{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T00:09:12Z","timestamp":1789517352707,"version":"build-2803163510"},"reference-count":22,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T00:00:00Z","timestamp":1750809600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Dijon University Hospital","award":["Not applicable"],"award-info":[{"award-number":["Not applicable"]}]},{"DOI":"10.13039\/501100008530","name":"FEDER","doi-asserted-by":"crossref","award":["Not applicable"],"award-info":[{"award-number":["Not applicable"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,6,1]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We reviewed the medical records of an international cohort of 29 patients, with a particular focus on cardiovascular features. Data were compared with those of MFS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The sex ratio was 1.9 and median age was 23 years (range: 4\u201354). 13 patients (44.8%) had mitral regurgitation (MR), 11 (37.9%) had a thoracic aortic aneurysm (TAA) and 9 (31.1%) had aortic regurgitation (AR). No cases of aortic dissection were reported. None had beta-blockers as a primary prevention of aortic events. The Kaplan-Meier method revealed a 30\u2009years risk of 47%, 33% and 22% for occurrence of MR, TAA and AR, respectively. A statistically significant association was found between variants in the Dachshund Homology Domain and the risk of aortic aneurysm (11\/20 vs 0\/9, p=0.036).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Patients with SGS also significantly have cardiovascular manifestations, encouraging the implementation of a follow-up and preventive cardiovascular treatment identical to that of MFS.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2024-110341","type":"journal-article","created":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T13:20:37Z","timestamp":1750857637000},"page":"600-606","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS"],"prefix":"10.1136","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-3348-9348","authenticated-orcid":false,"given":"Yordi-Micha\u00ebl","family":"Bouhatous","sequence":"first","affiliation":[{"name":"Clinical Genetics, University Hospital Centre Dijon Bourgogne, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9727-1592","authenticated-orcid":false,"given":"Pauline","family":"Arnaud","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Assistance Publique - Hopitaux de Paris, Paris, France"},{"name":"LVTS, INSERM U1148, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Jondeau","sequence":"additional","affiliation":[{"name":"LVTS, INSERM U1148, Paris, France"},{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, Assistance Publique - Hopitaux de Paris, Paris, \u00cele-de-France, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, Centre Hospitalier Universitaire d\u2019Angers, Angers, Pays de la Loire, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Rouleau","sequence":"additional","affiliation":[{"name":"Service m\u00e9dicochirurgical des valvulopathies, Centre Hospitalier Universitaire, Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghislaine","family":"Plessis","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, CHU Cl\u00e9menceau, Caen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Vincent","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, Centre Hospitalier Universitaire, Caen, 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Coubes","sequence":"additional","affiliation":[{"name":"Genetic Services, A. de Villeneuve Hospital, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlene","family":"Bredy","sequence":"additional","affiliation":[{"name":"Service de cardiologie, Centre Hospitalier Universitaire, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Gouya","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, AP-HP, Paris, \u00cele-de-France, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, CLAD Ouest, CHU Rennes, RENNES, 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