Definition
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.
Characteristics
Diagnostic Criteria
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...
References
Beckwith J (1969) Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. Birth Defects 5:188–196
Bliek J, Gicquel C, Maas S et al (2004) Epigenotyping as a tool for the prediction of tumour type and tumour risk in Beckwith-Wiedemann syndrome patients. J Pediatr 145:796–799
Eggermann T, Algar E et al (2014) Clinical utility card for: Beckwith-Wiedemann syndrome. Eur J Hum Genet 22(3). doi:10.1038/ejhg.2013.132. Epub 3 July 2013
Steenman M, Westerveld A, Mannens M (2000) Genetics of Beckwith-Wiedemann syndrome associated tumors: common genetic pathways. Genes Chromosom Cancer 28:1–13
Wiedemann H (1964) Complexe malformatif familial avec hernie ombilicale et macroglossie, un ‘syndrome nouveau’. J Genet Hum 13:223–232
See Also
(2012) FOXO1A. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1447. doi:10.1007/978-3-642-16483-5_2256
(2012) P53. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2747. doi:10.1007/978-3-642-16483-5_4331
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Mannens, M. (2015). Beckwith-Wiedemann Syndrome Associated Childhood Tumors. In: Schwab, M. (eds) Encyclopedia of Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27841-9_575-2
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DOI: https://doi.org/10.1007/978-3-642-27841-9_575-2
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