-
Spivey PS, Bradshaw WT. Recognition and management of the infant with Beckwith-Wiedemann Syndrome. Adv Neonatal Care. 2009 Dec. 9(6):279-84; quiz 285. [Medline].
-
Murphy R, Mackay D, Mitchell EA. Beckwith Wiedemann imprinting defect found in leucocyte but not buccal dna in a child born small for gestational age. BMC Med Genet. 2012 Nov 1. 13(1):99. [Medline].
-
DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry. J Pediatr. 1998 Mar. 132(3 Pt 1):398-400. [Medline].
-
Kent L, Bowdin S, Kirby GA, Cooper WN, Maher ER. Beckwith Weidemann syndrome: a behavioral phenotype-genotype study. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5. 147B(7):1295-7. [Medline].
-
Bertoin F, Letouzé E, Grignani P, Patey M, Rossignol S, Libé R, et al. Genome-Wide Paternal Uniparental Disomy as a Cause of Beckwith-Wiedemann Syndrome Associated with Recurrent Virilizing Adrenocortical Tumors. Horm Metab Res. 2014 Nov 3. [Medline].
-
Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, Yoshinaga H, Okamoto N, et al. Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. Clin Genet. 2014 Aug 29. [Medline].
-
Kaltenbach S, Capri Y, Rossignol S, Denjoy I, Soudée S, Aboura A, et al. Beckwith-Wiedemann Syndrome and Long QT Syndrome due to familial balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene. Clin Genet. 2012 Oct 15. [Medline].
-
[Guideline] Newborn Nursery QI Committee. Neonatal hypoglycemia: initial and follow up management. The Barbara Bush Children''s Hospital at Maine Medical Center. 2004 Jul. [Full Text].
-
[Guideline] Wight N, Marinelli KA. ABM clinical protocol #1: guidelines for glucose monitoring and treatment of hypoglycemia in breastfed neonates. Breastfeed Med. 2006 Autumn. 1(3):178-84. [Medline].
-
Al-Zubeidi H, Gottschalk ME, Newfield RS. Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia. Int J Pediatr Endocrinol. 2014. 2014(1):18. [Medline]. [Full Text].
-
Kittur MA, Padgett J, Drake D. Management of macroglossia in Beckwith-Wiedemann syndrome. Br J Oral Maxillofac Surg. 2012 Feb 14. [Medline].
-
Heggie AA, Vujcich NJ, Portnof JE, Morgan AT. Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. Int J Oral Maxillofac Surg. 2012 Oct 3. [Medline].
-
Choyke PL, Siegel MJ, Oz O, et al. Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. AJR Am J Roentgenol. 1998 Sep. 171(3):733-7. [Medline].
-
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 Mar. 132(3 Pt 1):401-4. [Medline].
-
Vora N, Bianchi DW. Genetic considerations in the prenatal diagnosis of overgrowth syndromes. Prenat Diagn. 2009 Oct. 29(10):923-9. [Medline].
-
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 Aug. 143(2):270-2. [Medline].
-
McNeil DE, Brown M, Ching A, DeBaun MR. Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a cost-effective model. Med Pediatr Oncol. 2001 Oct. 37(4):349-56. [Medline].
-
Azouz EM, Larson EJ, Patel J, Gyepes MT. Beckwith-Wiedemann syndrome: development of nephroblastoma during the surveillance period. Pediatr Radiol. 1990. 20(7):550-2. [Medline].
-
Beckwith J. Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects. 1969. 5:188.
-
Beckwith JB. Children at increased risk for Wilms tumor: monitoring issues. J Pediatr. 1998 Mar. 132(3 Pt 1):377-9. [Medline].
-
Bell AC, Felsenfeld G. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature. 2000 May 25. 405(6785):482-5. [Medline].
-
Chang AS, Moley KH, Wangler M, et al. Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients. Fertil Steril. 2005. 83:349-354. [Medline].
-
Cooper WN, Curley R, Macdonald F, Maher ER. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics. 2007. 89:613-7. [Medline].
-
Craft AW, Parker L, Stiller C, Cole M. Screening for Wilms' tumour in patients with aniridia, Beckwith syndrome, or hemihypertrophy. Med Pediatr Oncol. 1995 Apr. 24(4):231-4. [Medline].
-
D'Ercole AJ. Actions of IGF system proteins from studies of transgenic and gene knockout models. Rosenfeld RG, Roberts CT Jr, eds. The Igf System: Molecular Biology, Physiology, and Cinical Applications. 1st ed. Humana Press; 1999. 545-574.
-
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 Mar. 70(3):604-11. [Medline]. [Full Text].
-
Finegold DN, Stanley CA, Baker L. Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr. 1980 Feb. 96(2):257-9. [Medline].
-
Goldman M, Shuman C, Weksberg R, Rosenblum ND. Hypercalciuria in Beckwith-Wiedemann syndrome. J Pediatr. 2003. 142:206-208. [Medline].
-
Gotlin RW. Diazoxide therapy in the syndrome of Beckwith-Weidemann-Coombs. J Pediatr. 1973 Aug. 83(2):342-3. [Medline].
-
Grandjean V, Smith J, Schofield PN, Ferguson-Smith AC. Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndrome. Proc Natl Acad Sci U S A. 2000 May 9. 97(10):5279-84. [Medline]. [Full Text].
