Beckwith-Wiedemann Syndrome Differential Diagnoses

  • Author: Robert J Ferry Jr, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Apr 15, 2010
 
 
 
Contributor Information and Disclosures
Author

Robert J Ferry Jr, MD  Chief, Division of Pediatric Endocrinology and Metabolism, Le Bonheur Children's Hospital; Professor, Department of Pediatrics, University of Tennessee Health Science Center at Memphis; St. Jude Children's Research Hospital, Memphis, TN; Brigade Surgeon, 36th Sustainment Brigade, U.S. Army; Adjunct Professor, Pediatric Surgery Department, King Saud University, Riyadh, Saudi Arabia

Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Nutropin Speakers Bureau Honoraria Speaking and teaching; Genotropin Speakers Bureau Honoraria Speaking and teaching; Eli Lilly & Co. Grant/research funds Independent contractor; MacroGenics, Inc. Grant/research funds Independent contractor; Ipsen, S.A. (formerly Tercica, Inc.) Grant/research funds Independent contractor; NovoNordisk SA Grant/research funds Independent contractor; Diamyd Independent contractor

Specialty Editor Board

Phyllis W Speiser, MD  Chief, Division of Pediatric Endocrinology, The Children's Hospital, North Shore LIJ Health System; Professor of Pediatrics, New York University School of Medicine

Phyllis W Speiser, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Barry B Bercu, MD  Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital

Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Federation for Clinical Research, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Lawson-Wilkins Pediatric Endocrine Society, Pituitary Society, Society for Pediatric Research, Society for the Study of Reproduction, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Merrily P M Poth, MD  Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences

Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Genentech, Inc. Honoraria Speaking and teaching; Pfizer, Inc. Honoraria Consulting

References
  1. Spivey PS, Bradshaw WT. Recognition and management of the infant with Beckwith-Wiedemann Syndrome. Adv Neonatal Care. Dec 2009;9(6):279-84; quiz 285. [Medline].

  2. DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry. J Pediatr. Mar 1998;132(3 Pt 1):398-400. [Medline].

  3. 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. Oct 5 2008;147B(7):1295-7. [Medline].

  4. [Guideline] Newborn Nursery QI Committee. Neonatal hypoglycemia: initial and follow up management. The Barbara Bush Children's Hospital at Maine Medical Center. Jul 2004;[Full Text].

  5. [Guideline] Wight N, Marinelli KA. ABM clinical protocol #1: guidelines for glucose monitoring and treatment of hypoglycemia in breastfed neonates. Breastfeed Med. Autumn 2006;1(3):178-84. [Medline].

  6. Choyke PL, Siegel MJ, Oz O, et al. Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. AJR Am J Roentgenol. Sep 1998;171(3):733-7. [Medline].

  7. DeBaun MR, Siegel MJ, Choyke PL. Nephromegaly in infancy and early childhood: a risk factor for Wilms tumor in Beckwith-Wiedemann syndrome. J Pediatr. Mar 1998;132(3 Pt 1):401-4. [Medline].

  8. Vora N, Bianchi DW. Genetic considerations in the prenatal diagnosis of overgrowth syndromes. Prenat Diagn. Oct 2009;29(10):923-9. [Medline].

  9. 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. Aug 2003;143(2):270-2. [Medline].

  10. 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. Oct 2001;37(4):349-56. [Medline].

  11. 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].

  12. Beckwith J. Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects. 1969;5:188.

  13. Beckwith JB. Children at increased risk for Wilms tumor: monitoring issues. J Pediatr. Mar 1998;132(3 Pt 1):377-9. [Medline].

  14. Bell AC, Felsenfeld G. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature. May 25 2000;405(6785):482-5. [Medline].

  15. 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].

  16. Cooper WN, Curley R, Macdonald F, Maher ER. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics. 2007;89:613-7. [Medline].

  17. Craft AW, Parker L, Stiller C, Cole M. Screening for Wilms' tumour in patients with aniridia, Beckwith syndrome, or hemihypertrophy. Med Pediatr Oncol. Apr 1995;24(4):231-4. [Medline].

