{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:07:02Z","timestamp":1756339622939,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,8,26]]},"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:p>Bernard-Soulier syndrome (BSS) is a rare congenital bleeding disorder of the platelet, and it is mainly inherited as an autosomal recessive trait. It is caused by both qualitative and quantitative deficiency of the platelet membrane glycoprotein (GP) Ib-IX-V receptor complex, thereby causing abnormal platelets adhesion.<\/jats:p>\n               <jats:p>We report a case of a primigravida in her 20s with history of BSS diagnosed in childhood due to family history. Her preconception period was challenging as she suffered from severe menorrhagia often requiring hospital admission, blood and platelet transfusions.<\/jats:p>\n               <jats:p>At 35 weeks gestation, she developed temporal crowded retinal detachment of the left eye and had a successful left scleral buckling surgery under general anaesthesia (GA).<\/jats:p>\n               <jats:p>She had a multidisciplinary team care with a successful elective GA caesarean section at 39+3 weeks gestation with peridelivery platelet transfusion and intravenous recombinant factor VIIa. Regional anaesthesia, intramuscular injections and anticoagulation were avoided.<\/jats:p>","DOI":"10.1136\/bcr-2022-250405","type":"journal-article","created":{"date-parts":[[2022,8,31]],"date-time":"2022-08-31T09:40:15Z","timestamp":1661938815000},"page":"e250405","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Bernard-Soulier syndrome in pregnancy with retinal detachment: a rare phenomenon"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7799-6120","authenticated-orcid":false,"given":"Nnadozie","family":"Igbokwe","sequence":"first","affiliation":[{"name":"Centre for Reproductive Medicine and Surgery, St Bartholomew's Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary","family":"Benson","sequence":"additional","affiliation":[{"name":"Haemophilia and Thrombosis Centre, Belfast City Hospital Health and Social Services Trust, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce","family":"Waireri","sequence":"additional","affiliation":[{"name":"Obstetrics and gynaecology, Royal Jubilee Maternity Service, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,8,31]]},"reference":[{"key":"2025082712452510000_15.8.e250405.1","doi-asserted-by":"crossref","first-page":"A131.1","DOI":"10.1136\/archdischild-2014-306576.380","article-title":"PMM.24\u2005The management of Bernard Soulier Syndrome in Pregnancy","volume":"99","author":"Halabi","year":"2014","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"2025082712452510000_15.8.e250405.2","first-page":"457","article-title":"Bernard-Soulier syndrome complicating pregnancy: a case report","volume":"73","author":"Peaceman","year":"1989","journal-title":"Obstet Gynecol"},{"key":"2025082712452510000_15.8.e250405.3","doi-asserted-by":"crossref","first-page":"838","DOI":"10.4236\/ojog.2019.96082","article-title":"Bernard-Soulier syndrome in pregnancy: a case report","volume":"09","author":"Perez","year":"2019","journal-title":"Open J Obstet Gynecol"},{"key":"2025082712452510000_15.8.e250405.4","doi-asserted-by":"crossref","DOI":"10.1186\/s13104-015-1145-5","article-title":"Primigravida with Bernard-Soulier syndrome: a case report","volume":"8","author":"Mac\u00eado","year":"2015","journal-title":"BMC Res Notes"},{"key":"2025082712452510000_15.8.e250405.5","first-page":"e193","article-title":"Management of inherited bleeding disorders in pregnancy","volume":"124","year":"2017","journal-title":"BJOG: Int J Obstet Gy"},{"key":"2025082712452510000_15.8.e250405.6","doi-asserted-by":"crossref","first-page":"1524","DOI":"10.1182\/blood.V69.5.1524.1524","article-title":"Glycoprotein Ib and glycoprotein IX are fully complexed in the intact platelet membrane","volume":"69","author":"Du","year":"1987","journal-title":"Blood"},{"key":"2025082712452510000_15.8.e250405.7","doi-asserted-by":"publisher","DOI":"10.1576\/toag.11.3.177.27502"},{"key":"2025082712452510000_15.8.e250405.8","doi-asserted-by":"crossref","first-page":"219","DOI":"10.2147\/JBM.S71319","article-title":"Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options","volume":"6","author":"Solh","year":"2015","journal-title":"J Blood Med"},{"key":"2025082712452510000_15.8.e250405.9","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-0734.2001.00052.x"},{"key":"2025082712452510000_15.8.e250405.10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2257.2002.00451.x"},{"key":"2025082712452510000_15.8.e250405.11","unstructured":"NORD (National Organization for Rare Disorders) . Bernard-Soulier Syndrome [Internet]. Available: https:\/\/rarediseases.org\/rare-diseases\/bernard-soulier-syndrome\/ [Accessed 3 Apr 2022]."},{"key":"2025082712452510000_15.8.e250405.12","doi-asserted-by":"crossref","first-page":"584-91","DOI":"10.1111\/j.1365-2516.2009.02137.x","article-title":"Bernard Soulier syndrome in pregnancy: a systematic review","volume":"16","author":"Peitsidis","year":"2010","journal-title":"Haemophilia"},{"key":"2025082712452510000_15.8.e250405.13","doi-asserted-by":"crossref","first-page":"62","DOI":"10.4103\/jovr.jovr_195_17","article-title":"Management of retinal diseases in pregnant patients","volume":"13","author":"Rosenthal","year":"2018","journal-title":"J Ophthalmic Vis Res"},{"key":"2025082712452510000_15.8.e250405.14","doi-asserted-by":"crossref","first-page":"129","DOI":"10.17305\/bjbms.2011.2598","article-title":"Bilateral retinal detachment in a case of preeclampsia","volume":"11","author":"Sre\u0107kovi\u0107","year":"2011","journal-title":"Bosn J Basic Med Sci"},{"key":"2025082712452510000_15.8.e250405.15","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1055\/s-2008-1064932","article-title":"Fetomaternal platelet immunization associated with maternal Bernard-Soulier syndrome","volume":"25","author":"Uotila","year":"2008","journal-title":"Am J Perinatol"},{"key":"2025082712452510000_15.8.e250405.16","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1111\/j.1447-0756.2005.00240.x","article-title":"Successful pregnancy outcome in Bernard-Soulier syndrome","volume":"31","author":"Kriplani","year":"2005","journal-title":"J Obstet Gynaecol Res"},{"key":"2025082712452510000_15.8.e250405.17","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(91)90110-D"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-250405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:45:34Z","timestamp":1756323934000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-250405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8]]},"references-count":17,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2022,8,31]]},"published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1136\/bcr-2022-250405"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-250405","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,8]]}}}