{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T08:22:55Z","timestamp":1778314975174,"version":"3.51.4"},"reference-count":9,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,7,11]]},"abstract":"<jats:p>Myosin heavy chain 9-related disorders (MYH9RD) are a genetic condition characterised by large platelets and thrombocytopaenia. The May-Hegglin anomaly (MHA), an uncommon condition with a potential risk of bleeding complications once thought to be separate, is now known to be part of MYH9RD.<\/jats:p>\n               <jats:p>There are very limited data on the clinical course and neonatal\/paediatric\u2009outcome in children with MHA. We present the case of a newborn with a normal physical examination whose mother had MHA. Peripheral blood examination revealed a platelet count of 16\u00d710<jats:sup>9<\/jats:sup>\/L with giant platelets and neutrophils containing D\u00f6hle bodies. Neonatal brain ultrasound examination showed no haemorrhage. The infant received three platelet transfusions during the first 29 days of life, remaining asymptomatic. The genetic molecular test was positive for MYH9RD. It is important to identify at-risk infants with this condition and to initiate therapy to prevent related complications, if needed, in a multidisciplinary team approach.<\/jats:p>","DOI":"10.1136\/bcr-2018-224510","type":"journal-article","created":{"date-parts":[[2018,7,30]],"date-time":"2018-07-30T09:19:26Z","timestamp":1532942366000},"page":"bcr-2018-224510","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["MYH9-related disorders: a rare cause of neonatal thrombocytopaenia"],"prefix":"10.1136","volume":"2018","author":[{"given":"Maria In\u00eas","family":"Marques","sequence":"first","affiliation":[{"name":"Paediatric Department, Centro Hospitalar de Lisboa Ocidental EPE, Lisboa, Portugal"},{"name":"Paediatric Department, Centro Hospitalar Tondela-Viseu, Viseu, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00edsa","family":"Carrington Queir\u00f3","sequence":"additional","affiliation":[{"name":"Paediatric Department, Centro Hospitalar de Lisboa Ocidental EPE, Lisboa, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Rita","family":"Prior","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Centro Hospitalar de Lisboa Ocidental EPE, Lisboa, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madalena","family":"Lopo Tuna","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Centro Hospitalar de Lisboa Ocidental EPE, Lisboa, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,7,30]]},"reference":[{"key":"2025082805301046000_2018.jul27_1.bcr-2018-224510.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2008.03.004"},{"key":"2025082805301046000_2018.jul27_1.bcr-2018-224510.2","unstructured":"Fernandes CJ . Causes of neonatal thrombocytopenia. 2016 www.uptodate.com (accessed 31 Jan 2017)."},{"key":"2025082805301046000_2018.jul27_1.bcr-2018-224510.3","doi-asserted-by":"crossref","first-page":"111","DOI":"10.5858\/2005-129-e111-PQCTNW","article-title":"Pathologic quiz case: twin neonates with thrombocytopenia. May-Hegglin anomaly","volume":"129","author":"Scurlock","year":"2005","journal-title":"Arch Pathol Lab Med"},{"key":"2025082805301046000_2018.jul27_1.bcr-2018-224510.4","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1992.02160210099032"},{"key":"2025082805301046000_2018.jul27_1.bcr-2018-224510.5","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1742"},{"key":"2025082805301046000_2018.jul27_1.bcr-2018-224510.6","unstructured":"Savoia A , Pecci A . MYH9-Related Disorders. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews\u00ae [Internet]: Seattle (WA) University of Washington, Seattle:1993\u20132018."},{"key":"2025082805301046000_2018.jul27_1.bcr-2018-224510.7","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1016\/j.mayocp.2017.05.003","article-title":"MYH9-Related Thrombocytopenia","volume":"92","author":"Ban","year":"2017","journal-title":"Mayo Clin Proc"},{"key":"2025082805301046000_2018.jul27_1.bcr-2018-224510.8","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1097\/MBC.0b013e32835fad03","article-title":"May-Hegglin anomaly and pregnancy: a systematic review","volume":"24","author":"Hussein","year":"2013","journal-title":"Blood Coagul Fibrinolysis"},{"key":"2025082805301046000_2018.jul27_1.bcr-2018-224510.9","doi-asserted-by":"crossref","unstructured":"Alarc\u00f3n PA , Werner EJ , Christensen RD . Platelet disorders. Neonatal hematology: pathogenesis, diagnosis, and management of hematologic problems. 2nd ed. New York: Cambridge University Press, 2013.","DOI":"10.1017\/CBO9780511978135"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-224510","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:30:17Z","timestamp":1756384217000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-224510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,30]]},"references-count":9,"alternative-id":["10.1136\/bcr-2018-224510"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-224510","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,30]]}}}