Beckwith-Wiedemann Syndrome, Tumorigenesis and Imprinting
The Beckwith-Wiedemann syndrome (BWS) occurs with an incidence of 1 in 13 700 live births and is characterized by numerous growth abnormalities, including exomphalos, macroglossia, visceromegaly and gigantism. These features show variable expression and can be found in association with multiple abnormalities including neonatal hypoglycemia, ear lobe creases and pits, and hemihypertrophy. The clinical findings in BWS patients are highly variable, tending to become less distinctive with age. The syndrome may therefore be underdiagnosed in adults. An increased incidence (7.5%) of different types of childhood tumors is observed, including the following tumors: Wilms’ tumor (59%), adrenocortical carcinoma (15%) and a few instances of hepatoblastoma, rhabdomyosarcoma and neuroblastoma (Wiedemann 1983). Hemihypertrophy, nephrogenic rest, Wilms’ tumor and BWS commonly occur together.
KeywordsAdrenocortical Carcinoma Paternal Allele Maternal Allele Neonatal Hypoglycemia Embryonal Rhabdomyosarcoma
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