{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:06:49Z","timestamp":1784293609130,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,2,22]],"date-time":"2011-02-22T00:00:00Z","timestamp":1298332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cant\u00fa syndrome, a rare disorder of congenital hypertrichosis, characteristic facial anomalies, cardiomegaly, and osteochondrodysplasia was first described in 1982 by Cant\u00fa. Twenty\u2010three cases of Cant\u00fa syndrome have been reported to date. The pathogenesis of this rare autosomal dominant condition is unknown. We describe 10 patients with Cant\u00fa syndrome (9 new cases and the long\u2010term follow\u2010up of a 10th case reported by Robertson in 1999) comparing the phenotype with that of the previously reported cases. We describe how the distinctive facial appearance evolves with time and report several new findings including recurrent infections with low immunoglobulin levels and gastric bleeding in some of our patients. The cardiac manifestations include patent ductus arteriosus, septal hypertrophy, pulmonary hypertension, and pericardial effusions. They may follow a benign course, but of the 10 cases we report, 4 patients required surgical closure of the patent ductus arteriosus and 1 patient a pericardectomy. Long\u2010term follow\u2010up of these patients has shown reassuring neuro\u2010developmental outcome and the emergence of a behavior phenotype including obsessive traits and anxiety. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33885","type":"journal-article","created":{"date-parts":[[2011,2,23]],"date-time":"2011-02-23T17:32:54Z","timestamp":1298482374000},"page":"508-518","source":"Crossref","is-referenced-by-count":63,"title":["Cant\u00fa syndrome: Report of nine new cases and expansion of the clinical phenotype"],"prefix":"10.1002","volume":"155","author":[{"given":"Ingrid","family":"Scurr","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Lees","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Kirk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexa","family":"Kidd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vandana","family":"Shashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christy","family":"Stanley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Berry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan D.","family":"Irvine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Goudie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Brewer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Smithson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,2,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281261"},{"key":"e_1_2_4_3_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_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10560"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970317)69:2<138::AID-AJMG5>3.0.CO;2-L"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31348"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001023)94:5<421::AID-AJMG15>3.0.CO;2-9"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<33::AID-AJMG8>3.0.CO;2-X"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<395::AID-AJMG17>3.0.CO;2-I"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199804000-00001"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31013"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33885","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33885","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T03:07:31Z","timestamp":1696993651000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33885"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,22]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,3]]}},"alternative-id":["10.1002\/ajmg.a.33885"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33885","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,22]]}}}