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A detailed analysis of the face could facilitate diagnosis of ATS, as approximately 30% of patients do not show variants in <jats:italic>KCNJ2<\/jats:italic> gene, and diagnosis is established by clinical findings. We aimed to characterize the face in ATS through a quantitative approach, as facial anomalies may be unnoticed on visual inspection. Facial images of 12 subjects with genetically confirmed ATS (six males, six females, age 5\u201367\u2009years) were acquired through stereophotogrammetry. Using 38 soft\u2010tissue landmarks, linear distances, angles, and ratios were calculated and expressed as z\u2010score values, with reference to 477 healthy subjects matched for sex and age. All patients showed decreased lower facial height with shortening of philtrum (mean z\u2010score\u2009\u00b1\u2009<jats:italic>SD<\/jats:italic>: \u22121.5\u2009\u00b1\u20090.9), smaller mid and lower facial depths (\u22121.9\u2009\u00b1\u20090.7; \u22122.3\u2009\u00b1\u20090.9), short palpebral fissures (right \u22121.2\u2009\u00b1\u20090.4; left \u22121.6\u2009\u00b1\u20090.6), smaller mandibular ramus length (\u22122.1\u2009\u00b1\u20090.4), and increased nasal width\/length ratio (1.4\u2009\u00b1\u20090.5) with smaller nostril axis length (right \u22121.8\u2009\u00b1\u20090.8, left \u22121.6\u2009\u00b1\u20090.7). Hypertelorism and low\u2010set ears were detected in two\u2010thirds of patients. The study quantified facial dysmorphysm in ATS, extending information about known features, and detecting unrecorded philtrum and nostril characteristics, which may be distinctive traits of the disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.62040","type":"journal-article","created":{"date-parts":[[2020,12,25]],"date-time":"2020-12-25T09:52:49Z","timestamp":1608889969000},"page":"781-789","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Distinctive facial features in <scp>Andersen\u2013Tawil<\/scp> syndrome: A three\u2010dimensional stereophotogrammetric analysis"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3060-4097","authenticated-orcid":false,"given":"Claudia","family":"Dolci","sequence":"first","affiliation":[{"name":"Functional Anatomy Research Center (FARC), Laboratorio di Anatomia Funzionale dell'Apparato Stomatognatico (LAFAS) Department of Biomedical Sciences for Health, Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria A.","family":"Sansone","sequence":"additional","affiliation":[{"name":"NEuroMuscularOmnicenter, NEMO Clinical Center, Neurorehabilitation Unit Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Gibelli","sequence":"additional","affiliation":[{"name":"Functional Anatomy Research Center (FARC), Laboratorio di Anatomia Funzionale dell'Apparato Stomatognatico (LAFAS) Department of Biomedical Sciences for Health, Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Cappella","sequence":"additional","affiliation":[{"name":"Functional Anatomy Research Center (FARC), Laboratorio di Anatomia Funzionale dell'Apparato Stomatognatico (LAFAS) Department of Biomedical Sciences for Health, Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6532-6464","authenticated-orcid":false,"given":"Chiarella","family":"Sforza","sequence":"additional","affiliation":[{"name":"Functional Anatomy Research Center (FARC), Laboratorio di Anatomia Funzionale dell'Apparato Stomatognatico (LAFAS) Department of Biomedical Sciences for Health, Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1113\/JP271930"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2009.08.032"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/342360"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.11.006"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2018.02.012"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<147::AID-AJMG9>3.0.CO;2-0"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmpb.2006.10.005"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000178888.03767.74"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2009.09.036"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ca.23034"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31818530a7"},{"key":"e_1_2_10_13_1","volume-title":"Anthropometry of the head and face","author":"Farkas L. 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