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Boletín Médico del Hospital Infantil de México

2013, Number 2

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Bol Med Hosp Infant Mex 2013; 70 (2)

Clinical profile of a patient cohort with Beckwith-Wiedemann syndrome treated at the Hospital Infantil de México Federico Gómez (2007–2012)

Moreno-Salgado R, García-Delgado C, Cervantes-Peredo A, García-Morales L, Martínez-Barrera LE, Peñaloza-Espinosa R, Morán-Barroso VF

Language: Spanish
References: 18
Page: 166-173
PDF size: 417.25 Kb.


ABSTRACT

Background. Beckwith-Wiedemann syndrome (BWS) (OMIM 130650) has an incidence of 1:13,700 newborns. Patients characteristically suffer from overgrowth, macroglossia and abdominal wall defects. BWS has diverse etiologies with several genetic and epigenetic mechanisms related to imprinted gene expression in 11p15 being involved.
Methods. The clinical profile of a cohort of BWS patients treated at the Hospital Infantil de Mexico Federico Gomez during the last 6 years was analyzed. A total of 19 patients with diagnostic criteria for BWS were included.
Results. Among the clinical characteristics identified in this study were preterm birth (33%), nevus flammeus (47%), macroglossia (89%), medial facial hypoplasia (68%), hemihyperplasia (36.8%) and abdominal wall defects (68%). No embryonic tumor or cardiopathies were identified. A familiar case was described.
Conclusions. Clinical follow-up of BWS patients should be strict and include the participation of the medical team and the patient’s family. In order to offer genetic counseling, molecular diagnosis should ideally be provided due to the heterogeneity of the etiology of BWS.


REFERENCES

  1. Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2010;154C:343-354.

  2. Weksberg R, Shuman C. Beckwith-Wiedemann Syndrome and Hemihyperplasia. En: Cassidy SB, Allison JE, eds. Managment of Genetic Syndromes. New Jersey: John Wiley & Sons; 2005. pp. 101-114.

  3. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010;18:8-14.

  4. Hennekam R, Allanson J, Krantz I. Gorlin’s Syndromes of the Head and Neck. USA: Oxford University Press; 2010. pp. 471-475.

  5. Shuman C, Beckwith JC, Smith AC, Weksberg R. Beckwith-Wiedemann Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2000. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK1394/

  6. Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, Fraga M, et al. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. Eur J Hum Genet 2011;19:416-421.

  7. Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005;8:287-304.

  8. Esteller M. Epigenetics in cancer. N Engl J Med 2008;358:1148-1159.

  9. Cedar H, Bergman Y. Linking DNA methylation and histone modification: patterns and paradigms. Nat Rev Genet 2009;10:295-304.

  10. Yamazawa K, Ogata T, Ferguson-Smith AC. Uniparental disomy and human disease: an overview. Am J Med Genet C Semin Med Genet 2010;154C:329-334.

  11. Horsthemke B. Mechanisms of imprint dysregulation. Am J Med Genet C Semin Med Genet 2010;154C:321-328.

  12. Butler MG. Genomic imprinting disorders in humans: a mini-review. J Assist Reprod Genet 2009;26:477-486.

  13. Esteller M. Cancer epigenomics: DNA methylomes and histone-modification maps. Nat Rev Genet 2007;8:286-298.

  14. Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, et al. Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation. Am J Med Genet A 2012;158A:1662-1669.

  15. Boonen S, Hahnemann J, Mackay D, Tommerup N, Brøndum-Nielsen K, Tümer Z, et al. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2012;20: 119-121.

  16. Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, et al. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. Hum Mol Genet 2012;21:10-25.

  17. Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, et al. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms’ tumour. Hum Mol Genet 2007;16:254-264.

  18. Eroglu A, Layman LC. Role of ART in imprinting disorders. Semin Reprod Med 2012;30:92-104.




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