{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T13:04:22Z","timestamp":1764162262310,"version":"3.46.0"},"reference-count":14,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Z Geburtshilfe Neonatol"],"published-print":{"date-parts":[[2023,6]]},"abstract":"Zusammenfassung<\/jats:title>\n Das Beckwith-Wiedemann-Syndrom (BWS) ist eine genetische Erkrankung mit variablem\n Ph\u00e4notyp, die sich mit folgenden Leitsymptomen darstellen kann:\n Makroglossie, Asymmetrie der Extremit\u00e4ten, einseitiger Gigantismus,\n Vergr\u00f6\u00dferung der inneren Organe, Bauchwanddefekte, neonatale\n Hypoglyk\u00e4mie sowie einem erh\u00f6hten Risiko f\u00fcr embryonale\n Tumore. Die Pr\u00e4valenz des Syndroms wird mit circa 1 von 10.000 bis 1 von\n 21.000 Lebendgeburten angegeben. Es beruht auf molekularen Ver\u00e4nderungen\n der Gencluster auf dem kurzen Arm von Chromosom 11, Bande P15.5. Wir stellen ein\n fr\u00fchgeborenes M\u00e4dchen aus 32 0\/7 Schwangerschaftswochen\n (SSW) vor. Postnatal wurde eine UPD(11)pat-Mutation diagnostiziert und damit das\n BWS genetisch gesichert. Die Besonderheit ihres Falls beruht auf der\n fr\u00fchen Notwendigkeit der Zungenreduktionsplastik bei\n Trinkschwierigkeiten und Atemst\u00f6rung sowie lang bestehenden, schwer\n einstellbaren Hypoglyk\u00e4mien.<\/jats:p>","DOI":"10.1055\/a-2004-0683","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T18:46:10Z","timestamp":1674585970000},"page":"227-230","source":"Crossref","is-referenced-by-count":2,"title":["Fr\u00fchgeborenes mit Makroglossie und persistierender\n Hypoglyk\u00e4mie \u2013 Beckwith-Wiedemann-Syndrom"],"prefix":"10.1055","volume":"227","author":[{"given":"Victoria","family":"Ulrich","sequence":"additional","affiliation":[{"name":"Neonatologie, Christliches Kinderhospital Osnabr\u00fcck,\n Osnabr\u00fcck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pia","family":"Rullk\u00f6tter","sequence":"additional","affiliation":[{"name":"Kinderintensivstation, Christliches Kinderhospital Osnabr\u00fcck,\n Osnabr\u00fcck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandros","family":"Rahn","sequence":"additional","affiliation":[{"name":"Zentrum Kinderheilkunde und Jugendmedizin, Neonatologie, Medizinische\n Hochschule Hannover, Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,1,24]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/nrendo.2017.166","article-title":"Expert consensus document: Clinical and molecular diagnosis, screening and\n management of Beckwith-Wiedemann syndrome: an international consensus\n statement","volume":"14","author":"F Brioude","year":"2018","journal-title":"Nat Rev Endocrinol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1002\/ajmg.c.31740","article-title":"Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and\n management","volume":"181","author":"K A 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Surg"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/j.ijom.2011.10.021","article-title":"Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome:\n a 20-year experience and review of the literature","volume":"41","author":"DJ M Kadouch","year":"2012","journal-title":"Int J Oral Maxillofac Surg"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1159\/000355544","article-title":"Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to\n molecular mechanism, and guidelines for tumor surveillance","volume":"80","author":"F Brioude","year":"2013","journal-title":"Horm Res Paediatr"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1007\/BF00282078","article-title":"Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22\n new cases and review of the literature","volume":"74","author":"M J Pettenati","year":"1986","journal-title":"Hum Genet"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.jpeds.2016.05.038","article-title":"Cancer Risk in Beckwith-Wiedemann syndrome: A Systematic Review and\n Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted\n Screening Protocol","volume":"176","author":"A Mussa","year":"2016","journal-title":"J Pediatr"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1038\/s41416-020-0911-x","article-title":"Cancer incidence and spectrum among children with genetically confirmed\n Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study","volume":"123","author":"S C\u00f6kt\u00fc","year":"2020","journal-title":"Br J Cancer"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1016\/s0022-3476(98)70008-3","article-title":"Risk of cancer during the first four years of life in children from The\n Beckwith-Wiedemann syndrome Registry","volume":"132","author":"M R DeBaun","year":"1998","journal-title":"J Pediatr"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"2481","DOI":"10.1002\/ajmg.a.36080","article-title":"Prevalence of Beckwith-Wiedemann yndrome in North West of Italy","volume":"161A","author":"A Mussa","year":"2013","journal-title":"Am J Med Genet A"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"1649","DOI":"10.1038\/s41431-019-0446-x","article-title":"A retrospective analysis of the prevalence of imprinting disorders in Estonia\n from 1998 to 2016","volume":"27","author":"M Yakoreva","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"562","DOI":"10.3389\/fped.2019.00562","article-title":"Diagnosis and Management of Beckwith-Wiedemann syndrome","volume":"7","author":"K H Wang","year":"2019","journal-title":"Front Pediatr"}],"container-title":["Zeitschrift f\u00fcr Geburtshilfe und 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