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A Child with Hemihypertrophy, Omphalocele, and Organomegaly

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Challenging Cases in Dermatology Volume 2

Abstract

A male child presented with combined features of neonatal hypoglycemia, omphalocele, hemihyperplasia, macroglossia, ear pits, and organomegaly. His diagnosis represented a complex disorder both phenotypically and genetically.

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Bibliography

  1. Beckwith JB. Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects. 1969;5:188–96.

    Google Scholar 

  2. Brioude F, Lacoste A, Netchine I, Vazquez MP, Auber F, Audry G, et al. Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to the molecular mechanism, and guidelines for tumor surveillance. Horm Res Paediatr. 2013;80(6):457–65.

    Article  CAS  PubMed  Google Scholar 

  3. Cohen MM Jr. A comprehensive and critical assessment of overgrowth and overgrowth syndromes. Adv Hum Genet. 1989;18:181–303.

    Article  PubMed  Google Scholar 

  4. Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, et al. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2005;13(9):1025–32.

    Article  CAS  PubMed  Google Scholar 

  5. DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann syndrome registry. J Pediatr. 1998;132(3 Pt 1):398–400.

    Article  CAS  PubMed  Google Scholar 

  6. Elliott M, Bayly R, Cole T, Temple IK, Maher ER. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet. 1994;46(2):168–74.

    Article  CAS  PubMed  Google Scholar 

  7. Engstrom W, Lindham S, Schofield P. Wiedemann–Beckwith syndrome. Eur J Pediatri. 1988;147:450–7.

    Article  CAS  Google Scholar 

  8. Ibrahim A, Kirby G, Hardy C, Dias RP, Tee L, Lim D, et al. Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 2014;6(1):11.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Kalish JM, Deardorff MA. Tumor screening in Beckwith-Wiedemann syndrome-to screen or not to screen? Am J Med Genet A. 2016;170(9):2261–4.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Maas SM, Vansenne F, Kadouch DJ, Ibrahim A, Bliek J, Hopman S, et al. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. Am J Med Genet A. 2016;170(9):2248–60.

    Article  CAS  PubMed  Google Scholar 

  11. Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, et al. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2016a;24(2):183–90.

    Article  CAS  PubMed  Google Scholar 

  12. Mussa A, Di Candia S, Russo S, Catania S, De Pellegrin M, Di Luzio L, et al. Recommendations of the scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. Eur J Med Genet. 2016b;59(1):52–64.

    Article  PubMed  Google Scholar 

  13. Mussa A, Molinatto C, Cerrato F, Palumbo O, Carella M, Baldassarre G, et al. Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome. Pediatrics. 2017;140(1):e20164311.

    Article  PubMed  Google Scholar 

  14. Pettenati MJ, Haines JL, Higgins RR, Wappner RS, Palmer CG, Weaver DD. Wiedemann–Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet. 1986;74:143–54.

    Article  CAS  PubMed  Google Scholar 

  15. Sotelo-Avela C, Gonzalez-Crussi F, Starling KA. Complete and incomplete forms of Beckwith Weidemann syndrome: their oncogenic potential. J Pediatr. 1980;96:47–50.

    Article  Google Scholar 

  16. Tan TY, Amor DJ. Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. J Paed Child Health. 2006;42:486–90.

    Article  Google Scholar 

  17. Vanderver A, Pearl PL. Beckwith-Wiedemann syndrome. In: NORD guide to rare disorders. Philadelphia: Lippincott Williams & Wilkins; 2003. p. 518.

    Google Scholar 

  18. Weidemann HR. Tumour and hemihypertrophy associated with Weidemann Beckwith syndrome. Eur J Pediatr. 1983;141:129.

    Article  Google Scholar 

  19. Weksberg R, Smith AC, Squire J, Sadowski P. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet. 2003;12 Spec No 1:R61-8.

    PubMed  Google Scholar 

  20. Weng BY, Mortier GR, Graham JM Jr. Beckwith Weidemann syndrome – an overview for the primary paediatrician. Clin Pediatr. 1995;34(6):317–26.

    Article  CAS  Google Scholar 

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El-Darouti, M.A., Al-Ali, F.M. (2019). A Child with Hemihypertrophy, Omphalocele, and Organomegaly. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_10

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  • DOI: https://doi.org/10.1007/978-3-030-21855-3_10

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-21854-6

  • Online ISBN: 978-3-030-21855-3

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