"Beckwith-Wiedemanns syndrom"@sv . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u0411\u0435\u043A\u0432\u0438\u0442\u0430 \u2014 \u0412\u0438\u0434\u0435\u043C\u0430\u043D\u0430 (\u0430\u043D\u0433\u043B. BWS \u2014 Beckwith-Wiedemann-Syndrom, EMG \u2014 Exomphalos-Makroglossie-Gigantismus, \u0442\u0430\u043A\u0436\u0435 \u0441\u0438\u043D\u0434\u0440\u043E\u043C \u00AB\u0433\u0438\u0433\u0430\u043D\u0442\u0438\u0437\u043C\u0430 \u0441 \u043F\u0443\u043F\u043E\u0432\u0438\u043D\u043D\u043E\u0439 \u0433\u0440\u044B\u0436\u0435\u0439\u00BB) \u2014 \u043E\u0434\u043D\u0430 \u0438\u0437 \u0440\u0435\u0434\u043A\u0438\u0445 \u0433\u0435\u043D\u0435\u0442\u0438\u0447\u0435\u0441\u043A\u0438\u0445 \u0430\u043D\u043E\u043C\u0430\u043B\u0438\u0439, \u0441\u0432\u044F\u0437\u0430\u043D\u0430 \u0441 \u043F\u0440\u0435\u0432\u044B\u0448\u0435\u043D\u0438\u0435\u043C \u043D\u043E\u0440\u043C \u0440\u043E\u0441\u0442\u0430 \u043F\u043B\u043E\u0434\u0430 \u043F\u0440\u0438 \u0431\u0435\u0440\u0435\u043C\u0435\u043D\u043D\u043E\u0441\u0442\u0438 \u0438 \u0441 \u043D\u0435\u0441\u043E\u0433\u043B\u0430\u0441\u043E\u0432\u0430\u043D\u043D\u044B\u043C \u0440\u0430\u0437\u0432\u0438\u0442\u0438\u0435\u043C \u0440\u0430\u0437\u043B\u0438\u0447\u043D\u044B\u0445 \u043E\u0442\u0434\u0435\u043B\u043E\u0432 \u043E\u0440\u0433\u0430\u043D\u0438\u0437\u043C\u0430. \u0422\u0438\u043F\u0438\u0447\u043D\u044B\u043C\u0438 \u043F\u0440\u0438\u0437\u043D\u0430\u043A\u0430\u043C\u0438 \u0441\u0438\u043D\u0434\u0440\u043E\u043C\u0430 \u044F\u0432\u043B\u044F\u044E\u0442\u0441\u044F \u0443\u0432\u0435\u043B\u0438\u0447\u0435\u043D\u043D\u044B\u0435 \u0440\u0430\u0437\u043C\u0435\u0440 \u0438 \u0432\u0435\u0441 \u043F\u043B\u043E\u0434\u0430 (\u043D\u043E\u0432\u043E\u0440\u043E\u0436\u0434\u0451\u043D\u043D\u043E\u0433\u043E \u0440\u0435\u0431\u0451\u043D\u043A\u0430), \u043F\u0440\u0438\u0447\u0435\u043C \u043F\u0440\u043E\u0438\u0441\u0445\u043E\u0434\u044F\u0442 \u043D\u0435 \u0442\u043E\u043B\u044C\u043A\u043E \u0430\u0441\u0438\u043C\u043C\u0435\u0442\u0440\u0438\u0447\u043D\u044B\u0439 \u0440\u043E\u0441\u0442 \u043E\u0440\u0433\u0430\u043D\u0438\u0437\u043C\u0430 \u0438 \u0432\u043D\u0435\u0448\u043D\u0438\u0435 \u043E\u0442\u043A\u043B\u043E\u043D\u0435\u043D\u0438\u044F \u0432 \u0440\u0430\u0437\u043C\u0435\u0440\u0430\u0445 \u0442\u0435\u043B\u0430, \u043D\u043E \u0438 \u043D\u0435\u043F\u0440\u043E\u043F\u043E\u0440\u0446\u0438\u043E\u043D\u0430\u043B\u044C\u043D\u043E \u0431\u043E\u043B\u044C\u0448\u043E\u0439 \u0440\u0430\u0437\u043C\u0435\u0440 \u043D\u0435\u043A\u043E\u0442\u043E\u0440\u044B\u0445 \u0432\u043D\u0443\u0442\u0440\u0435\u043D\u043D\u0438\u0445 \u043E\u0440\u0433\u0430\u043D\u043E\u0432: \u043F\u0435\u0447\u0435\u043D\u0438, \u0441\u0435\u043B\u0435\u0437\u0451\u043D\u043A\u0438, \u043F\u043E\u0447\u0435\u043A \u0438 \u044F\u0437\u044B\u043A\u0430."