{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:21:13Z","timestamp":1761718873864},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and predisposition to embryonal tumours. BWS results mainly from epigenetic changes at chromosome 11p15.5; however, heterozygous pathogenic variants on the maternal<jats:italic toggle=\"yes\">CDKN1C<\/jats:italic>allele are observed in 5\u20138% of sporadic BWS cases. In this study, we report three sporadic BWS patients with novel pathogenic variants in the<jats:italic toggle=\"yes\">CDKN1C<\/jats:italic>gene, including one missense (c.181T&gt;C) and two frameshift (c.415_416dup, c.804delC). Detailed clinical evaluation of the patients showed variable manifestation of the disease and underlined the diagnostic challenge for BWS patients at various age of life. The child with the c.415_416dup variant presented with two rare features observed so far in only a few BWS patients with<jats:italic toggle=\"yes\">CDKN1C<\/jats:italic>pathogenic variants: supernumerary flexion creases and agenesis of corpus callosum. Confirmation of these findings in another BWS patient adds to the broad clinical spectrum of the disease and suggests that presence of these features may be associated with<jats:italic toggle=\"yes\">CDKN1C<\/jats:italic>pathogenic variants.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000307","type":"journal-article","created":{"date-parts":[[2019,12,5]],"date-time":"2019-12-05T13:29:00Z","timestamp":1575552540000},"page":"28-34","source":"Crossref","is-referenced-by-count":8,"title":["Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene"],"prefix":"10.1097","volume":"29","author":[{"given":"Dorota","family":"Jurkiewicz","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, The Children\u2019s Memorial Health Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Sk\u00f3rka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, The Children\u2019s Memorial Health Institute"},{"name":"Department of Paediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, The Children\u2019s Memorial Health Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Kugaudo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, The Children\u2019s Memorial Health Institute"},{"name":"Department of Child and Adolescent Psychiatry, Medical University of Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Pelc","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, The Children\u2019s Memorial Health Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krystyna","family":"Chrzanowska","sequence":"additional","affiliation":[{"name":"Department of Medical 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