republic"},{"name":"Department of Software and Computer Science, Faculty of Mathematics and Physics Charles University  Prague 2 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Macek","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University and Motol University Hospital  Prague 5 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Zemkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University and Motol University Hospital  Prague 5 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Hoffmannov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Anthropology and Human Genetics, Faculty of Science Charles University  Prague 2 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark\u00e9ta","family":"Havlovicov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University and Motol University Hospital  Prague 5 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Velem\u00ednsk\u00e1","sequence":"additional","affiliation":[{"name":"Department of Anthropology and Human Genetics, Faculty of Science Charles University  Prague 2 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30138"},{"key":"e_1_2_7_3_1","first-page":"1","article-title":"Objective studies of the face of Noonan, cardio\u2010facio\u2010cutaneous, and Costello syndromes: A comparison of three disorders of the Ras\/MAPK signaling pathway","volume":"9999","author":"Allanson J. 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Wilamowska K. Shapiro L. &Heike C.(2009). Automatic analysis of local nasal features in 22q11.2DS affected individuals. 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