@ru . . . . "NBK1394"@en . . . . . . . "\u8C9D\u514B\u5A01\u601D\uFF0D\u5A01\u5FB7\u66FC\u75C7\u5019\u7FA4\uFF08\u82F1\u8A9E\uFF1ABeckwith\u2013Wiedemann syndrome\uFF09\u662F\u4E00\u7A2E\u5148\u5929\u904E\u5EA6\u751F\u9577\u7684\u75BE\u75C5\uFF0C\u901A\u5E38\u60A3\u8005\u5728\u51FA\u751F\u524D\u5373\u5DF2\u6709\u53EF\u80FD\u767C\u751F\u904E\u5EA6\u751F\u9577\u7684\u60C5\u5F62\uFF0C\u51FA\u751F\u5F8C\u53EF\u80FD\u767C\u751F\u65B0\u751F\u5152\u4F4E\u8840\u7CD6\uFF0C\u4E26\u4F34\u96A8\u6709\u3001\u5167\u81DF\u816B\u5927\u3001\u534A\u908A\u80A5\u5927\u7B49\u75C5\u75C7\uFF0C\u8033\u6735\u4E0A\u6703\u51FA\u73FE\u7279\u6B8A\u7684\u647A\u75D5\u53CA\u5C0F\u51F9\u9677\u3002 \u5176\u767C\u751F\u7387\u70BA1/13700\uFF0C\u7D93\u51FA\u751F\u7684\u5B30\u5152\u6BD4\u4F8B\u8F03\u9AD8\u3002 \u907A\u50B3\u65B9\u9762\uFF0C\u5176\u907A\u50B3\u65B9\u5F0F\u70BA\u672A\u77E5\uFF0C\u56E0\u8FD185%\u7684\u75C5\u60A3\u90FD\u662F\u7121\u5BB6\u65CF\u53F2\u7684\u5076\u767C\u6848\u4F8B\u3002"@zh . "La sindrome di Beckwith-Wiedemann (BWS) \u00E8 una malattia genetica rara (circa 1:13.500) alla cui base risiedono diversi tipi di alterazioni genetiche. Causa pi\u00F9 frequente della sindrome \u00E8 l'alterazione dell'imprinting di alcuni geni che risiedono sul braccio corto del cromosoma 11 (11p15.5), sebbene siano possibili altre cause come la o delezioni/inversioni del cromosoma 11 di origine paterna. Il quadro clinico della BWS \u00E8 caratterizzato da diversi segni quali macroglossia, macrosomia fetale, ernia ombelicale, indentature del padiglione auricolare, ipoglicemia neonatale, emipertrofia ed aumentato rischio di sviluppare neoplasie: circa il 7% degli affetti sviluppa tumori, con una particolare frequenza del tumore di Wilms. La diagnosi \u00E8 principalmente clinica ma nell'80% circa dei casi \u00E8 da quella molecolare. Si pu\u00F2 anche riuscire a riconoscere la malattia in utero, tramite l'analisi dei villi-coriali: se si riscontrano nella madre valori aumentati di AlfaFetoProteina (AFP) e/o BetaHCG e all'ECO prenatale, si riscontrano morfologicamente alcune delle caratteristiche della sindrome (in particolare macrosomia, visceromegalia, anomalie della placenta e polidramnios). Per il sospetto, la diagnosi sia clinica che molecolare e la gestione di questa sindrome, bisogna riferirsi al recente Consensus Internazionale, pubblicato a gennaio 2018 su Nature Review Endocrinology, in cui il Box 2 elenca le caratteristiche cardinali e suggestive dello spettro Beckwith-Wiedemann (BWSp) e che consente di dare un punteggio alle stesse in modo che venga confermata o meno la diagnosi clinica e la necessit\u00E0 di un riscontro molecolare. I criteri cardinali (2 punti per caratteristica) includono: - macroglossia,- esonfalo,- iperaccrescimento lateralizzato,- Tumore di Wilms multifocale e/o bilaterale, o nefroblastomatosila- Iperinsulinismo (di durata maggiore di 1 settimana e che richiede un trattamento specifico)- Reperti antomopatologici: citomegalia della corteccia surrenale, displasia mesenchimale della placenta o adenomatosi pancreatica Le caratteristiche suggestive (1 punto per caratteristica) sono:- Peso alla nascita \u203A2 SDS dalla media- N\u00E6vus simplex facciale- Polidramnios e/o placentomegalia- Indentature e/o fossette auricolari- Ipoglicemia transitoria (durata inferiore ad 1 settimana)- Tumori tipici del BWSp (neuroblastoma, rabdomiosarcoma, tumore di Wilms unilaterale, epatoblastoma, carcinoma della corteccia surrenalica o feocromocitoma)- Nefromegalia e/o epatomegalia- Ernia ombelicale e/o diastasi dei muscoli retti addominali. La diagnosi differenziale deve essere posta nei confronti di: sindrome di Simpson-Golabi-Behmel, sindrome di Perlman, sindrome di Sotos. La prognosi \u00E8 sostanzialmente buona e dipende dal tipo e dalla severit\u00E0 delle malformazioni del soggetto."