{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T14:07:10Z","timestamp":1784297230079,"version":"3.55.0"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,8,28]],"date-time":"2021-08-28T00:00:00Z","timestamp":1630108800000},"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":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cant\u00fa syndrome (CS) is an extremely rare autosomal dominant hereditary disease characterized by congenital hypertrichosis, distinct coarse facial features, cardiac defects, and other abnormalities in the skeletal and neurological systems. At present, cases with pathognomonic clinical manifestations are increasingly confirmed by genetic analysis. Two causative genes for CS are the well\u2010known <jats:italic>ABCC9<\/jats:italic> and the more rarely reported <jats:italic>KCNJ8<\/jats:italic>. Here, we report three Vietnamese children with CS, confirmed through genetic testing, presenting de novo <jats:italic>ABCC9<\/jats:italic> mutations. The patients shared some common clinical manifestations, including congenital hypertrichosis, distinctive facial features, and a history of polyhydramnios during pregnancy. Concerning the various cardiac and neurological problems in the lifetime of patients with CS, an accurate diagnosis and appropriate management, especially genetic counseling, should be clinically applied in CS. Thus, our findings might modestly contribute to the global CS data, providing practical insights into CS manifestations.<\/jats:p>","DOI":"10.1002\/ajmg.a.62477","type":"journal-article","created":{"date-parts":[[2021,8,28]],"date-time":"2021-08-28T09:43:15Z","timestamp":1630143795000},"page":"377-381","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Diverse clinical manifestations of Cant\u00fa syndrome: The first case series in Vietnam"],"prefix":"10.1002","volume":"188","author":[{"given":"Tu Nguyen Anh","family":"Tran","sequence":"first","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato\u2010Venereology  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huy Ngoc","family":"Phan","sequence":"additional","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato\u2010Venereology  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoang Anh","family":"Vu","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine University of Medicine and Pharmacy at Ho Chi Minh City  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7732-0497","authenticated-orcid":false,"given":"Hao Trong","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato\u2010Venereology  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,8,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.09.009"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000264"},{"key":"e_1_2_7_4_1","volume-title":"Cant\u00fa syndrome","author":"Grange D. 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