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Multiple case reports of affected individuals have described the various clinical features of CS, but systematic studies are lacking. To define the effects of genetic variants on CS phenotypes and clinical outcomes, we have developed a standardized REDCap\u2010based registry for CS. We report phenotypic features and associated genotypes on 74 CS subjects, with confirmed <jats:italic>ABCC9<\/jats:italic> variants in 72 of the individuals. Hypertrichosis and a characteristic facial appearance are present in all individuals. Polyhydramnios during fetal life, hyperflexibility, edema, patent ductus arteriosus (PDA), cardiomegaly, dilated aortic root, vascular tortuosity of cerebral arteries, and migraine headaches are common features, although even with this large group of subjects, there is incomplete penetrance of CS\u2010associated features, without clear correlation to genotype.<\/jats:p>","DOI":"10.1002\/ajmg.c.31753","type":"journal-article","created":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T05:30:29Z","timestamp":1576128629000},"page":"658-681","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":69,"title":["Cant\u00fa syndrome: Findings from 74 patients in the International Cant\u00fa Syndrome Registry"],"prefix":"10.1002","volume":"181","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7425-6322","authenticated-orcid":false,"given":"Dorothy K.","family":"Grange","sequence":"first","affiliation":[{"name":"Department of Pediatrics Washington University School of Medicine  St. Louis Missouri"},{"name":"Center for the Investigation of Membrane Excitability Diseases (CIMED)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen I.","family":"Roessler","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":"Conor","family":"McClenaghan","sequence":"additional","affiliation":[{"name":"Center for the Investigation of Membrane Excitability Diseases (CIMED)"},{"name":"Department of Cell Biology and Physiology Washington University School of Medicine  St Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Duran","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":"Kathleen","family":"Shields","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Washington University School of Medicine  St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria S.","family":"Remedi","sequence":"additional","affiliation":[{"name":"Center for the Investigation of Membrane Excitability Diseases (CIMED)"},{"name":"Department of Medicine, Division of Endocrinology Washington University School of Medicine  St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nine V. 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M.","family":"Knoers","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht, Utrecht University  Utrecht the Netherlands"},{"name":"Department of Genetics University Medical Center Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin\u2010Moo","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology and Radiology Washington University School of Medicine  St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin P.","family":"Kirk","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics Sydney Children's Hospital  Randwick New South Wales Australia"},{"name":"School of Women's and Children's Health University of New South Wales  Randwick New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Scurr","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Hospitals  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah F.","family":"Smithson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Hospitals  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gautam K.","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Washington University School of Medicine  St. Louis Missouri"},{"name":"Center for the Investigation of Membrane Excitability Diseases (CIMED)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke M.","family":"van Haelst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, VU Medical Center VU University Amsterdam  Amsterdam The Netherlands"},{"name":"Department of Clinical Genetics, Amsterdam Medical Center University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin G.","family":"Nichols","sequence":"additional","affiliation":[{"name":"Center for the Investigation of Membrane Excitability Diseases (CIMED)"},{"name":"Department of Cell Biology and Physiology Washington University School of Medicine  St Louis Missouri"}],"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"}]}],"member":"311","published-online":{"date-parts":[[2019,12,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12821"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.09.009"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281261"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/pubmed\/fdv099"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000529)92:3<191::AID-AJMG6>3.0.CO;2-K"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22555"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35735"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00027.2009"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31348"},{"key":"e_1_2_9_11_1","unstructured":"Grange D. 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