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
Abbasi N et al: Prenatally diagnosed omphaloceles: report of 92 cases and association with Beckwith-Wiedemann syndrome. Prenat Diagn. ePub, 2021
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
Duffy KA et al: Beckwith-Wiedemann syndrome in diverse populations. Am J Med Genet A. 179(4):525-33, 2019
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
Shieh HF et al: Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. Prenat Diagn. 39(9):792-5, 2019
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
Gaillot-Durand L et al: Placental pathology in Beckwith-Wiedemann syndrome according to genotype/epigenotype subgroups. Fetal Pediatr Pathol. 37(6):387-99, 2018
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
Mussa A et al: Fetal growth patterns in Beckwith-Wiedemann syndrome. Clin Genet. 90(1):21-7, 2016
Kagan KO et al: Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn. 35(4):394-9, 2015
Paganini L et al: Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. Epigenetics. 10(7):643-9, 2015
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
Ibrahim A et al: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 6(1):11, 2014
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
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
Biliya S et al: Genomic imprinting: the influence of differential methylation in the two sexes. Exp Biol Med (Maywood). 235(2):139-47, 2010
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
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
Choufani S et al: Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 154C(3):343-54, 2010
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
Hirasawa R et al: Genomic imprinting and human disease. Essays Biochem. 48(1):187-200, 2010
Oh-McGinnis R et al: Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. BMC Dev Biol. 10:50, 2010
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
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KEY FACTS
Terminology
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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
Abbasi N et al: Prenatally diagnosed omphaloceles: report of 92 cases and association with Beckwith-Wiedemann syndrome. Prenat Diagn. ePub, 2021
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
Duffy KA et al: Beckwith-Wiedemann syndrome in diverse populations. Am J Med Genet A. 179(4):525-33, 2019
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
Shieh HF et al: Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. Prenat Diagn. 39(9):792-5, 2019
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
Gaillot-Durand L et al: Placental pathology in Beckwith-Wiedemann syndrome according to genotype/epigenotype subgroups. Fetal Pediatr Pathol. 37(6):387-99, 2018
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
Mussa A et al: Fetal growth patterns in Beckwith-Wiedemann syndrome. Clin Genet. 90(1):21-7, 2016
Kagan KO et al: Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn. 35(4):394-9, 2015
Paganini L et al: Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. Epigenetics. 10(7):643-9, 2015
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
Ibrahim A et al: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 6(1):11, 2014
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
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
Biliya S et al: Genomic imprinting: the influence of differential methylation in the two sexes. Exp Biol Med (Maywood). 235(2):139-47, 2010
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
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
Choufani S et al: Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 154C(3):343-54, 2010
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
Hirasawa R et al: Genomic imprinting and human disease. Essays Biochem. 48(1):187-200, 2010
Oh-McGinnis R et al: Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. BMC Dev Biol. 10:50, 2010
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
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