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Beckwith-Wiedemann Syndrome
Paula J. Woodward, MD; Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Beckwith-Wiedemann syndrome (BWS)
            • Synonyms

              • Wiedemann-Beckwith syndrome
            • Definitions

              • Imprinting disorder characterized by macrosomia, hemihyperplasia, macroglossia, ventral wall defects, predisposition to embryonal tumors, and neonatal hypoglycemia

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Microscopic Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Mussa A et al: Fetal growth patterns in Beckwith-Wiedemann syndrome. Clin Genet. ePub, 2016
                                    2. Kagan KO et al: Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn. 35(4):394-9, 2015
                                    3. Paganini L et al: Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. Epigenetics. 10(7):643-9, 2015
                                    4. Pappas JG: The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome. Curr Probl Pediatr Adolesc Health Care. 45(4):112-7, 2015
                                    5. Ferianec V et al: Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation. J Matern Fetal Neonatal Med. 27(15):1607-9, 2014
                                    6. Ibrahim A et al: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 6(1):11, 2014
                                    7. Milani D et al: Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. Appl Clin Genet. 7:169-75, 2014
                                    8. Armes JE et al: The placenta in Beckwith-Wiedemann syndrome: genotype-phenotype associations, excessive extravillous trophoblast and placental mesenchymal dysplasia. Pathology. 44(6):519-27, 2012
                                    9. Azzi S et al: Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases. Epigenetics. 5(5), 2010
                                    10. Biliya S et al: Genomic imprinting: the influence of differential methylation in the two sexes. Exp Biol Med (Maywood). 235(2):139-47, 2010
                                    11. Bourque DK et al: The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders. Clin Genet. 79(2):169-75, 2010
                                    12. Cardarelli L et al: Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family. Pediatr Dev Pathol. 13(4):326-30, 2010
                                    13. Choufani S et al: Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 154C(3):343-54, 2010
                                    14. Demars J et al: Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet. 19(5):803-14, 2010
                                    15. Hirasawa R et al: Genomic imprinting and human disease. Essays Biochem. 48(1):187-200, 2010
                                    16. Le Bouc Y et al: Epigenetics, genomic imprinting and assisted reproductive technology. Ann Endocrinol (Paris). 71(3):237-8, 2010
                                    17. Lennerz JK et al: Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield. J Mol Diagn. 12(5):576-88, 2010
                                    18. Oh-McGinnis R et al: Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. BMC Dev Biol. 10:50, 2010
                                    19. Romanelli V et al: CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A. 152A(6):1390-7, 2010
                                    20. Strawn EY Jr et al: Is it the patient or the IVF? Beckwith-Wiedemann syndrome in both spontaneous and assisted reproductive conceptions. Fertil Steril. 94(2):754, 2010
                                    21. Tierling S et al: Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human. J Med Genet. 47(6):371-6, 2010
                                    22. Tierling S et al: DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome. Clin Genet. Epub ahead of print, 2010
                                    23. Zollino M et al: A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. J Med Genet. 47(6):429-32, 2010
                                    24. Azzi S et al: Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet. 18(24):4724-33, 2009
                                    25. Porter A et al: Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele. Prenat Diagn. 29(7):668-73, 2009
                                    26. Romanelli V et al: CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. Placenta. 30(6):551-4, 2009
                                    27. Zarate YA et al: Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A. 149A(8):1691-7, 2009
                                    28. Williams DH et al: Prenatal diagnosis of Beckwith-Wiedemann syndrome. Prenat Diagn. 25(10):879-84, 2005
                                    29. Bliek J et al: Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS). J Pediatr. 145(6):796-9, 2004
                                    30. Murrell A et al: An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. Hum Mol Genet. 13(2):247-55, 2004
                                    31. Weksberg R et al: Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet. 12 Spec No 1:R61-8, 2003
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Pathology

                                            • Clinical Issues

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Beckwith-Wiedemann syndrome (BWS)
                                              • Synonyms

