Beckwith-Wiedemann

Caspary T, Cleary MA, Perlman EJ, Zhang P, Elledge SJ, Tilghman SM 1999 Oppositely imprinted genes p57(Kip2) and Igf2 interact in a mouse model for Beckwith-Wiedemann syndrome. Genes Dev 13 3115-3124... 

Grandjean V, Smith J, Schofield PN, Ferguson-Smith AC 2000 Increased IGF-II protein affects p57kip2 expression in vivo and inviLro implications for Beckwith—Wiedemann syndrome. Proc Nad Acad Sci USA 97 5279-5284... 

Reik W, Maher ER 1997 Imprinting in clusters lessons from Beckwith-Wiedemann syndrome. Trends Genet 13 330—334... 

Sun FL, Dean WL, Kelsey G, Allen ND, Reik W 1997 Transactivation oiIgf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389 809-815... 

Engel JR, Smallwood A, Harper A et al. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Genet 2000 37[12] 921-926. 

Children afflicted with Beckwith-Wiedemann syndrome (BWS) show an overgrowth condition from birth as well as macroglossla (enlarged tongue). 

Horike, S, Mitsuya, K., Meguro, M., et al. 2000. Targeted disruption of the human LITl locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome. Hum. Mol. Genet. 9, 2075-2083. 

Smilinich, N.J., Day, C. D., Fitzpatrick, G.V., et al. 1999. A maternally methylated CpG island in KfLQTl is associated with an anti-sense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc. Natl Acad. Sci. USA 96, 8064-8069. 

Complete agenesis of the pancreas is usually incompatible with life. Therefore, pancreatic aplasia or hypoplasia is uncommon in humans. Patients with pancreatic hypoplasia will have a normal development of the pancreas in size and shape but later in life will have a replacement of the glandular elements with fatty tissue. Some of these patients will present with an abnormal exocrine pancreatic insufficiency and normal endocrine function. Children with syndromes such as Schwachman-Diamond, Beckwith-Wiedemann, polysplenia bilobed lungs, and congenital heart disease have a higher relative risk of hypoplasia of the pancreas (Gazelle et al. 1998). 

Pancreaticoblastoma, or infantile adenocarcinoma, is a rare tumor in children (Monte marano et al. 2000 Roebuck et al. 2001). It usually presents in the fourth year of life with males being more affected than females. This tumor conunonly arises from the head or tail of the gland, and has been associated with Beckwith-Wiedemann syndrome. Microscopic analysis will show proliferation of poor differentiated squamous cells surrounded by a fibrous capsule. Although it has a better prognosis than the adult adenocarcinoma, metastases can occur and are commonly present at the time of the initial exam or diagnosis. Common sites for metastases include the liver and lymph nodes. Lung and brain metastasis are rarely seen. Usually, vanillylmandelic acids (VMA) are not elevated but the alpha-fetoprotein is. 

Meckel syndrome Zellweger syndrome Beckwith-Wiedemann Sy,... 

NRs are found in 41% of unilateral WT specimens, in 99% of synchronous bilateral WT and in 94% of metachronous bilateral WT. ILNRs are associated with WTl syndromes, whereas PLNRs are more commonly observed in Beckwith-Wiedemann or WT2-related syndromes (Beckwith et al. 1990). 

Andrews MW, Amparo EG (1993) Wilms tumor in a patient with Beckwith-Wiedemann syndrome onset detected with 3-month serial sonography. AJR Am J Roentgenol 160(1) 139-140... 

Bliek J, Gicquel C, Maas S et al (2004) Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS). J Pediatr 145(6) 796-799... 

Choyke PL, Siegel MJ, Craft AW et al (1999) Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy. Med Pediatr Oncol 32(3) 196-200... 

Cohen MD (1994) Current controversy is computed tomography scan of the chest needed in patients with Wilms tumor Am J Pediatr Hematol Oncol 16(3) 191-193 Cooper WN, Luharia A, Evans GA et al (2005) Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet 13(9) 1025-1032 Coppes MJ, Arnold M, Beckwith JB et al (1999) Factors affecting the risk of contralateral Wilms tumor development a report from the National Wilms Tumor Study Group. Cancer 85(7) 1616-1625... 

DeBaun MR, Tucker MA (1998) Risk of cancer during the first 4 years of life in children from The Beckwith-Wiedemann Syndrome Registry. J Pediatr 132(3 Pt l) 398-400 Ditchfield M (1997) Imaging and staging of Wilms tumour. Pediatr Radiol 27(3) 285... 

Porteus MH, Narkool P, Neuberg D et al (2000) Characteristics and outcome of children with Beckwith-Wiedemann syndrome and Wilms tumor a report from the National... 

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