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referencesuptodate· REFERENCES· item f23_57_24473

REFERENCES Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010; 18:8. Beckwith JB. Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig-cell hyperplasia: Another syndrome? (Abstract), Western Society for Pediatric Research (Ed), Los Angeles 1963. WIEDEMANN HR. [FAMILIAL MALFORMATION COMPLEX WITH UMBILICAL HERNIA AND MACROGLOSSIA--A "NEW SYNDROME"?]. J Genet Hum 1964; 13:223. Pettenati MJ, Haines JL, Higgins RR, et al. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 1986; 74:143. Weksberg R, Shuman C, Caluseriu O, et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 2002; 11:1317. Cooper WN, Luharia A, Evans GA, et al. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2005; 13:1025. Enklaar T, Zabel BU, Prawitt D. Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Expert Rev Mol Med 2006; 8:1. Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2005; 137C:12. Bliek J, Maas S, Alders M, et al. Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia. J Pediatr 2008; 153:95. Meyer E, Lim D, Pasha S, et al. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoS Genet 2009; 5:e1000423. Mackay DJ, Callaway JL, Marks SM, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008; 40:949. Naik S, Riordan-Eva E, Thomas NS, et al. Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome. Eur J Med Genet 2011; 54:89. Lirussi F, Jonard L, Gaston V, et al. Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency. Am J Med Genet A 2007; 143A:2796. Hark AT, Schoenherr CJ, Katz DJ, et al. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 2000; 405:486.

referencesuptodate· REFERENCES· item f23_57_24473

Naik S, Riordan-Eva E, Thomas NS, et al. Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome. Eur J Med Genet 2011; 54:89. Lirussi F, Jonard L, Gaston V, et al. Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency. Am J Med Genet A 2007; 143A:2796. Hark AT, Schoenherr CJ, Katz DJ, et al. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 2000; 405:486. Smilinich NJ, Day CD, Fitzpatrick GV, et al. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci U S A 1999; 96:8064. Diaz-Meyer N, Day CD, Khatod K, et al. Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J Med Genet 2003; 40:797. Weksberg R, Smith AC, Squire J, Sadowski P. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 2003; 12 Spec No 1:R61. Weksberg R, Shuman C. Beckwith-Wiedemann syndrome and hemihypertrophy. In: Management of genetic syndromes, 2nd ed, Cassidy SB, Allanson JE (Eds), John Wiley & Sons, Inc, New York 2005. Niemitz EL, DeBaun MR, Fallon J, et al. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am J Hum Genet 2004; 75:844. Prawitt D, Enklaar T, Gärtner-Rupprecht B, et al. Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Proc Natl Acad Sci U S A 2005; 102:4085. Sparago A, Cerrato F, Vernucci M, et al. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet 2004; 36:958. Shuman C, Smith AC, Weksberg R. Beckwith-Wiedemann Syndrome. GeneReviews [Internet] 2008. Elliott M, Bayly R, Cole T, et al. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 1994; 46:168. Weng EY, Moeschler JB, Graham JM Jr. Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome. Am J Med Genet 1995; 56:366. Wilson M, Peters G, Bennetts B, et al. The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports. Am J Med Genet A 2008; 146A:137.

referencesuptodate· REFERENCES· item f23_57_24473

Elliott M, Bayly R, Cole T, et al. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 1994; 46:168. Weng EY, Moeschler JB, Graham JM Jr. Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome. Am J Med Genet 1995; 56:366. Wilson M, Peters G, Bennetts B, et al. The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports. Am J Med Genet A 2008; 146A:137. Chitayat D, Rothchild A, Ling E, et al. Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. Am J Med Genet 1990; 36:434. Weksberg R, The Hospital for Sick Children, Toronto, personal communication, 2010. Hoyme HE, Seaver LH, Jones KL, et al. Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. Am J Med Genet 1998; 79:274. Engström W, Lindham S, Schofield P. Wiedemann-Beckwith syndrome. Eur J Pediatr 1988; 147:450. Martínez y Martínez R, Ocampo-Campos R, Pérez-Arroyo R, et al. The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism. Eur J Pediatr 1985; 143:233. Goldman M, Shuman C, Weksberg R, Rosenblum ND. Hypercalciuria in Beckwith-Wiedemann syndrome. J Pediatr 2003; 142:206. Borer JG, Kaefer M, Barnewolt CE, et al. Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome. J Urol 1999; 161:235. Choyke PL, Siegel MJ, Oz O, et al. Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. AJR Am J Roentgenol 1998; 171:733. Gardiner K, Chitayat D, Choufani S, et al. Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet A 2012; 158A:1388. Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005; 8:287. DeBaun MR, Siegel MJ, Choyke PL. Nephromegaly in infancy and early childhood: a risk factor for Wilms tumor in Beckwith-Wiedemann syndrome. J Pediatr 1998; 132:401. Schneid H, Vazquez MP, Vacher C, et al. The Beckwith-Wiedemann syndrome phenotype and the risk of cancer. Med Pediatr Oncol 1997; 28:411. Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW. Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. J Pediatr 1980; 96:47.

