{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T06:04:43Z","timestamp":1773295483509,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,14]],"date-time":"2020-03-14T00:00:00Z","timestamp":1584144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. The diagnostic criteria of HHT, or Cura\u00e7ao criteria, include the following: recurrent epistaxis or nighttime nose bleeding, mucocutaneous telangiectases, visceral arteriovenous malformation, or an appropriate family history. The diagnosis is classified as definite if three criteria are present, possible if two criteria are present, and unlikely if only one is present. Nowadays, the confirmation of HHT diagnosis is based on molecular genetic studies. It has been showed that only mutations of genes encoding proteins within the transforming growth factor beta signaling pathway were responsible for the manifestation of the disease. The vein of Galen malformation (VOGM) as a presenting sign of HHT is rare. The prenatal diagnosis of HHT is even rarer. Herein, we present a case of prenatally diagnosed case of HHT based on the presence of VOGM in the fetus. To our knowledge, it is the first time that the gene mutation discovered in this case manifested as VOGM in the fetal life.<\/jats:p>","DOI":"10.1002\/ajmg.a.61535","type":"journal-article","created":{"date-parts":[[2020,3,14]],"date-time":"2020-03-14T11:03:20Z","timestamp":1584183800000},"page":"1255-1258","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["An <i>ACVRL1<\/i> gene mutation presenting as vein of Galen malformation at prenatal diagnosis"],"prefix":"10.1002","volume":"182","author":[{"given":"Caterina","family":"De Luca","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital Brugmann, Universit\u00e9 Libre de Bruxelles  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Bevilacqua","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital Brugmann, Universit\u00e9 Libre de Bruxelles  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5251-6023","authenticated-orcid":false,"given":"Dominique A.","family":"Badr","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital Brugmann, Universit\u00e9 Libre de Bruxelles  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mieke M.","family":"Cannie","sequence":"additional","affiliation":[{"name":"Department of Radiology University Hospital Brugmann, Universit\u00e9 Libre de Bruxelles  Brussels Belgium"},{"name":"Department of Radiology UZ Brussel, Vrije Universiteit Brussel  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa C.","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital Brugmann, Universit\u00e9 Libre de Bruxelles  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Segers","sequence":"additional","affiliation":[{"name":"Department of Feto\u2010Pathology University Hospital Brugmann, Universit\u00e9 Libre de Bruxelles  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathelijn","family":"Keymolen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics UZ Brussel, Vrije Universiteit Brussel  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques C.","family":"Jani","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital Brugmann, Universit\u00e9 Libre de Bruxelles  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,3,14]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Hereditary hemorrhagic telangiectasia and ACVRL1","author":"Bayrak\u2010Toydemir P.","year":"2018"},{"issue":"4","key":"e_1_2_8_3_1","first-page":"181","article-title":"ACVRL1 gene variant in a patient with vein of Galen aneurysmal malformation","volume":"2","author":"Chida A.","year":"2013","journal-title":"Journal of Pediatric Genetics"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.11188"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2011.629250"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.35"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.32.4.877"},{"key":"e_1_2_8_8_1","first-page":"1016","article-title":"Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia","volume":"21","author":"Matsubara S.","year":"2000","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_8_9_1","volume-title":"GeneReviews\u00ae [internet]","author":"McDonald J.","year":"2000"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1996.85.1.0001"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4869"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2008.01786.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-0961"}],"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.61535","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61535","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61535","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61535","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T20:46:00Z","timestamp":1694033160000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61535"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,14]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1002\/ajmg.a.61535"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61535","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,14]]},"assertion":[{"value":"2019-12-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}