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This newborn was successfully treated with repetitive thoracocentesis, total parenteral feeding, octreotide intravenously and finally surgical pleurodesis and corticosteroids. A genetic cause seemed plausible as the maternal history revealed a fatal nonimmune hydrops fetalis. A homozygous truncating variant in <jats:italic>GDF2<\/jats:italic> (c.451C&gt;T, p.(Arg151*)) was detected with exome sequencing. Genetic analysis of tissue obtained from the deceased fetal sibling revealed the same homozygous variant. The parents and two healthy siblings were heterozygous for the <jats:italic>GDF2<\/jats:italic> variant. Skin and lung biopsies in the index patient, as well as the revised lung biopsy of the deceased fetal sibling, showed lymphatic dysplasia and lymphangiectasia. To the best of our knowledge, this is the first report of an association between a homozygous variant in <jats:italic>GDF2<\/jats:italic> with lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis.<\/jats:p>","DOI":"10.1002\/ajmg.a.61743","type":"journal-article","created":{"date-parts":[[2020,7,3]],"date-time":"2020-07-03T06:48:23Z","timestamp":1593758903000},"page":"2152-2160","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A homozygous variant in growth and differentiation factor 2 <i>(<\/i><scp><i>GDF2<\/i><\/scp><i>)<\/i> may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5824-0320","authenticated-orcid":false,"given":"Sietse M.","family":"Aukema","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, University of Groningen University Medical Center Groningen  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