{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:42:39Z","timestamp":1786650159651,"version":"build-2736575974"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Bohring-Opitz syndrome (BOS) is a rare, sporadic genetic disorder, characterized by feeding difficulties, developmental delay, flexion abnormalities, dysmorphic facial features and typical body posture (BOS posture). This syndrome is diagnosed on the basis of distinctive clinical features with or without confirmation by genetic studies. Cardiac abnormalities are seen in almost half of the patients, but are nonspecific. We present a case of a 3-week-old male baby with BOS who was referred to our hospital with congestive heart failure, seizures and failure to thrive. He was diagnosed to have double outlet right ventricle and aortopulmonary window (DORV and APW). To our knowledge, this is the first case of Bohring-Opitz Syndrome ever reported with such clinical presentation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/jfmpc.jfmpc_74_19","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T01:06:00Z","timestamp":1553735160000},"page":"1279-1281","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome"],"prefix":"10.4103","volume":"8","author":[{"given":"Bhupendra","family":"Verma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhishek","family":"Abhinay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amrita","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manu","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-94-20260109","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/ng.868","article-title":"De novo nonsense mutations ein ASXL1 cause Bohring-Opitz syndrome","volume":"43","author":"Hoischen","year":"2011","journal-title":"Nat Genet"},{"key":"R2-94-20260109","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<438::AID-AJMG2>3.0.CO;2-A","article-title":"Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?","volume":"85","author":"Bohring","year":"1999","journal-title":"Am J Med Genet"},{"key":"R3-94-20260109","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/ejhg.2010.234","article-title":"Bohring\u2013Opitz (Oberklaid\u2013Danks) syndrome: Clinical study, review of the literature, and discussion of possible pathogenesis","volume":"19","author":"Hastings","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"R4-94-20260109","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1002\/ajmg.a.35265","article-title":"Two novel patients with Bohring\u2013Opitz syndrome caused by de novo ASXL1 mutations","volume":"158A","author":"Magini","year":"2012","journal-title":"Am J Med Genet A"},{"key":"R5-94-20260109","doi-asserted-by":"crossref","first-page":"245","DOI":"10.4103\/0971-9784.135887","article-title":"Aortopulmonary window and double outlet right ventricle: A rare combination","volume":"17","author":"Das","year":"2014","journal-title":"Ann Card Anaesth"},{"key":"R6-94-20260109","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1002\/ajmg.a.31265","article-title":"New cases of Bohring-Opitz syndrome, update, and critical review of the literature","volume":"140","author":"Bohring","year":"2006","journal-title":"Am J Med Genet A"},{"key":"R7-94-20260109","doi-asserted-by":"crossref","first-page":"2122","DOI":"10.1002\/ajmg.a.37131","article-title":"Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance","volume":"167A","author":"Russell","year":"2015","journal-title":"Am J Med Genet A"},{"key":"R9-94-20260109","first-page":"161","article-title":"Double outlet right ventricle and aortopulmonary window in a patient with Cornelia de Lange syndrome: A novel association","volume":"20","author":"Akdeniz","year":"2009","journal-title":"Genet Couns"},{"key":"R10-94-20260109","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1017\/S1047951115000049","article-title":"Surgical approach to a rare case of double-outlet right ventricle and aortopulmonary window","volume":"26","author":"Tunks","year":"2016","journal-title":"Cardiol Young"}],"container-title":["Journal of Family Medicine and Primary Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01697686-201908030-00094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:04:58Z","timestamp":1786647898000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01697686-201908030-00094"}},"subtitle":["First case report"],"short-title":[],"issued":{"date-parts":[[2019,3]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.4103\/jfmpc.jfmpc_74_19","relation":{},"ISSN":["2249-4863"],"issn-type":[{"value":"2249-4863","type":"print"}],"subject":[],"published":{"date-parts":[[2019,3]]}}}