{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T00:18:37Z","timestamp":1793060317424,"version":"4.5.0"},"reference-count":29,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,15]],"date-time":"2020-08-15T00:00:00Z","timestamp":1597449600000},"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":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aicardi syndrome (AIC) is a rare congenital neurodevelopmental disorder of unknown etiology, that affects almost exclusively females, originally characterized by corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. The current diagnostic criteria also include qualitative facial features (prominent premaxilla, upturned nasal tip, decreased nasal bridge angle, sparse lateral eyebrows, and microphthalmia) that still need quantification. A three\u2010dimensional (3D) photogrammetric assessment of 11 Italian females, age 7\u201332\u2009years, who satisfied AIC criteria, was performed. Linear distances and angles were computed from soft\u2010tissue facial landmarks coordinates. The <jats:italic>z<\/jats:italic>\u2010score values were calculated using data of 850 healthy reference females matched for age and compared by Mann\u2013Whitney test (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.01). Patients showed a shorter philtrum and right side orbital height (mean <jats:italic>z<\/jats:italic>\u2010scores: \u22121.7, \u22120.9), shorter superior, middle, and inferior facial depths (mean <jats:italic>z<\/jats:italic>\u2010scores: \u22121.3, \u22122.2, \u22122.3), and a smaller length of mandibular ramus (mean <jats:italic>z<\/jats:italic>\u2010score: \u22122.1); conversely, they showed larger nasal and lower facial widths, and lower facial convexity (mean <jats:italic>z<\/jats:italic>\u2010scores: 1.7, 1.4, 2.4). The inclinations of the orbit versus the true horizontal were increased bilaterally (mean <jats:italic>z<\/jats:italic>\u2010scores: 1.8, 1.1). Some common facial abnormalities were quantified in AIC patients using a noninvasive instrument. They may help clinicians in performing a definite AIC diagnosis in atypical or doubt cases.<\/jats:p>","DOI":"10.1002\/ajmg.a.61791","type":"journal-article","created":{"date-parts":[[2020,8,15]],"date-time":"2020-08-15T07:58:51Z","timestamp":1597478331000},"page":"2325-2332","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<scp>3D<\/scp> facial morphometry in Italian patients affected by Aicardi syndrome"],"prefix":"10.1002","volume":"182","author":[{"given":"Silvia","family":"Masnada","sequence":"first","affiliation":[{"name":"Department of Child Neurology V. Buzzi Children's Hospital  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), Dipartimento di Scienze Biomediche per la Salute Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Dolci","sequence":"additional","affiliation":[{"name":"Functional Anatomy Research Center (FARC), Laboratorio di Anatomia Funzionale dell'Apparato Stomatognatico (LAFAS), Dipartimento di Scienze Biomediche per la Salute Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"De Giorgis","sequence":"additional","affiliation":[{"name":"IRCCS Mondino Foundation  Pavia 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), Dipartimento di Scienze Biomediche per la Salute Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierangelo","family":"Veggiotti","sequence":"additional","affiliation":[{"name":"Department of Child Neurology V. Buzzi Children's Hospital  Milan Italy"},{"name":"Department of Biomedical and Clinical Sciences, L. Sacco University of Milan  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), Dipartimento di Scienze Biomediche per la Salute Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Italian Aicardi Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2003.11.011"},{"key":"e_1_2_9_3_1","first-page":"609","article-title":"A new syndrome: Spasms in flexion, callosal, agenesis, ocular abnormalities","volume":"19","author":"Aicardi J.","year":"1965","journal-title":"Electroencephalography and Clinical Neurophysiology"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32612"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.2319\/111008-570"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2009.09.036"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ca.23034"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0615-4"},{"key":"e_1_2_9_9_1","volume-title":"Anthropometry of the head and face","author":"Farkas L. 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