                                                • Wiedemann-Beckwith syndrome
                                              • Definitions

                                                • Imprinting disorder characterized by macrosomia, hemihyperplasia, macroglossia, ventral wall defects, predisposition to embryonal tumors, and neonatal hypoglycemia

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Staging, Grading, & Classification

                                                          • Microscopic Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Demographics

                                                                • Natural History & Prognosis

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Mussa A et al: Fetal growth patterns in Beckwith-Wiedemann syndrome. Clin Genet. ePub, 2016
                                                                      2. Kagan KO et al: Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn. 35(4):394-9, 2015
                                                                      3. Paganini L et al: Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. Epigenetics. 10(7):643-9, 2015
                                                                      4. Pappas JG: The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome. Curr Probl Pediatr Adolesc Health Care. 45(4):112-7, 2015
                                                                      5. Ferianec V et al: Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation. J Matern Fetal Neonatal Med. 27(15):1607-9, 2014
                                                                      6. Ibrahim A et al: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 6(1):11, 2014
                                                                      7. Milani D et al: Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. Appl Clin Genet. 7:169-75, 2014
                                                                      8. Armes JE et al: The placenta in Beckwith-Wiedemann syndrome: genotype-phenotype associations, excessive extravillous trophoblast and placental mesenchymal dysplasia. Pathology. 44(6):519-27, 2012
                                                                      9. Azzi S et al: Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases. Epigenetics. 5(5), 2010
                                                                      10. Biliya S et al: Genomic imprinting: the influence of differential methylation in the two sexes. Exp Biol Med (Maywood). 235(2):139-47, 2010
                                                                      11. Bourque DK et al: The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders. Clin Genet. 79(2):169-75, 2010
                                                                      12. Cardarelli L et al: Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family. Pediatr Dev Pathol. 13(4):326-30, 2010
                                                                      13. Choufani S et al: Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 154C(3):343-54, 2010
                                                                      14. Demars J et al: Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet. 19(5):803-14, 2010
                                                                      15. Hirasawa R et al: Genomic imprinting and human disease. Essays Biochem. 48(1):187-200, 2010
                                                                      16. Le Bouc Y et al: Epigenetics, genomic imprinting and assisted reproductive technology. Ann Endocrinol (Paris). 71(3):237-8, 2010
                                                                      17. Lennerz JK et al: Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield. J Mol Diagn. 12(5):576-88, 2010
                                                                      18. Oh-McGinnis R et al: Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. BMC Dev Biol. 10:50, 2010
                                                                      19. Romanelli V et al: CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A. 152A(6):1390-7, 2010
                                                                      20. Strawn EY Jr et al: Is it the patient or the IVF? Beckwith-Wiedemann syndrome in both spontaneous and assisted reproductive conceptions. Fertil Steril. 94(2):754, 2010
                                                                      21. Tierling S et al: Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human. J Med Genet. 47(6):371-6, 2010
                                                                      22. Tierling S et al: DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome. Clin Genet. Epub ahead of print, 2010
                                                                      23. Zollino M et al: A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. J Med Genet. 47(6):429-32, 2010
                                                                      24. Azzi S et al: Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet. 18(24):4724-33, 2009
                                                                      25. Porter A et al: Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele. Prenat Diagn. 29(7):668-73, 2009
                                                                      26. Romanelli V et al: CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. Placenta. 30(6):551-4, 2009
                                                                      27. Zarate YA et al: Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A. 149A(8):1691-7, 2009
                                                                      28. Williams DH et al: Prenatal diagnosis of Beckwith-Wiedemann syndrome. Prenat Diagn. 25(10):879-84, 2005
                                                                      29. Bliek J et al: Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS). J Pediatr. 145(6):796-9, 2004
                                                                      30. Murrell A et al: An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. Hum Mol Genet. 13(2):247-55, 2004
                                                                      31. Weksberg R et al: Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet. 12 Spec No 1:R61-8, 2003