{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,25]],"date-time":"2024-08-25T23:40:38Z","timestamp":1724629238703},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T00:00:00Z","timestamp":1704412800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:p>Primary lymphedema most commonly affects the lower extremities, is progressive, and is not curable. The condition is associated with mutations in approximately 30 genes. Patients usually present with edema during infancy or adolescence. Four of 364 (1%) patients with primary lymphedema in our database were diagnosed by prenatal imaging. Three children did not exhibit lymphedema after birth, 2 had a <jats:italic toggle=\"yes\">VEGFC<\/jats:italic> mutation, and 2 exhibited normal lymphatic function by lymphoscintigraphy. Lymphedema identified prenatally is associated with a <jats:italic toggle=\"yes\">VEGFC<\/jats:italic> mutation and can resolve postnatally.<\/jats:p>","DOI":"10.1097\/jova.0000000000000073","type":"journal-article","created":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T21:01:19Z","timestamp":1704488479000},"page":"e073","update-policy":"http:\/\/dx.doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Lymphedema: A Genotype-Phenotype Analysis"],"prefix":"10.1097","volume":"5","author":[{"given":"Michal","family":"Ad","sequence":"first","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema Program, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arin K.","family":"Greene","sequence":"additional","affiliation":[{"name":"Department of Plastic and Oral Surgery, Lymphedema Program, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2024,3]]},"reference":[{"key":"R1-20240825","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":"R2-20240825","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1089\/wound.2020.1338","article-title":"Primary lymphedema: update on genetic basis and management.","volume":"11","author":"Sudduth","year":"2022","journal-title":"Adv Wound Care (New Rochelle)"},{"key":"R3-20240825","doi-asserted-by":"crossref","first-page":"2419","DOI":"10.1097\/PRS.0b013e318213a218","article-title":"Primary lymphedema: clinical features and management in 138 pediatric patients.","volume":"127","author":"Schook","year":"2011","journal-title":"Plast Reconstr Surg"},{"key":"R4-20240825","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.jpeds.2009.02.023","article-title":"Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.","volume":"155","author":"Ghalamkarpour","year":"2009","journal-title":"J Pediatr"},{"key":"R5-20240825","doi-asserted-by":"crossref","first-page":"2152","DOI":"10.1002\/ajmg.a.61743","article-title":"A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.","volume":"182","author":"Aukema","year":"2020","journal-title":"Am J Med Genet A"},{"key":"R6-20240825","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1002\/pd.418","article-title":"Prenatal diagnosis of Milroy\u2019s primary congenital lymphedema.","volume":"22","author":"Makhoul","year":"2002","journal-title":"Prenat Diagn"},{"key":"R7-20240825","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1111\/cge.13204","article-title":"Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.","volume":"94","author":"Fastr\u00e9","year":"2018","journal-title":"Clin Genet"}],"container-title":["Journal of Vascular Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/JOVA.0000000000000073","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,25]],"date-time":"2024-08-25T23:01:11Z","timestamp":1724626871000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/JOVA.0000000000000073"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,5]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.1097\/jova.0000000000000073","relation":{},"ISSN":["2690-2702"],"issn-type":[{"type":"electronic","value":"2690-2702"}],"subject":[],"published":{"date-parts":[[2024,1,5]]}}}