{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,15]],"date-time":"2025-06-15T17:21:10Z","timestamp":1750008070657,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,8,26]],"date-time":"2023-08-26T00:00:00Z","timestamp":1693008000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 2\u2010month\u2010old female infant with macroglossia, macrosomia, omphalocele, neonatal hypoglycemia, earlobe creases, low nasal bridge, midface retrusion, syndromic facies and multiple cutaneous and hepatic hemangiomas (HH). Genetic evaluation confirmed the diagnosis of Beckwith\u2013Wiedemann Syndrome (BWS) with mosaic uniparental disomy 11 as the underlying genetic mechanism suggested by partial hypermethylation of H19\/IGF2:IG\u2010DMR and partial hypomethylation of KCNQ1OT1:TSS\u2010DMR on chromosome 11p15.5. Pediatric endocrinology and cardiology assessments were normal. No malignant liver or renal tumors were detected during the follow\u2010up period. Treatment with propranolol was started for the multiple HH, according to international recommendations. At 3\u2010, 6\u2010, and 9\u2010month follow up, a gradual decrease in the size of the hemangiomas and AFP levels was observed, without side effects. This is the fifth case in the literature combining HH and BWS, and among these, the third case with this specific genetic defect suggesting a possible association between HH and BWS caused by 11 paternal uniparental disomy [upd(11)pat]. The case also highlights that if treatment is warranted, then oral propranolol can be used for the management of infantile HH in BWS patients similarly to non\u2010BWS patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.63381","type":"journal-article","created":{"date-parts":[[2023,8,26]],"date-time":"2023-08-26T15:28:29Z","timestamp":1693063709000},"page":"88-93","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Beckwith\u2013Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8795-0911","authenticated-orcid":false,"given":"Maria","family":"Moutafi","sequence":"first","affiliation":[{"name":"Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine Aristotle University of Thessaloniki Thessaloniki Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8348-8520","authenticated-orcid":false,"given":"Nikolaos","family":"Gkiourtzis","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine Aristotle University of Thessaloniki Thessaloniki Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8393-4444","authenticated-orcid":false,"given":"Athina","family":"Ververi","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, Genetic Unit, First Department of Obstetrics and Gynaecology, Papageorgiou General Hospital, School of Medicine Aristotle University of Thessaloniki Thessaloniki Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Kavga","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine Aristotle University of Thessaloniki Thessaloniki Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthi","family":"Morichovitou","sequence":"additional","affiliation":[{"name":"Department of Radiology Papageorgiou General Hospital Thessaloniki Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0236-5981","authenticated-orcid":false,"given":"Kyriaki","family":"Papadopoulou\u2010Legbelou","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, Fourth Department of Pediatrics, Papageorgiou General Hospital, School of Medicine Aristotle University of Thessaloniki Thessaloniki Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1389-3912","authenticated-orcid":false,"given":"Maria","family":"Fotoulaki","sequence":"additional","affiliation":[{"name":"Faculty of Health 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