@it . . "El s\u00EDndrome Beckwith-Wiedemann (SBW) es una enfermedad gen\u00E9tica o epigen\u00E9tica asociada con un elevado riesgo de formaci\u00F3n de tumor embri\u00F3nico.\u200B La enfermedad es causada en genes reguladores del crecimiento en el cromosoma 11(en la regi\u00F3n 11p15.5) o por errores en impronta gen\u00F3mica.\u200B Los pacientes presentan de forma t\u00EDpica v\u00EDsceras fuera de la zona abdominal (onfalocele), lengua grande (macroglosia), y peso elevado al nacer (macrosom\u00EDa).\u200B La primera descripci\u00F3n fue realizada por \u200B y \u200B en 1969."@es . . "Het Syndroom van Beckwith-Wiedemann (BWS) of exomfalos-macroglossie-gigantisme (EMG) is een genetische aandoening die zich uit in een grote hoeveelheid verschillende aangeboren afwijkingen die in een groot aantal combinaties voorkomen. Pati\u00EBnten hebben een verhoogde kans op wilmstumoren. Het syndroom ontstaat door een mutatie in chromosoom 11. De meeste afwijkingen van het syndroom van Beckwith-Wiedemann zijn van tijdelijke aard, waardoor de diagnose vaak wordt gemist. Een diagnose aan de hand van uiterlijke kenmerken, wordt bevestigd aan de hand van cytogenetisch onderzoek. Prenatale diagnostiek is mogelijk met een echografie. Het syndroom van Beckwith-Wiedemann treft ongeveer 1 op 15.000 kinderen (tien tot vijftien per jaar in Nederland). Het komt even vaak voor bij jongens als bij meisjes. Dat meerdere kinderen in \u00E9\u00E9n gezin door het syndroom getroffen worden is ongewoon, maar komt voor."@nl . . . . . . "La sindrome di Beckwith-Wiedemann (BWS) \u00E8 una malattia genetica rara (circa 1:13.500) alla cui base risiedono diversi tipi di alterazioni genetiche. Causa pi\u00F9 frequente della sindrome \u00E8 l'alterazione dell'imprinting di alcuni geni che risiedono sul braccio corto del cromosoma 11 (11p15.5), sebbene siano possibili altre cause come la o delezioni/inversioni del cromosoma 11 di origine paterna. La diagnosi differenziale deve essere posta nei confronti di: sindrome di Simpson-Golabi-Behmel, sindrome di Perlman, sindrome di Sotos."@it . "S\u00EDndrome de Beckwith-Wiedemann"@es . . . . "Das Beckwith-Wiedemann-Syndrom, auch unter den Synonymen Wiedemann-Beckwith-Syndrom, Wiedemann-Syndrom und Exomphalos-Makroglossie-Gigantismus-Syndrom (EMG-Syndrom) bekannt, ist ein genetisch bedingtes Gro\u00DFwuchssyndrom, das mit Fehlbildungen und Tumoren verbunden und auf eine Genmutation zur\u00FCckzuf\u00FChren ist."@de . . . . . . . . . "\u8C9D\u514B\u5A01\u601D\uFF0D\u5A01\u5FB7\u66FC\u75C7\u5019\u7FA4"@zh . "130650"^^ . "Le syndrome de Beckwith-Wiedemann est une maladie g\u00E9n\u00E9tique se caract\u00E9risant par une croissance excessive du f\u0153tus (gigantisme), une grosse langue (macroglossie), une h\u00E9mi-hyperplasie, une hypertrophie des organes (visc\u00E9rom\u00E9galie), une omphaloc\u00E8le ou une hernie ombilicale, une pr\u00E9disposition \u00E0 d\u00E9velopper une tumeur embryonnaire, des anomalies des oreilles et des hypoglyc\u00E9mies."@fr . "14141"^^ . . . