Abstract
Beckwith-Wiedemann syndrome (BWS) (OMIM 130650) is a disease of prenatal overgrowth, congenital malformations, and predisposition to cancer. The syndrome was independently described by J.B. Beckwith, an American pathologist, at the annual meeting of the Western Society for Pediatric Research in 1963 [1] and H.R. Wiedemann, a German pediatrician, in 1964 [2]. This disease was initially referred to as the EMG syndrome for its most prominent clinical features that distinguished the syndrome from other congenital malformations: exomphalos, macroglossia, and gigantism.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Beckwith JB (1963) Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig cell hyperplasia – another syndrome? Paper presented at annual meeting of the Western society for pediatric research, Los Angeles, Nov 11
Wiedemann HR (September 1964) Familial malformation complex with umbilical hernia and macroglossia – a “new syndrome?” (in French). J de génétique humaine 13:223–232
Beckwith JB (1998) Vignettes from the history of overgrowth and related syndromes. Am J Med Gen 79:238–248
Thorburn MJ et al (1970) Exomphalos-Macroglossia-Gigantism syndrome in Jamaican infants. Amer J Dis Child 119:316–321
DeBaun MR et al (2002) Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. American J Hum Genet 70(3):604–611
Elliott M et al (1994) Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin genet 46(2):168–174
Motokura T et al (1991) A novel cyclin encoded by a bcl1-linked candidate oncogene. Nature 350:512–515
Gerber LH et al (2000) Joint laxity, scoliosis and thoracic cage abnormalities in children with Beckwith-Wiedemann syndrome. European J Pediatr 160(2):143–144
Wiedemann HR (1983) Tumors and hemihypertrophy associated Wiedemann-Beckwith syndrome. Eur J Pediatr 141:129
Irving IM (1967) Exomphalos with macroglossia: a study of eleven cases. J Pediatr Surg 2(6):499–507
Weksberg R et al (2010) Beckwith-Wiedemann Syndrome. Eur J Hum Genet 18:8–14
Hoyme HE et al (1998) Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. Am J Med Genet 9:274–278
Martin RA et al (2005) Lit1 and H19 Methylation Defects in Isolated Hemihyperplasia. Am J of Med Genet 134A:129–131
Niemitz E et al (2005) Children with idiopathic hemihypertrophy and Beckwith-Wiedemann syndrome have different constitutional epigenotypes associated with Wilms tumor. Am J Hum Genet 77:887–891
Choyke PL et al (1998) Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. AJR 1711:733–737
Weksberg R et al (2005) Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 137C(1):12–23
Wangler M et al (2005) Inheritance pattern of Beckwith–Wiedemann syndrome is heterogeneous in 291 families with an affected proband. Am J Med Genet 137A:16–21
DeBaun M, Tucker MA (1998) Cancer during the first four years of life in children from the Beckwith Wiedemann Syndrome Registry. J Pediatr (132):398–400
Sotelo-Avila F et al (1980) Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. J Pediatr 96:47–50
Choyke PL et al (1999) Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy. Med Pediatr Oncol 32:196–200
McNeil DE et al (2001) Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a cost-effective model. Med Ped Oncol 37:349–356
Clericuzio C et al (2003) Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann Syndrome or Isolated hemihyperplasia. J Pediatr 143:270–272
Ortega JA et al (2000) Randomized comparison of cisplatin/vincristine/fluorouracil and cisplatin/continuous infusion doxorubicin for treatment of pediatric hepatoblastoma: a report from the Children’s Cancer Group and the Pediatric Oncology Group. J Clin Oncol 18:2665–2675
DeBaun M et al (1996) Screening for Wilms’ tumor in children with high-risk congenital syndromes: considerations for, an intervention trial. Med Pedia Oncol 27:15421
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2009 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
DeBaun, M., Horst, J. (2009). Beckwith–Wiedemann Syndrome. In: Hammer, G., Else, T. (eds) Adrenocortical Carcinoma. Springer, New York, NY. https://doi.org/10.1007/978-0-387-77236-3_14
Download citation
DOI: https://doi.org/10.1007/978-0-387-77236-3_14
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-77235-6
Online ISBN: 978-0-387-77236-3
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)