{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T06:12:20Z","timestamp":1776147140395,"version":"3.50.1"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:00:00Z","timestamp":1776124800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Marfan syndrome (MFS) is a multisystem connective tissue disorder affecting the cardiovascular, ocular, and skeletal systems. We report a case of a 13.5-year-old boy who presented with excessive linear growth. Diagnostic evaluations revealed severe aortic root dilatation, repeatedly positive occult blood in urine, and ultrasonographic findings suggestive of left renal vein entrapment. Genetic testing identified a pathogenic variant in the FBN1 gene. The patient was ultimately diagnosed with Marfan syndrome complicated by left renal vein entrapment syndrome (nutcracker phenomenon). The co-occurrence of severe aortic root dilatation and left renal vein entrapment syndrome in childhood Marfan syndrome is relatively uncommon. This case may provide valuable insights for clinical diagnosis and management.<\/jats:p>","DOI":"10.3389\/fped.2026.1790656","type":"journal-article","created":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T05:36:41Z","timestamp":1776145001000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A rare coexistence with severe aortic root dilatation and nutcracker phenomenon in pediatric Marfan syndrome"],"prefix":"10.3389","volume":"14","author":[{"given":"Xiaoyu","family":"Qiao","sequence":"first","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University","place":["Nanning, Guangxi, China"]},{"name":"Difficult and Critical Illness Center, Pediatric Clinical Medical Research Center of Guangxi","place":["Nanning, Guangxi, China"]},{"name":"Guizhou Branch of Shanghai Children\u2019s Medical Center","place":["Guizhou, China"]},{"name":"Guizhou Provincial People\u2019s Hospital","place":["Guizhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University","place":["Nanning, Guangxi, China"]},{"name":"Difficult and Critical Illness Center, Pediatric Clinical Medical Research Center of Guangxi","place":["Nanning, Guangxi, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danyan","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University","place":["Nanning, Guangxi, China"]},{"name":"Difficult and Critical Illness Center, Pediatric Clinical Medical Research Center of Guangxi","place":["Nanning, Guangxi, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lifeng","family":"Shang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University","place":["Nanning, Guangxi, China"]},{"name":"Difficult and Critical Illness Center, Pediatric Clinical Medical Research Center of Guangxi","place":["Nanning, Guangxi, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusheng","family":"Pang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University","place":["Nanning, Guangxi, China"]},{"name":"Difficult and Critical Illness Center, Pediatric Clinical Medical Research Center of Guangxi","place":["Nanning, Guangxi, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"114","DOI":"10.3390\/Jcdd11040114","article-title":"Unique features of cardiovascular involvement and progression in children with Marfan syndrome justify dedicated multidisciplinary care","volume":"11","author":"Baban","year":"2024","journal-title":"J Cardiovasc Dev Dis"},{"key":"B2","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1186\/S13073-024-01423-3","article-title":"Interpretation and classification of Fbn1 variants associated with Marfan syndrome: consensus recommendations from the clinical genome resource\u2019s Fbn1 variant curation expert panel","volume":"16","author":"Drackley","year":"2024","journal-title":"Genome Med"},{"key":"B3","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1007\/S00246-024-03502-Z","article-title":"Extracardiac manifestations fail to predict the severity of cardiac phenotype in children and young adults with Marfan syndrome","volume":"46","author":"John","year":"2025","journal-title":"Pediatr Cardiol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1965","DOI":"10.1016\/S0140-6736(05)67789-6","article-title":"Marfan\u2019s syndrome","volume":"366","author":"Judge","year":"2005","journal-title":"Lancet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/S41572-021-00298-7","article-title":"Marfan syndrome","volume":"7","author":"Milewicz","year":"2021","journal-title":"Nat. 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