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u0411\u0435\u043A\u0432\u0438\u0442\u0430 \u2014 \u0412\u0438\u0434\u0435\u043C\u0430\u043D\u0430 (\u0430\u043D\u0433\u043B. BWS \u2014 Beckwith-Wiedemann-Syndrom, EMG \u2014 Exomphalos-Makroglossie-Gigantismus, \u0442\u0430\u043A\u0436\u0435 \u0441\u0438\u043D\u0434\u0440\u043E\u043C \u00AB\u0433\u0438\u0433\u0430\u043D\u0442\u0438\u0437\u043C\u0430 \u0441 \u043F\u0443\u043F\u043E\u0432\u0438\u043D\u043D\u043E\u0439 \u0433\u0440\u044B\u0436\u0435\u0439\u00BB) \u2014 \u043E\u0434\u043D\u0430 \u0438\u0437 \u0440\u0435\u0434\u043A\u0438\u0445 \u0433\u0435\u043D\u0435\u0442\u0438\u0447\u0435\u0441\u043A\u0438\u0445 \u0430\u043D\u043E\u043C\u0430\u043B\u0438\u0439, \u0441\u0432\u044F\u0437\u0430\u043D\u0430 \u0441 \u043F\u0440\u0435\u0432\u044B\u0448\u0435\u043D\u0438\u0435\u043C \u043D\u043E\u0440\u043C \u0440\u043E\u0441\u0442\u0430 \u043F\u043B\u043E\u0434\u0430 \u043F\u0440\u0438 \u0431\u0435\u0440\u0435\u043C\u0435\u043D\u043D\u043E\u0441\u0442\u0438 \u0438 \u0441 \u043D\u0435\u0441\u043E\u0433\u043B\u0430\u0441\u043E\u0432\u0430\u043D\u043D\u044B\u043C \u0440\u0430\u0437\u0432\u0438\u0442\u0438\u0435\u043C \u0440\u0430\u0437\u043B\u0438\u0447\u043D\u044B\u0445 \u043E\u0442\u0434\u0435\u043B\u043E\u0432 \u043E\u0440\u0433\u0430\u043D\u0438\u0437\u043C\u0430."@ru . "A S\u00EDndrome de Beckwith-Wiedemann \u00E9 uma s\u00EDndrome que altera o padr\u00E3o de crescimento de determinados \u00F3rg\u00E3os do corpo humano."@pt . "A S\u00EDndrome de Beckwith-Wiedemann \u00E9 uma s\u00EDndrome que altera o padr\u00E3o de crescimento de determinados \u00F3rg\u00E3os do corpo humano."@pt . . "Sindrome di Beckwith-Wiedemann"@it . . . . . . . . . . . . . . "Beckwith\u2013Wiedemann syndrome (/\u02C8b\u025Bk\u02CCw\u026A\u03B8 \u02C8vi\u02D0d\u0259.m\u0259n/; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) cases of BWS are familial, meaning that a close relative may also have BWS, and parents of an affected child may be at increased risk of having other children with BWS. While children with BWS are at increased risk of childhood cancer, most children with BWS do not develop cancer and the vast majority of children who do develop cancer can be treated successfully."@en . . . . . . . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0628\u0643\u0648\u062B \u0648\u062F\u0645\u0627\u0646 \u0647\u064A \u0645\u062C\u0645\u0648\u0639\u0629 \u0623\u0639\u0631\u0627\u0636 \u062A\u0638\u0647\u0631 \u0639\u0646\u062F \u0627\u0644\u0648\u0644\u0627\u062F\u0629\u060C \u0648\u062A\u0642\u0639 \u0627\u0644\u0645\u0648\u0631\u062B\u0627\u062A \u0627\u0644\u0645\u0633\u0624\u0648\u0644\u0629 \u0639\u0646 \u0627\u0644\u0645\u0631\u0636 \u0639\u0644\u0649 \u0627\u0644\u0630\u0631\u0627\u0639 \u0627\u0644\u0642\u0635\u064A\u0631 \u0645\u0646 11p15 \u0648\u0627\u0644\u062A\u064A \u062A\u062A\u0645\u064A\u0632 \u0628\u0648\u062C\u0648\u062F \u062A\u0636\u062E\u0645 \u0648\u0632\u064A\u0627\u062F\u0629 \u0641\u064A \u062D\u062C\u0645 \u0627\u0644\u062C\u0633\u0645 \u0648\u0627\u0644\u0644\u0633\u0627\u0646 \u0648\u0627\u0644\u0623\u062D\u0634\u0627\u0621 \u0627\u0644\u062F\u0627\u062E\u0644\u064A\u0629\u060C \u0645\u0635\u062D\u0648\u0628\u0629 \u0628\u0647\u0628\u0648\u0637 \u0645\u0633\u062A\u0648\u0649 \u0627\u0644\u0633\u0643\u0631 \u0628\u0627\u0644\u062F\u0645\u060C \u0648\u0642\u062F \u0642\u0627\u0645 \u0627\u0644\u062F\u0643\u062A\u0648\u0631\u0627\u0644\u0623\u0644\u0645\u0627\u0646\u064A ( Hans-Rudolf Wiedemann) \u0628\u0646\u0634\u0631 \u0628\u062D\u062B \u0639\u0627\u0645 1964\u0645 \u0639\u0646 \u0645\u062C\u0645\u0648\u0639\u0629 \u0645\u0646 \u0627\u0644\u062D\u0627\u0644\u0627\u062A \u062A\u062A\u0645\u064A\u0632 \u0628\u0648\u062C\u0648\u062F \u0641\u062A\u0642 \u0641\u064A \u0627\u0644\u0633\u0631\u0629 \u0645\u0639 \u0628\u0631\u0648\u0632 \u0628\u0639\u0636 \u0627\u0644\u0623\u062D\u0634\u0627\u0621 \u0645\u0635\u062D\u0648\u0628\u0629 \u0628\u0643\u0628\u0631 \u062D\u062C\u0645 \u0627\u0644\u0644\u0633\u0627\u0646\u060C \u0648\u0642\u062F \u0635\u0627\u063A \u0627\u0644\u0627\u0633\u0645 \u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0627\u0644\u0641\u062A\u0642 \u0627\u0644\u0633\u0631\u0631\u064A-\u0636\u062E\u0627\u0645\u0629 \u0627\u0644\u0644\u0633\u0627\u0646-\u0627\u0644\u0639\u0645\u0644\u0642\u0629 (exomphalos-macroglossia-gigantism [EMG] syndrome)\u060C \u0648\u0641\u064A \u0639\u0627\u0645 1969\u0645 \u0642\u0627\u0645 \u0627\u0644\u062F\u0643\u062A\u0648\u0631\u0627\u0644\u0623\u0645\u0631\u064A\u0643\u064A (J. Bruce Beckwith )\u0628\u0646\u0634\u0631 \u0628\u062D\u062B \u0639\u0646 \u0645\u062C\u0645\u0648\u0639\u0629 \u062D\u0627\u0644\u0627\u062A \u0623\u062E\u0631\u0649\u060C \u0648\u0645\u0646 \u062B\u0645 \u0639\u0631\u0641\u062A \u062A\u0644\u0643 \u0627\u0644\u062D\u0627\u0644\u0627\u062A \u0628\u0623\u0633\u0645\u0647\u0645\u0627. \u062A\u062D\u062F\u062B \u062D\u0627\u0644\u0629 \u0648\u0627\u062D\u062F\u0629 \u0644\u0643\u0644 15.000 \u0645\u0648\u0644\u0648\u062F."@ar . . . . . . "\u8C9D\u514B\u5A01\u601D\uFF0D\u5A01\u5FB7\u66FC\u75C7\u5019\u7FA4\uFF08\u82F1\u8A9E\uFF1ABeckwith\u2013Wiedemann syndrome\uFF09\u662F\u4E00\u7A2E\u5148\u5929\u904E\u5EA6\u751F\u9577\u7684\u75BE\u75C5\uFF0C\u901A\u5E38\u60A3\u8005\u5728\u51FA\u751F\u524D\u5373\u5DF2\u6709\u53EF\u80FD\u767C\u751F\u904E\u5EA6\u751F\u9577\u7684\u60C5\u5F62\uFF0C\u51FA\u751F\u5F8C\u53EF\u80FD\u767C\u751F\u65B0\u751F\u5152\u4F4E\u8840\u7CD6\uFF0C\u4E26\u4F34\u96A8\u6709\u3001\u5167\u81DF\u816B\u5927\u3001\u534A\u908A\u80A5\u5927\u7B49\u75C5\u75C7\uFF0C\u8033\u6735\u4E0A\u6703\u51FA\u73FE\u7279\u6B8A\u7684\u647A\u75D5\u53CA\u5C0F\u51F9\u9677\u3002 \u5176\u767C\u751F\u7387\u70BA1/13700\uFF0C\u7D93\u51FA\u751F\u7684\u5B30\u5152\u6BD4\u4F8B\u8F03\u9AD8\u3002 \u907A\u50B3\u65B9\u9762\uFF0C\u5176\u907A\u50B3\u65B9\u5F0F\u70BA\u672A\u77E5\uFF0C\u56E0\u8FD185%\u7684\u75C5\u60A3\u90FD\u662F\u7121\u5BB6\u65CF\u53F2\u7684\u5076\u767C\u6848\u4F8B\u3002"@zh . "NBK1394" . . . . "Beckwith\u2013Wiedemann syndrome"@en . . . . . "Examples of findings in Beckwith\u2013Wiedemann syndrome"@en . "1186"^^ . . "Syndroom van Beckwith-Wiedemann"@nl . "Zesp\u00F3\u0142 Beckwitha-Wiedemanna (ang. Beckwith-Wiedemann syndrome, BWS) \u2013 rzadki, genetycznie uwarunkowany zesp\u00F3\u0142 wad wrodzonych, charakteryzuj\u0105cy si\u0119 przerostem j\u0119zyka, przepuklin\u0105 p\u0119powinow\u0105, nadmiernym wzrostem, hipoglikemi\u0105 w okresie noworodkowym. BWS nale\u017Cy do zespo\u0142\u00F3w zwi\u0119kszonej predyspozycji do nowotwor\u00F3w (zw\u0142aszcza guza Wilmsa)."@pl . . . . . . . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u0411\u0435\u043A\u0432\u0438\u0442\u0430 \u2014 \u0412\u0438\u0434\u0435\u043C\u0430\u043D\u0430"@ru . . . