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Beckwith-Wiedemann Syndrome
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. Abbasi N et al: Prenatally diagnosed omphaloceles: report of 92 cases and association with Beckwith-Wiedemann syndrome. Prenat Diagn. ePub, 2021
                                    2. Duffy KA et al: Characterization of the Beckwith-Wiedemann spectrum: diagnosis and management. Am J Med Genet C Semin Med Genet. 181(4):693-708, 2019
                                    3. Duffy KA et al: Beckwith-Wiedemann syndrome in diverse populations. Am J Med Genet A. 179(4):525-33, 2019
                                    4. Gazzin A et al: Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. Am J Med Genet A. 179(9):1691-702, 2019
                                    5. Shieh HF et al: Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. Prenat Diagn. 39(9):792-5, 2019
                                    6. Brioude F et al: Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol. 14(4):229-49, 2018
                                    7. Gaillot-Durand L et al: Placental pathology in Beckwith-Wiedemann syndrome according to genotype/epigenotype subgroups. Fetal Pediatr Pathol. 37(6):387-99, 2018
                                    8. Johnson JP et al: Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome. J Assist Reprod Genet. 35(6):985-92, 2018
                                    9. Mussa A et al: Fetal growth patterns in Beckwith-Wiedemann syndrome. Clin Genet. 90(1):21-7, 2016
                                    10. Kagan KO et al: Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn. 35(4):394-9, 2015
                                    11. Paganini L et al: Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. Epigenetics. 10(7):643-9, 2015
                                    12. 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
                                    13. Ibrahim A et al: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 6(1):11, 2014
                                    14. 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
                                    15. 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
                                    16. Biliya S et al: Genomic imprinting: the influence of differential methylation in the two sexes. Exp Biol Med (Maywood). 235(2):139-47, 2010
                                    17. 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
                                    18. 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
                                    19. Choufani S et al: Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 154C(3):343-54, 2010
                                    20. 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
                                    21. Hirasawa R et al: Genomic imprinting and human disease. Essays Biochem. 48(1):187-200, 2010
                                    22. Oh-McGinnis R et al: Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. BMC Dev Biol. 10:50, 2010
                                    23. 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
                                    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. Abbasi N et al: Prenatally diagnosed omphaloceles: report of 92 cases and association with Beckwith-Wiedemann syndrome. Prenat Diagn. ePub, 2021
                                                                      2. Duffy KA et al: Characterization of the Beckwith-Wiedemann spectrum: diagnosis and management. Am J Med Genet C Semin Med Genet. 181(4):693-708, 2019
                                                                      3. Duffy KA et al: Beckwith-Wiedemann syndrome in diverse populations. Am J Med Genet A. 179(4):525-33, 2019
                                                                      4. Gazzin A et al: Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. Am J Med Genet A. 179(9):1691-702, 2019
                                                                      5. Shieh HF et al: Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. Prenat Diagn. 39(9):792-5, 2019
                                                                      6. Brioude F et al: Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol. 14(4):229-49, 2018
                                                                      7. Gaillot-Durand L et al: Placental pathology in Beckwith-Wiedemann syndrome according to genotype/epigenotype subgroups. Fetal Pediatr Pathol. 37(6):387-99, 2018
                                                                      8. Johnson JP et al: Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome. J Assist Reprod Genet. 35(6):985-92, 2018
                                                                      9. Mussa A et al: Fetal growth patterns in Beckwith-Wiedemann syndrome. Clin Genet. 90(1):21-7, 2016
                                                                      10. Kagan KO et al: Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn. 35(4):394-9, 2015
                                                                      11. Paganini L et al: Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. Epigenetics. 10(7):643-9, 2015
                                                                      12. 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
                                                                      13. Ibrahim A et al: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 6(1):11, 2014
                                                                      14. 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
                                                                      15. 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
                                                                      16. Biliya S et al: Genomic imprinting: the influence of differential methylation in the two sexes. Exp Biol Med (Maywood). 235(2):139-47, 2010
                                                                      17. 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
                                                                      18. 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
                                                                      19. Choufani S et al: Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 154C(3):343-54, 2010
                                                                      20. 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
                                                                      21. Hirasawa R et al: Genomic imprinting and human disease. Essays Biochem. 48(1):187-200, 2010
                                                                      22. Oh-McGinnis R et al: Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. BMC Dev Biol. 10:50, 2010
                                                                      23. 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