The Beckwith-Wiedemann syndrome phenotype and the risk of cancer.
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.
Schneid
H
H
Laboratoire d'Explorations Fonctionnelles Endocriniennes, Hôpital Annand-Trousseau, Paris, France.
Vazquez
M P
MP
Vacher
C
C
Gourmelen
M
M
Cabrol
S
S
Le Bouc
Y
Y
D001506:Beckwith-Wiedemann Syndrome / Q000097:blood / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D007335:Insulin-Like Growth Factor II / Q000378:metabolism; D008297:Male; D009369:Neoplasms / Q000097:blood / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D012306:Risk
D007334:Insulin-Like Growth Factor I; D007335:Insulin-Like Growth Factor II