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Many patients with <jats:italic>SMAD4<\/jats:italic> PV also show signs of hereditary hemorrhagic telangiectasia (HHT) and some patients have aneurysms and dissections of the thoracic aorta. Here we describe two patients with a germline <jats:italic>SMAD4<\/jats:italic> PV and a remarkable clinical presentation including multiple medium\u2010sized arterial aneurysms. More data are needed to confirm whether the more extensive vascular phenotype and the other described features in our patients are indeed part of a broader JPS spectrum.<\/jats:p>","DOI":"10.1002\/ajmg.a.63605","type":"journal-article","created":{"date-parts":[[2024,5,16]],"date-time":"2024-05-16T10:43:36Z","timestamp":1715856216000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Large\u2010 and medium\u2010sized arterial aneurysms in two patients with <scp><i>SMAD4<\/i><\/scp>\u2010related juvenile polyposis syndrome"],"prefix":"10.1002","volume":"194","author":[{"given":"Wenneke","family":"van Weelden","sequence":"first","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fonnet E.","family":"Bleeker","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"},{"name":"Department of Clinical Genetics Netherlands Cancer Institute  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"van Stijn","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology, Rheumatology and Infectious Disease Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitra","family":"Micha","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Maugeri","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taco W.","family":"Kuijpers","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology, Rheumatology and Infectious Disease Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arjun D.","family":"Koch","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Erasmus MC Cancer Institute, University Medical Center  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cora M.","family":"Aalfs","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"},{"name":"Department of Clinical Genetics University Medical Center, Utrecht  Utrecht the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"Wagner","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Cancer Institute, University Medical Center Rotterdam  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarten","family":"Groenink","sequence":"additional","affiliation":[{"name":"Department of Cardiology Academic Medical Center  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jakob","family":"van Oldenrijk","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery and Sport Medicine Erasmus University Medical Center  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marieke J.","family":"Baars","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8165-1662","authenticated-orcid":false,"given":"Floor A. 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