{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T23:16:02Z","timestamp":1791414962078,"version":"4.3.3"},"reference-count":46,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with an increased risk of pediatric tumors. The underlying molecular abnormalities may be genetic (&lt;i&gt;CDKN1C&lt;\/i&gt; mutations or 11p15 paternal uniparental isodisomy, pUPD) or epigenetic (imprinting center region 1, ICR1, gain of methylation, ICR1 GOM, or ICR2 loss of methylation, ICR2 LOM). &lt;b&gt;&lt;i&gt;Aim:&lt;\/i&gt;&lt;\/b&gt; We aimed to describe a cohort of 407 BWS patients with molecular defects of the 11p15 domain followed prospectively after molecular diagnosis. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Birth weight and length were significantly higher in patients with ICR1 GOM than in the other groups. ICR2 LOM and &lt;i&gt;CDKN1C&lt;\/i&gt; mutations were associated with a higher prevalence of exomphalos. Mean adult height (regardless of molecular subtype, n = 35) was 1.8 \u00b1 1.2 SDS, with 18 patients having a final height above +2 SDS. The prevalence of tumors was 8.6% in the whole population; 28.6 and 17.3% of the patients with ICR1 GOM (all Wilms tumors) and 11p15 pUPD, respectively, developed a tumor during infancy. Conversely, the prevalence of tumors in patients with ICR2 LOM and &lt;i&gt;CDKN1C&lt;\/i&gt; mutations were 3.1 and 8.8%, respectively, with no Wilms tumors. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Based on these results for a large cohort, we formulated guidelines for the follow-up of these patients according to the molecular subtype of BWS.<\/jats:p>","DOI":"10.1159\/000355544","type":"journal-article","created":{"date-parts":[[2013,12,12]],"date-time":"2013-12-12T03:18:58Z","timestamp":1386818338000},"page":"457-465","source":"Crossref","is-referenced-by-count":152,"title":["Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor 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