  18. D'Ercole AJ. Actions of IGF system proteins from studies of transgenic and gene knockout models. In: Rosenfeld RG, Roberts CT Jr, eds. The Igf System: Molecular Biology, Physiology, and Cinical Applications. ed. Humana Press; 1999:545-574.

  19. 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. Mar 2002;70(3):604-11. [Medline]. [Full Text].

  20. Finegold DN, Stanley CA, Baker L. Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr. Feb 1980;96(2):257-9. [Medline].

  21. Goldman M, Shuman C, Weksberg R, Rosenblum ND. Hypercalciuria in Beckwith-Wiedemann syndrome. J Pediatr. 2003;142:206-208. [Medline].

  22. Gotlin RW. Diazoxide therapy in the syndrome of Beckwith-Weidemann-Coombs. J Pediatr. Aug 1973;83(2):342-3. [Medline].

  23. 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. May 9 2000;97(10):5279-84. [Medline]. [Full Text].

  24. 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].

  25. Greally JM. Genomic imprinting and chromatin insulation in Beckwith-Wiedemann syndrome. Mol Biotechnol. Apr 1999;11(2):159-73. [Medline].

  26. Hatada I, Mukai T. Genomic imprinting and Beckwith-Wiedemann syndrome. Histol Histopathol. Jan 2000;15(1):309-12. [Medline].

  27. Kacker A, Honrado C, Martin D, Ward R. Tongue reduction in Beckwith-Weidemann syndrome. Int J Pediatr Otorhinolaryngol. 2000;53:1-7. [Medline].

  28. 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].

  29. 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. Dec 15 1994;8(24):2953-63. [Medline].

  30. 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. Sep 2005;11(9):631-40. [Medline].

  31. 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. Aug 1 1996;177(2):517-35. [Medline].

  32. Maher ER, Reik W. Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest. Feb 2000;105(3):247-52. [Medline]. [Full Text].

  33. Martin RA, Grange DK, Zehnbauer B. LIT1 and H19 methylation defects in isolated hemihyperplasia. Am J Med Genet A. 2005;134:129-131. [Medline].

  34. 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. Jan 2002;37(1):57-60. [Medline].

  35. Moore ES, Ward RE, Escobar LF, Carlin ME. Heterogeneity in Wiedemann-Beckwith syndrome: anthropometric evidence. Am J Med Genet. Feb 14 2000;90(4):283-90. [Medline].

  36. 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. Nov 11 1997;94(23):12509-14. [Medline]. [Full Text].

  37. NCBI. Beckwith-Wiedemann Syndrome. National Center for Biotechnology Information Site. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim. [Full Text].

  38. 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].

  39. Pfeifer K, Leighton PA, Tilghman SM. The structural H19 gene is required for transgene imprinting. Proc Natl Acad Sci U S A. Nov 26 1996;93(24):13876-83. [Medline]. [Full Text].

  40. Reeve AE. Role of genomic imprinting in Wilms' tumour and overgrowth disorders. Med Pediatr Oncol. Nov 1996;27(5):470-5. [Medline].

  41. 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. Sep 22 2000;275(38):29562-9. [Medline]. [Full Text].

  42. 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. Mar 15 2000;60(6):1521-5. [Medline]. [Full Text].

  43. Slatter RE, Elliott M, Welham K, et al. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet. Oct 1994;31(10):749-53. [Medline].

  44. 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. Mar 2000;66(3):841-7. [Medline]. [Full Text].

  45. Stanley CA, Baker L. The causes of neonatal hypoglycemia. N Engl J Med. Apr 15 1999;340(15):1200-1. [Medline].

  46. Stumm M, Tonnies H, Wieacker PF. Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease. Eur J Pediatr. Jul 1999;158(7):531-6. [Medline].

  47. 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].

  48. Wiedemann H. Complexe malformatif familial avec hernie ombilicale et macroglossie—un syndrome nouveau?. J Genet Hum. 1964;13:223.

  49. Winter SC, Curry CJ, Smith JC, et al. Prenatal diagnosis of the Beckwith-Wiedemann syndrome. Am J Med Genet. May 1986;24(1):137-41. [Medline].

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Gross nephrectomy specimen shows a Wilms tumor pushing the normal renal parenchyma to the side.
 
 
 
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