referencesuptodate· REFERENCES· item f23_57_24473

DeBaun MR, Siegel MJ, Choyke PL. Nephromegaly in infancy and early childhood: a risk factor for Wilms tumor in Beckwith-Wiedemann syndrome. J Pediatr 1998; 132:401. Schneid H, Vazquez MP, Vacher C, et al. The Beckwith-Wiedemann syndrome phenotype and the risk of cancer. Med Pediatr Oncol 1997; 28:411. Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW. Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. J Pediatr 1980; 96:47. Tan TY, Amor DJ. Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. J Paediatr Child Health 2006; 42:486. Wiedemann HR. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome (Letter to the Editor). Eur J Pediatr 1983; 141:129. Kent L, Bowdin S, Kirby GA, et al. Beckwith Weidemann syndrome: a behavioral phenotype-genotype study. Am J Med Genet B Neuropsychiatr Genet 2008; 147B:1295. Slavotinek A, Gaunt L, Donnai D. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. J Med Genet 1997; 34:819. Bliek J, Gicquel C, Maas S, et al. Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS). J Pediatr 2004; 145:796. Bliek J, Maas SM, Ruijter JM, et al. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet 2001; 10:467. DeBaun MR, Niemitz EL, McNeil DE, et al. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002; 70:604. Rump P, Zeegers MP, van Essen AJ. Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis. Am J Med Genet A 2005; 136:95. Scott RH, Douglas J, Baskcomb L, et al. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet 2008; 40:1329. Weksberg R, Nishikawa J, Caluseriu O, et al. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Hum Mol Genet 2001; 10:2989.

referencesuptodate· REFERENCES· item f23_57_24473

Scott RH, Douglas J, Baskcomb L, et al. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet 2008; 40:1329. Weksberg R, Nishikawa J, Caluseriu O, et al. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Hum Mol Genet 2001; 10:2989. DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 2003; 72:156. Engel JR, Smallwood A, Harper A, et al. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Genet 2000; 37:921. Waziri M, Patil SR, Hanson JW, Bartley JA. Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J Pediatr 1983; 102:873. Smith AC, Rubin T, Shuman C, et al. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenet Genome Res 2006; 113:313. Smith AC, Shuman C, Chitayat D, et al. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. Am J Med Genet A 2007; 143A:3010. Scott RH, Douglas J, Baskcomb L, et al. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. J Med Genet 2008; 45:106. Bliek J, Verde G, Callaway J, et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 2009; 17:611. Hatada I, Nabetani A, Morisaki H, et al. New p57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum Genet 1997; 100:681. Lee MP, DeBaun M, Randhawa G, et al. Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome. Am J Hum Genet 1997; 61:304. Gicquel C, Gaston V, Mandelbaum J, et al. In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet 2003; 72:1338. Halliday J, Oke K, Breheny S, et al. Beckwith-Wiedemann syndrome and IVF: a case-control study. Am J Hum Genet 2004; 75:526.

referencesuptodate· REFERENCES· item f23_57_24473

Gicquel C, Gaston V, Mandelbaum J, et al. In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet 2003; 72:1338. Halliday J, Oke K, Breheny S, et al. Beckwith-Wiedemann syndrome and IVF: a case-control study. Am J Hum Genet 2004; 75:526. Maher ER, Afnan M, Barratt CL. Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs? Hum Reprod 2003; 18:2508. Li M, Squire J, Shuman C, et al. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics 2001; 74:370. Baskin B, Molecular Genetics Specialist, Pediatric Laboratory Medicine, The Hospital for Sick Children, personal communication, 2010. Storm DW, Hirselj DA, Rink B, et al. The prenatal diagnosis of Beckwith-Wiedemann syndrome using ultrasound and magnetic resonance imaging. Urology 2011; 77:208. Wilkins-Haug L, Porter A, Hawley P, Benson CB. Isolated fetal omphalocele, Beckwith-Wiedemann syndrome, and assisted reproductive technologies. Birth Defects Res A Clin Mol Teratol 2009; 85:58. Souka AP, Snijders RJ, Novakov A, et al. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1998; 11:391. Ballock RT, Wiesner GL, Myers MT, Thompson GH. Hemihypertrophy. Concepts and controversies. J Bone Joint Surg Am 1997; 79:1731. Leung AK, Fong JH, Leong AG. Hemihypertrophy. J R Soc Promot Health 2002; 122:24. Jones SM, Rahman RS, Bourgeois DJ 3rd, et al. Hemihyperplasia in a 4-month-old. Clin Pediatr (Phila) 2011; 50:367. Eggermann T, Schönherr N, Meyer E, et al. Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. J Med Genet 2006; 43:615. Beckwith JB. Nephrogenic rests and the pathogenesis of Wilms tumor: developmental and clinical considerations. Am J Med Genet 1998; 79:268. Kimura Y, Kamada Y, Kimura S. Anesthetic management of two cases of Beckwith-Wiedemann syndrome. J Anesth 2008; 22:93. Tomlinson JK, Morse SA, Bernard SP, et al. Long-term outcomes of surgical tongue reduction in Beckwith-Wiedemann syndrome. Plast Reconstr Surg 2007; 119:992. Teplick A, Kowalski M, Biegel JA, Nichols KE. Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. Eur J Pediatr 2011; 170:285.

referencesuptodate· REFERENCES· item f23_57_24473

Tomlinson JK, Morse SA, Bernard SP, et al. Long-term outcomes of surgical tongue reduction in Beckwith-Wiedemann syndrome. Plast Reconstr Surg 2007; 119:992. Teplick A, Kowalski M, Biegel JA, Nichols KE. Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. Eur J Pediatr 2011; 170:285. Clericuzio CL, Martin RA. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. Genet Med 2009; 11:220. Zarate YA, Mena R, Martin LJ, et al. Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A 2009; 149A:1691. Everman DB, Shuman C, Dzolganovski B, et al. Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome. J Pediatr 2000; 137:123. Clericuzio CL, Chen E, McNeil DE, et al. Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. J Pediatr 2003; 143:270. Greer KJ, Kirkpatrick SJ, Weksberg R, Pauli RM. Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. Am J Med Genet A 2008; 146A:1707. Topic 13555 Version 7.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.6- C21.56 Licensed to: AsanBook Dig. Med. Lib. | Support Tag: [0505-61.234.146.186-7D7969DF47-S244013.14]