-
Grati FR, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, et al. Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome. J Med Genet. 2007. 44:257-63. [Medline].
-
Greally JM. Genomic imprinting and chromatin insulation in Beckwith-Wiedemann syndrome. Mol Biotechnol. 1999 Apr. 11(2):159-73. [Medline].
-
Hatada I, Mukai T. Genomic imprinting and Beckwith-Wiedemann syndrome. Histol Histopathol. 2000 Jan. 15(1):309-12. [Medline].
-
Kacker A, Honrado C, Martin D, Ward R. Tongue reduction in Beckwith-Weidemann syndrome. Int J Pediatr Otorhinolaryngol. 2000. 53:1-7. [Medline].
-
Krajewska-Walasek M, Gutkowska A, Mospinek-Krasnopolska M, Chrzanowska K. A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat]. Acta Genet Med Gemellol (Roma). 1996. 45(1-2):245-50. [Medline].
-
Lau MM, Stewart CE, Liu Z, et al. Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality. Genes Dev. 1994 Dec 15. 8(24):2953-63. [Medline].
-
Li T, Vu TH, Ulaner GA, et al. IVF results in de novo DNA methylation and histone methylation at an Igf2-H19 imprinting epigenetic switch. Mol Hum Reprod. 2005 Sep. 11(9):631-40. [Medline].
-
Ludwig T, Eggenschwiler J, Fisher P, et al. Mouse mutants lacking the type 2 IGF receptor (IGF2R) are rescued from perinatal lethality in Igf2 and Igf1r null backgrounds. Dev Biol. 1996 Aug 1. 177(2):517-35. [Medline].
-
Maher ER, Reik W. Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest. 2000 Feb. 105(3):247-52. [Medline]. [Full Text].
-
Martin RA, Grange DK, Zehnbauer B. LIT1 and H19 methylation defects in isolated hemihyperplasia. Am J Med Genet A. 2005. 134:129-131. [Medline].
-
McNeil DE, Langer JC, Choyke P, DeBaun MR. Feasibility of partial nephrectomy for Wilms' tumor in children with Beckwith-Wiedemann syndrome who have been screened with abdominal ultrasonography. J Pediatr Surg. 2002 Jan. 37(1):57-60. [Medline].
-
Moore ES, Ward RE, Escobar LF, Carlin ME. Heterogeneity in Wiedemann-Beckwith syndrome: anthropometric evidence. Am J Med Genet. 2000 Feb 14. 90(4):283-90. [Medline].
-
Moore T, Constancia M, Zubair M, et al. Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2. Proc Natl Acad Sci U S A. 1997 Nov 11. 94(23):12509-14. [Medline]. [Full Text].
-
NCBI. Beckwith-Wiedemann Syndrome. National Center for Biotechnology Information Site. [Full Text].
-
Niemitz EL, DeBaun MR, Fallon J, et al. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am J Hum Genet. 2004. 75:844-849. [Medline]. [Full Text].
-
Pfeifer K, Leighton PA, Tilghman SM. The structural H19 gene is required for transgene imprinting. Proc Natl Acad Sci U S A. 1996 Nov 26. 93(24):13876-83. [Medline]. [Full Text].
-
Reeve AE. Role of genomic imprinting in Wilms' tumour and overgrowth disorders. Med Pediatr Oncol. 1996 Nov. 27(5):470-5. [Medline].
-
Runge S, Nielsen FC, Nielsen J, et al. H19 RNA binds four molecules of insulin-like growth factor II mRNA- binding protein. J Biol Chem. 2000 Sep 22. 275(38):29562-9. [Medline]. [Full Text].
-
Schwienbacher C, Angioni A, Scelfo R, Veronese A, Calin GA, Massazza G. Abnormal RNA expression of 11p15 imprinted genes and kidney developmental genes in Wilms' tumor. Cancer Res. 2000 Mar 15. 60(6):1521-5. [Medline]. [Full Text].
-
Slatter RE, Elliott M, Welham K, et al. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet. 1994 Oct. 31(10):749-53. [Medline].
-
Sperandeo MP, Ungaro P, Vernucci M, et al. Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes. Am J Hum Genet. 2000 Mar. 66(3):841-7. [Medline]. [Full Text].
-
Stanley CA, Baker L. The causes of neonatal hypoglycemia. N Engl J Med. 1999 Apr 15. 340(15):1200-1. [Medline].
-
Stumm M, Tonnies H, Wieacker PF. Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease. Eur J Pediatr. 1999 Jul. 158(7):531-6. [Medline].
-
Wangler MF, An P, Feinberg AP. Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband. Am J Med Genet A. 2005. 137:16-21. [Medline]. [Full Text].
-
Wiedemann H. Complexe malformatif familial avec hernie ombilicale et macroglossie—un syndrome nouveau?. J Genet Hum. 1964. 13:223.
-
Winter SC, Curry CJ, Smith JC, et al. Prenatal diagnosis of the Beckwith-Wiedemann syndrome. Am J Med Genet. 1986 May. 24(1):137-41. [Medline].
-
Mussa A, Molinatto C, Baldassarre G, Riberi E, Russo S, Larizza L, et al. Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. J Pediatr. 2016 Sep. 176:142-149.e1. [Medline].