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0628\u0643\u0648\u062B \u0648\u062F\u0645\u0627\u0646"@ar . . . . . . . . . "14141" . "Zesp\u00F3\u0142 Beckwitha-Wiedemanna"@pl . "218"@en . . . . . . ""@en . . . . . . "Het Syndroom van Beckwith-Wiedemann (BWS) of exomfalos-macroglossie-gigantisme (EMG) is een genetische aandoening die zich uit in een grote hoeveelheid verschillende aangeboren afwijkingen die in een groot aantal combinaties voorkomen. Pati\u00EBnten hebben een verhoogde kans op wilmstumoren. Het syndroom van Beckwith-Wiedemann treft ongeveer 1 op 15.000 kinderen (tien tot vijftien per jaar in Nederland). Het komt even vaak voor bij jongens als bij meisjes. Dat meerdere kinderen in \u00E9\u00E9n gezin door het syndroom getroffen worden is ongewoon, maar komt voor."@nl . . . "759.89" . . . . . . "Beckwith-Wiedemann-Syndrom"@de . "31315"^^ . . "Beckwith-Wiedemanns syndrom (f\u00F6rkortad BWS) \u00E4r en medf\u00F6dd sjukdom som k\u00E4nnetecknas av storvuxenhet, makroglossi och navelbr\u00E5ck. Barn som drabbas har en \u00F6kad risk f\u00F6r barndomscancer och vissa medf\u00F6dda sjukdomar. Beckwith-Wiedemanns syndrom b\u00F6r misst\u00E4nkas hos individer som har en eller flera av f\u00F6ljande k\u00E4nnetecken. De viktigaste k\u00E4nnetecknen i samband med BWS: \n* Makrosomi (traditionellt definierad som vikt och l\u00E4ngd >97:e percentilen) \n* Makroglossi (tillst\u00E5nd k\u00E4nnetecknat av onormalt stor tunga) \n* Hemihyperplasi (asymmetri med sidoskillnader i storlek mellan kroppshalvorna) \n* Omphalocele (\u00E4ven kallad exomphalos eller navelbr\u00E5ck) \n* Embryonal tum\u00F6r (t.ex Wilms-tum\u00F6r, hepatoblastom, neuroblastom, rhabdomyosarkom) i barndomen \n* Visceromegali som involverar ett eller flera intra-abdominala organ, inklusive levern, mj\u00E4lten, njurarna, binjurarna eller bukspottk\u00F6rteln \n* Cytomegali av fostrets binjurebark \n* Njursvikt, inklusive strukturella deformiteter, nefromegali, nefrokalcinos eller senare utveckling av medull\u00E4r svampnjure \n* Linj\u00E4ra \u00F6ronveck p\u00E5 \u00F6rats framsida och spiralformiga gropar p\u00E5 \u00F6rats bakdel \n* Placental mesenkymalysplasi \n* Gomspalt (s\u00E4llsynt i BWS) \n* Kardiomyopati (s\u00E4llsynt i BWS) \n* Positiv familjehistoria (\u22651 familjemedlemmar med klinisk diagnos av BWS eller en historia eller funktioner som tyder p\u00E5 BWS) Andra associerade k\u00E4nnetecken till BWS: \n* Graviditetsrelaterad polyhydramnios och prematuritet \n* Neonatal hypoglykemi \n* Vaskul\u00E4ra lesioner inklusive nevus simplex (som vanligtvis f\u00F6rekommer i pannan, glabella eller nacke) eller hemangiom (kutan eller extrakutan) \n* Karakt\u00E4ristiska k\u00E4nslor inklusive maxill\u00E4r hypoplasi och infektionsv\u00E5rtor \n* Strukturella hj\u00E4rtanomalier eller kardiomegali \n* Diastas recti (delade magmuskler) \n* Avancerad ben\u00E5lder (vanligt vid \u00F6verv\u00E4xt eller endokrina st\u00F6rningar) Diagnosen av BWS \u00E4r etablerad i en proband med n\u00E5got av f\u00F6ljande: \n* Tre prim\u00E4ra eller tv\u00E5 prim\u00E4ra plus minst ett sekund\u00E4rt kriterium kr\u00E4vs: BWS b\u00F6r betraktas som ett kliniskt spektrum, d\u00E4r vissa drabbade individer endast har ett eller tv\u00E5 