{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:05:55Z","timestamp":1790193955820,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,24]],"date-time":"2019-07-24T00:00:00Z","timestamp":1563926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Beckwith\u2010Wiedemann syndrome (BWS) phenotype usually mitigates with age and data on adulthood are limited. Our study aims at reporting phenotype evolution and health issues in adulthood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>34 patients (16 males), aged 18\u201358\u2009years (mean 28.5) with BWS were enrolled.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>26 patients were molecularly confirmed, 5 tested negative, and 3 were not tested. Final tall stature was present in 44%. Four patients developed Wilms' Tumor (2, 3, 5, and 10 years, respectively); one hepatoblastoma (22\u2009years); one acute lymphoblastic leukemia (21\u2009years); one adrenal adenoma and testicular Sertoli cell tumor (22 and 24\u2009years, respectively); and three benign tumors (hepatic haemangioma, uterine myoma, and mammary fibroepithelioma). Surgery for BWS\u2010related features was required in 85%. Despite surgical correction several patients presented morbidity and sequelae of BWS pediatric issues: pronunciation\/swallow difficulties (<jats:italic>n<\/jats:italic> = 9) due to macroglossia, painful scoliosis (<jats:italic>n<\/jats:italic> = 4) consistent with lateralized overgrowth, recurrent urolithiasis (<jats:italic>n<\/jats:italic> = 4), azoospermia (<jats:italic>n<\/jats:italic> = 4) likely consequent to cryptorchidism, severe intellectual disability (<jats:italic>n<\/jats:italic> = 2) likely related to neonatal asphyxia and diabetes mellitus (<jats:italic>n<\/jats:italic> = 1) due to subtotal pancreatectomy for intractable hyperinsulinism. Four patients (two males) had healthy children (three physiologically conceived and one through assisted reproductive technology).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Adult health conditions in BWS are mostly consequent to pediatric issues, underlying the preventive role of follow\u2010up strategies in childhood. Malignancy rate observed in early adulthood in this small cohort matches that observed in the first decade of life, cumulatively raising tumor rate in BWS to 20% during the observation period. Further studies are warranted in this direction.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.61301","type":"journal-article","created":{"date-parts":[[2019,7,24]],"date-time":"2019-07-24T14:54:17Z","timestamp":1563980057000},"page":"1691-1702","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Phenotype evolution and health issues of adults with Beckwith\u2010Wiedemann syndrome"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5230-2831","authenticated-orcid":false,"given":"Andrea","family":"Gazzin","sequence":"first","affiliation":[{"name":"Department of Public Health and Pediatrics University of Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5690-6504","authenticated-orcid":false,"given":"Diana","family":"Carli","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatrics 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