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The Beckwith-Wiedemann syndrome phenotype and the risk of cancer

✍ Scribed by Schneid, H.; Vazquez, M.P.; Vacher, C.; Gourmelen, M.; Cabrol, S.; Le Bouc, Y.


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
112 KB
Volume
28
Category
Article
ISSN
0098-1532

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✦ Synopsis


Beckwith-Wiedemann syndrome (BWS) comprises of a number of childhood abnormalities, often associated with one or more tumors. Thirty-eight patients were investigated to determine clinical and/or biological signs associated with a tumor presence. Our patients exhibited a higher incidence of tumor development (21%) than that previously reported, underlying the care with which such patients should be followed, when particular clinical features are observed: visceromegaly affecting three organs (liver, kidney, spleen), and also family history with sign of BWS such as macroglossia, omphalocele, hemihypertrophy, embryonic tumor), high body weight at birth (> or = +2 standard deviations and diastasis recti.


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The Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that occurs with an incidence of 1:13,700 births. There is a striking incidence of childhood tumors found in BWS patients. Various lines of investigation have localized "imprinted" genes involved in BWS and associated child