{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:25:01Z","timestamp":1762431901387,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T00:00:00Z","timestamp":1592870400000},"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":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Beckwith\u2013Wiedemann syndrome (BWS) is an overgrowth syndrome, caused by alterations in a cluster of imprinted genes located within the chromosome region 11p15.5. Common clinical features are overgrowth, macroglossia, lateralized overgrowth, abdominal wall defects, neonatal hypoglycemia and an increased risk of embryonal tumors, such as hepatoblastomas. Periodic screening for abdominal tumors is recommended. Vascular tumors are uncommon in BWS. Diffuse infantile hepatic hemangiomas (DIHHs) are rare vascular tumors with potentially lethal complications, in particular acquired consumptive hypothyroidism, high\u2010output cardiac failure, liver failure and abdominal compartment syndrome. We describe a 2\u2010month\u2010old patient with hallmark clinical features of BWS and confirmed a genetic diagnosis with mosaic paternal uniparental disomy of chromosome 11p15.5 (UPD[11]pat). The patient developed hepatomegaly and elevated alpha\u2010fetoprotein (AFP) and was therefore suspected of having a hepatoblastoma. Abdominal echo\u2010color Doppler and a CT\u2010scan allowed diagnosis of DIHHs. She was closely monitored and underwent treatment with propranolol. Oral propranolol was effective in reducing hepatic lesions without side effects. This report may suggest that vascular tumors can also be associated with BWS.<\/jats:p>","DOI":"10.1002\/ajmg.a.61718","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T07:57:15Z","timestamp":1592899035000},"page":"1972-1976","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Diffuse infantile hepatic hemangiomas in a patient with <scp>Beckwith\u2013Wiedemann<\/scp> syndrome: A new association?"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7409-8299","authenticated-orcid":false,"given":"Marina","family":"Macchiaiolo","sequence":"first","affiliation":[{"name":"Rare Diseases and Clinical Genetics Unit, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna H.","family":"Markowich","sequence":"additional","affiliation":[{"name":"Rare Diseases and Clinical Genetics Unit, 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