{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:07:25Z","timestamp":1784293645778,"version":"3.55.0"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,26]],"date-time":"2020-02-26T00:00:00Z","timestamp":1582675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"E-Rare Joint Transnational Cant\u00fa Treat program","award":["I-2101-B26"],"award-info":[{"award-number":["I-2101-B26"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cant\u00fa syndrome (CS) was first described in 1982, and is caused by pathogenic variants in <jats:italic>ABCC9<\/jats:italic> and <jats:italic>KCNJ8<\/jats:italic> encoding regulatory and pore forming subunits of ATP\u2010sensitive potassium (K<jats:sub>ATP<\/jats:sub>) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia, extensive cardiovascular abnormalities and distinctive facial anomalies including a broad nasal bridge, long philtrum, epicanthal folds, and prominent lips. Many genetic syndromes, such as CS, involve facial anomalies that serve as a significant clue in the initial identification of the respective disorder before clinical or molecular diagnosis are undertaken. However, an overwhelming number of CS patients receive misdiagnoses based on an evaluation of coarse facial features. By analyzing three\u2010dimensional images of CS faces, we quantified facial dysmorphology in a cohort of both male and female CS patients with confirmed <jats:italic>ABCC9<\/jats:italic> variants. Morphometric analysis of different regions of the face revealed gender\u2010specific significant differences in face shape. Moreover, we show that 3D facial photographs can distinguish between CS and other genetic disorders with specific facial dysmorphologies that have been mistaken for CS\u2010associated anomalies in the past, hence assisting in an earlier clinical and molecular diagnosis. This optimizes genetic counseling and reduces stress for patients and parents by avoiding unnecessary misdiagnosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.61517","type":"journal-article","created":{"date-parts":[[2020,2,26]],"date-time":"2020-02-26T08:16:54Z","timestamp":1582705014000},"page":"1041-1052","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Three\u2010dimensional facial morphology in Cant\u00fa syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3409-0756","authenticated-orcid":false,"given":"Helen I.","family":"Roessler","sequence":"first","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine University Medical Center Utrecht, Utrecht University  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Shields","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy K.","family":"Grange","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Center for the Investigation of Membrane Excitability Diseases (CIMED)  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nine V.A.M.","family":"Knoers","sequence":"additional","affiliation":[{"name":"Deptartment of Genetics University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gijs","family":"van Haaften","sequence":"additional","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine University Medical Center Utrecht, Utrecht University  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hammond","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke M.","family":"van Haelst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam Medical Center University of Amsterdam  Amsterdam The Netherlands"},{"name":"Department of Clinical Genetics, VU Medical Center VU University Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30959"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.prs.0000252505.52821.76"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.09.009"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2017.08.008"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.09.013"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-017-2950-8"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22555"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201798"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31348"},{"key":"e_1_2_10_11_1","volume-title":"Cantu syndrome and related disorders","author":"Grange D. 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