{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T04:31:07Z","timestamp":1792816267386,"version":"4.5.0"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T00:00:00Z","timestamp":1684540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["BT\/PR40007\/MED\/97\/490\/2020"],"award-info":[{"award-number":["BT\/PR40007\/MED\/97\/490\/2020"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cardiospondylocarpofacial syndrome (CSCF; MIM#157800) is a rare condition caused by monoallelic variants in the <jats:italic>MAP3K7<\/jats:italic> gene. The characteristic features of CSCF include growth retardation, facial dysmorphism, carpal\u2010tarsal fusion, dorsal spine synostosis, deafness, inner ear malformation, cardiac septal defect and valve dysplasia. We present here a 20\u2010week\u2010old fetus with cardiospondylocarpofacial syndrome arising from a <jats:italic>de novo<\/jats:italic> variant c.616T&gt;G p.(Tyr206Asp) in the <jats:italic>MAP3K7<\/jats:italic> (NM_145331.3) gene with early and severe tricuspid valve dysplasia as a prenatal manifestation. Fetal echocardiography revealed tricuspid regurgitation with valve\u00a0prolapse. Fetus had facial dysmorphism and dilated right atrium and right ventricle with tricuspid valve dysplasia on perinatal evaluation. To the best of our knowledge, this is the first report mentioning the prenatal manifestation of cardiospondylocarpofacial syndrome.<\/jats:p>","DOI":"10.1002\/pd.6358","type":"journal-article","created":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T23:12:45Z","timestamp":1683760365000},"page":"721-723","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T&gt;G p.(Tyr206Asp) in <i>MAP3K7<\/i>"],"prefix":"10.1002","volume":"43","author":[{"given":"Subrahmanya","family":"Vasishta","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akkatai S.","family":"Teli","sequence":"additional","affiliation":[{"name":"Department of Cardiology Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akhila","family":"Vasudeva","sequence":"additional","affiliation":[{"name":"Division of Fetal Medicine Department of Obstetrics and Gynaecology Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta M.","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9521-7031","authenticated-orcid":false,"given":"Shalini S.","family":"Nayak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24425"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010017\u20100079\u2010x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.005"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000019291"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a005207"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T07:06:07Z","timestamp":1704870367000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,20]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/pd.6358"],"URL":"https:\/\/doi.org\/10.1002\/pd.6358","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,20]]},"assertion":[{"value":"2023-02-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}