f\u00F6reslagna kliniska fynd. D\u00E4rf\u00F6r b\u00F6r de allm\u00E4nt accepterade kliniska kriterierna som f\u00F6resl\u00E5s h\u00E4r inte betraktas som absoluta utan snarare som riktlinjer. Med andra ord kan de inte anv\u00E4ndas f\u00F6r att utesluta en diagnos av BWS och kan inte ers\u00E4tta klinisk bed\u00F6mning. \n* En epigenetisk eller genomisk f\u00F6r\u00E4ndring som leder till onormal metylering vid 11p15.5 eller en heterozygot BWS-orsakande patogen variant i CDKN1C i n\u00E4rvaro av en eller flera kliniska uppt\u00E4ckter."@sv . . . . . "218"^^ . . "Le syndrome de Beckwith-Wiedemann est une maladie g\u00E9n\u00E9tique se caract\u00E9risant par une croissance excessive du f\u0153tus (gigantisme), une grosse langue (macroglossie), une h\u00E9mi-hyperplasie, une hypertrophie des organes (visc\u00E9rom\u00E9galie), une omphaloc\u00E8le ou une hernie ombilicale, une pr\u00E9disposition \u00E0 d\u00E9velopper une tumeur embryonnaire, des anomalies des oreilles et des hypoglyc\u00E9mies."@fr . . . "001186" . . "130650"^^ . . "Q87.3"@en . "Beckwith\u2013Wiedemann Syndrome"@en . . . . . "Beckwith\u2013Wiedemann Syndrome"@en . . . "ped"@en . . . . . "Zesp\u00F3\u0142 Beckwitha-Wiedemanna (ang. Beckwith-Wiedemann syndrome, BWS) \u2013 rzadki, genetycznie uwarunkowany zesp\u00F3\u0142 wad wrodzonych, charakteryzuj\u0105cy si\u0119 przerostem j\u0119zyka, przepuklin\u0105 p\u0119powinow\u0105, nadmiernym wzrostem, hipoglikemi\u0105 w okresie noworodkowym. BWS nale\u017Cy do zespo\u0142\u00F3w zwi\u0119kszonej predyspozycji do nowotwor\u00F3w (zw\u0142aszcza guza Wilmsa)."@pl . . . "Q87.3" . . "Beckwith\u2013Wiedemann syndrome"@en . "Syndrome de Beckwith-Wiedemann"@fr . . "Beckwith\u2013Wiedemann syndrome (/\u02C8b\u025Bk\u02CCw\u026A\u03B8 \u02C8vi\u02D0d\u0259.m\u0259n/; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) cases of BWS are familial, meaning that a close relative may also have BWS, and parents of an affected child may be at increased risk of having other children with BWS. While children with BWS are at increased risk of childhood cancer, most children with BWS do not develop cancer and the vast majority of children who do develop cancer can be treated successfully."@en . . "El s\u00EDndrome Beckwith-Wiedemann (SBW) es una enfermedad gen\u00E9tica o epigen\u00E9tica asociada con un elevado riesgo de formaci\u00F3n de tumor embri\u00F3nico.\u200B La enfermedad es causada en genes reguladores del crecimiento en el cromosoma 11(en la regi\u00F3n 11p15.5) o por errores en impronta gen\u00F3mica.\u200B Los pacientes presentan de forma t\u00EDpica v\u00EDsceras fuera de la zona abdominal (onfalocele), lengua grande (macroglosia), y peso elevado al nacer (macrosom\u00EDa).\u200B La primera descripci\u00F3n fue realizada por \u200B y \u200B en 1969."@es . "767067"^^ . . . "Das Beckwith-Wiedemann-Syndrom, auch unter den Synonymen Wiedemann-Beckwith-Syndrom, Wiedemann-Syndrom und Exomphalos-Makroglossie-Gigantismus-Syndrom (EMG-Syndrom) bekannt, ist ein genetisch bedingtes Gro\u00DFwuchssyndrom, das mit Fehlbildungen und Tumoren verbunden und auf eine Genmutation zur\u00FCckzuf\u00FChren ist."@de . "S\u00EDndrome de Beckwith-Wiedemann"@pt . . . