Beckwith-Wiedemann Syndrome Associated Childhood Tumors
Beckwith-Wiedemann syndrome (BWS) is a complex overgrowth disorder caused by a number of genes that are subject to genomic imprinting. A high incidence of solid childhood tumors is seen in patients that present with BWS.
Beckwith-Wiedemann syndrome is a disorder first described by Beckwith in 1963 at the 11th annual meeting of the Western Society for Pediatric Research. Later, Wiedemann and Beckwith described the syndrome in more detail (Beckwith 1969). BWS is characterized by a great variety of clinical features, among which are abdominal wall defects, macroglossia, pre- and postnatal gigantism, earlobe pits or creases, facial nevus flammeus, hypoglycemia, renal abnormalities, and hemihypertrophy. BWS patients have a high risk (4.2–25 %, on average 8.6 %) of developing (mostly intra-abdominal) childhood tumors. Tumors most frequently found are Wilms tumor(WT), adrenocortical carcinoma (ACC), rhabdomyosarcoma (RMS), and hepatoblastoma...
KeywordsFamilial Adenomatous Polyposis Imprint Gene Adrenocortical Carcinoma Adenomatous Polyposis Coli Gene Uniparental Disomy
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