{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:07:14Z","timestamp":1784293634210,"version":"3.55.0"},"reference-count":9,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,11,30]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>A late preterm (ex 35 weeks\u2019 gestation) male infant was referred at 5 weeks of age (term corrected) with respiratory distress and feeding difficulties which had been present since birth. Examination revealed hypertrichosis, coarse features, a harsh continuous murmur and 2\u2009cm hepatomegaly. His echocardiogram identified a patent ductus arteriosus which failed initial medical treatment and required early device closure. Structural heart disease alongside characteristic phenotypic features, including hypertrichosis and coarse facial features, prompted targeted genetic evaluation which confirmed a pathogenic ABCC9 variant, diagnostic of Cant\u00fa syndrome. The early recognition of this rare diagnosis enabled coordinated multidisciplinary care and family counselling. This case expands the literature by highlighting early neonatal presentation and the importance of clinical suspicion based on characteristic features.<\/jats:p>","DOI":"10.1136\/bcr-2025-270077","type":"journal-article","created":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T04:05:18Z","timestamp":1766117118000},"page":"e270077","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the literature on Cant\u00fa syndrome: recognising early clinical and phenotypic clues"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9594-3789","authenticated-orcid":false,"given":"Lisa","family":"Corley","sequence":"first","affiliation":[{"name":"Department of General Paediatrics, Children\u2019s Health Ireland at Crumlin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esme","family":"Dunne","sequence":"additional","affiliation":[{"name":"Department of Paediatric Cardiology, Children\u2019s Health Ireland at Crumlin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terence","family":"Prendiville","sequence":"additional","affiliation":[{"name":"Department of Paediatric Cardiology, Children\u2019s Health Ireland at Crumlin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Donnelly","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics, Children\u2019s Health Ireland at Crumlin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,12,18]]},"reference":[{"key":"2025121820051215000_18.12.e270077.1","unstructured":"Grange DK , Nichols CG , Singh GK , et al . Cant\u00fa syndrome. In: Adam MP , Feldman J , Mirzaa GM , eds. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle, 2020: 1993\u20132025."},{"key":"2025121820051215000_18.12.e270077.2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00154.2022"},{"key":"2025121820051215000_18.12.e270077.3","unstructured":"Grange DK , Nichols CG , Singh GK , et al . Cant\u00fa syndrome and related disorders. In: Pagon RA , Adam MP , Ardinger HH , eds. GeneReviews\u00ae [Internet]. Seattle (WA: University of Washington, Seattle, 1993."},{"key":"2025121820051215000_18.12.e270077.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31348"},{"key":"2025121820051215000_18.12.e270077.5","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.112.300514"},{"key":"2025121820051215000_18.12.e270077.6","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281261"},{"key":"2025121820051215000_18.12.e270077.7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31753"},{"key":"2025121820051215000_18.12.e270077.8","first-page":"464","article-title":"Expanding the spectrum of Cantu syndrome: a case series and literature review","volume":"182","author":"Rafique","year":"2020","journal-title":"Am J Med Genet A"},{"key":"2025121820051215000_18.12.e270077.9","first-page":"103619","article-title":"Cantu syndrome: distinct facial features and hypertrichosis in a patient with a novel ABCC9 variant","volume":"62","author":"Lehman","year":"2019","journal-title":"Eur J Med Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-270077","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T04:05:20Z","timestamp":1766117120000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-270077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":9,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,12,18]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1136\/bcr-2025-270077"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-270077","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]}}}