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0628\u0643\u0648\u062B \u0648\u062F\u0645\u0627\u0646 \u0647\u064A \u0645\u062C\u0645\u0648\u0639\u0629 \u0623\u0639\u0631\u0627\u0636 \u062A\u0638\u0647\u0631 \u0639\u0646\u062F \u0627\u0644\u0648\u0644\u0627\u062F\u0629\u060C \u0648\u062A\u0642\u0639 \u0627\u0644\u0645\u0648\u0631\u062B\u0627\u062A \u0627\u0644\u0645\u0633\u0624\u0648\u0644\u0629 \u0639\u0646 \u0627\u0644\u0645\u0631\u0636 \u0639\u0644\u0649 \u0627\u0644\u0630\u0631\u0627\u0639 \u0627\u0644\u0642\u0635\u064A\u0631 \u0645\u0646 11p15 \u0648\u0627\u0644\u062A\u064A \u062A\u062A\u0645\u064A\u0632 \u0628\u0648\u062C\u0648\u062F \u062A\u0636\u062E\u0645 \u0648\u0632\u064A\u0627\u062F\u0629 \u0641\u064A \u062D\u062C\u0645 \u0627\u0644\u062C\u0633\u0645 \u0648\u0627\u0644\u0644\u0633\u0627\u0646 \u0648\u0627\u0644\u0623\u062D\u0634\u0627\u0621 \u0627\u0644\u062F\u0627\u062E\u0644\u064A\u0629\u060C \u0645\u0635\u062D\u0648\u0628\u0629 \u0628\u0647\u0628\u0648\u0637 \u0645\u0633\u062A\u0648\u0649 \u0627\u0644\u0633\u0643\u0631 \u0628\u0627\u0644\u062F\u0645\u060C \u0648\u0642\u062F \u0642\u0627\u0645 \u0627\u0644\u062F\u0643\u062A\u0648\u0631\u0627\u0644\u0623\u0644\u0645\u0627\u0646\u064A ( Hans-Rudolf Wiedemann) \u0628\u0646\u0634\u0631 \u0628\u062D\u062B \u0639\u0627\u0645 1964\u0645 \u0639\u0646 \u0645\u062C\u0645\u0648\u0639\u0629 \u0645\u0646 \u0627\u0644\u062D\u0627\u0644\u0627\u062A \u062A\u062A\u0645\u064A\u0632 \u0628\u0648\u062C\u0648\u062F \u0641\u062A\u0642 \u0641\u064A \u0627\u0644\u0633\u0631\u0629 \u0645\u0639 \u0628\u0631\u0648\u0632 \u0628\u0639\u0636 \u0627\u0644\u0623\u062D\u0634\u0627\u0621 \u0645\u0635\u062D\u0648\u0628\u0629 \u0628\u0643\u0628\u0631 \u062D\u062C\u0645 \u0627\u0644\u0644\u0633\u0627\u0646\u060C \u0648\u0642\u062F \u0635\u0627\u063A \u0627\u0644\u0627\u0633\u0645 \u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0627\u0644\u0641\u062A\u0642 \u0627\u0644\u0633\u0631\u0631\u064A-\u0636\u062E\u0627\u0645\u0629 \u0627\u0644\u0644\u0633\u0627\u0646-\u0627\u0644\u0639\u0645\u0644\u0642\u0629 (exomphalos-macroglossia-gigantism [EMG] syndrome)\u060C \u0648\u0641\u064A \u0639\u0627\u0645 1969\u0645 \u0642\u0627\u0645 \u0627\u0644\u062F\u0643\u062A\u0648\u0631\u0627\u0644\u0623\u0645\u0631\u064A\u0643\u064A (J. Bruce Beckwith )\u0628\u0646\u0634\u0631 \u0628\u062D\u062B \u0639\u0646 \u0645\u062C\u0645\u0648\u0639\u0629 \u062D\u0627\u0644\u0627\u062A \u0623\u062E\u0631\u0649\u060C \u0648\u0645\u0646 \u062B\u0645 \u0639\u0631\u0641\u062A \u062A\u0644\u0643 \u0627\u0644\u062D\u0627\u0644\u0627\u062A \u0628\u0623\u0633\u0645\u0647\u0645\u0627. \u062A\u062D\u062F\u062B \u062D\u0627\u0644\u0629 \u0648\u0627\u062D\u062F\u0629 \u0644\u0643\u0644 15.000 \u0645\u0648\u0644\u0648\u062F."@ar . "ped"@en . . "Beckwith-Wiedemanns syndrom (f\u00F6rkortad BWS) \u00E4r en medf\u00F6dd sjukdom som k\u00E4nnetecknas av storvuxenhet, makroglossi och navelbr\u00E5ck. Barn som drabbas har en \u00F6kad risk f\u00F6r barndomscancer och vissa medf\u00F6dda sjukdomar. Beckwith-Wiedemanns syndrom b\u00F6r misst\u00E4nkas hos individer som har en eller flera av f\u00F6ljande k\u00E4nnetecken. De viktigaste k\u00E4nnetecknen i samband med BWS: Andra associerade k\u00E4nnetecken till BWS: Diagnosen av BWS \u00E4r etablerad i en proband med n\u00E5got av f\u00F6ljande:"@sv . . . "1120999886"^^ . . "759.89"^^ .