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Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia. Clinical exome sequencing did not reveal any pathogenic mutation in the genes involved in primary lymphatic dysplasia, noonan syndrome or rasopathies.<\/jats:p>","DOI":"10.1136\/bcr-2019-229260","type":"journal-article","created":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T08:28:09Z","timestamp":1567153689000},"page":"e229260","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis"],"prefix":"10.1136","volume":"12","author":[{"given":"Thangaraj","family":"Abiramalatha","sequence":"first","affiliation":[{"name":"Neonatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanka","family":"Johnson","sequence":"additional","affiliation":[{"name":"Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Umamaheswari","family":"Balakrishnan","sequence":"additional","affiliation":[{"name":"Neonatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prakash","family":"Amboiram","sequence":"additional","affiliation":[{"name":"Neonatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,8,30]]},"reference":[{"doi-asserted-by":"publisher","key":"2025082711221355000_12.8.e229260.1","DOI":"10.3109\/00016349609033353"},{"key":"2025082711221355000_12.8.e229260.2","first-page":"206","article-title":"Primary lymphedema in children and adolescents: a follow-up study and review","volume":"76","author":"Smeltzer","year":"1985","journal-title":"Pediatrics"},{"key":"2025082711221355000_12.8.e229260.3","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1159\/000440939","article-title":"Lymphatic Malformation in Newborns as the First Sign of Diffuse Lymphangiomatosis: Successful Treatment with Sirolimus","volume":"109","author":"Laforgia","year":"2016","journal-title":"Neonatology"},{"doi-asserted-by":"publisher","key":"2025082711221355000_12.8.e229260.4","DOI":"10.1111\/cge.12173"},{"key":"2025082711221355000_12.8.e229260.5","doi-asserted-by":"crossref","first-page":"n\/a","DOI":"10.1002\/lary.21927","article-title":"The successful management of diffuse lymphangiomatosis using sirolimus: a case report","volume":"121","author":"Reinglas","year":"2011","journal-title":"Laryngoscope"},{"doi-asserted-by":"publisher","key":"2025082711221355000_12.8.e229260.6","DOI":"10.1016\/j.oraloncology.2011.08.001"},{"doi-asserted-by":"publisher","key":"2025082711221355000_12.8.e229260.7","DOI":"10.1002\/hed.21552"},{"doi-asserted-by":"publisher","key":"2025082711221355000_12.8.e229260.8","DOI":"10.1002\/pbc.24866"},{"key":"2025082711221355000_12.8.e229260.9","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000008871","article-title":"The use of sirolimus in the treatment of giant cystic lymphangioma: Four case reports and update of medical therapy","volume":"96","author":"Amodeo","year":"2017","journal-title":"Medicine"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-229260","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:22:20Z","timestamp":1756318940000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-229260"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8]]},"references-count":9,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2019,8,30]]},"published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1136\/bcr-2019-229260"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-229260","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2019,8]]}}}