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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
Mussa A et al: Fetal growth patterns in Beckwith-Wiedemann syndrome. Clin Genet. ePub, 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
Ferianec V et al: Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation. J Matern Fetal Neonatal Med. 27(15):1607-9, 2014
Ibrahim A et al: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 6(1):11, 2014
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
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
Le Bouc Y et al: Epigenetics, genomic imprinting and assisted reproductive technology. Ann Endocrinol (Paris). 71(3):237-8, 2010
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
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
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
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
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
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
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
Porter A et al: Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele. Prenat Diagn. 29(7):668-73, 2009
Romanelli V et al: CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. Placenta. 30(6):551-4, 2009
Zarate YA et al: Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A. 149A(8):1691-7, 2009
Williams DH et al: Prenatal diagnosis of Beckwith-Wiedemann syndrome. Prenat Diagn. 25(10):879-84, 2005
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
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
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
Mussa A et al: Fetal growth patterns in Beckwith-Wiedemann syndrome. Clin Genet. ePub, 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
Ferianec V et al: Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation. J Matern Fetal Neonatal Med. 27(15):1607-9, 2014
Ibrahim A et al: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 6(1):11, 2014
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
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
Le Bouc Y et al: Epigenetics, genomic imprinting and assisted reproductive technology. Ann Endocrinol (Paris). 71(3):237-8, 2010
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
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
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
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
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
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
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
Porter A et al: Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele. Prenat Diagn. 29(7):668-73, 2009
Romanelli V et al: CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. Placenta. 30(6):551-4, 2009
Zarate YA et al: Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A. 149A(8):1691-7, 2009
Williams DH et al: Prenatal diagnosis of Beckwith-Wiedemann syndrome. Prenat Diagn. 25(10):879-84, 2005
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
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
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
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