Olgu Sunumu
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Beckwith-Wiedemann Sendromu: Olgu Sunumu

Yıl 2021, Cilt: 13 Sayı: 1, 39 - 42, 30.04.2021
https://doi.org/10.35514/mtd.2021.45

Öz

Beckwith-Wiedemann Sendromu (BWS) birçok organ anomalilerinin birlikte olduğu nadir görülen konjenital aşırı büyüme sendromlarından biridir. Bu yazımızda, prenatal ultrasonografi görüntülemesinde omfalosel saptanan ve doğum sonrasında yapılan fizik muayenedeki bulgular ile Becwith-Wiedemann sendromu (BWS) tanısı konulan üç aylık erkek olgu sunulmaktadır. BWS tanısı alan olgular; solunum ve beslenme sıkıntısı, yenidoğan hipoglisemisi, malignite gelişimi açısından dikkatle takip edilmelidir ve ailelere genetik danışmanlık verilmelidir.

Kaynakça

  • 1. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2010;18(1):8-14. doi: 10.1038/ejhg.2009.106. PMID: 19550435; PMCID: PMC2987155.
  • 2. Beckwith JB. Extreme cytomegaly of the adrenal fetal cortex, hyperplasia of the kidneys and pancreas, and Leydig-cell hyperplasia: another syndrome? In: Annual Meeting of Western Society for Pediatric Research, Los Angeles, CA, November 1963.
  • 3. Wiedemann HR. Familial malformation complex with umbilical hernia and Macroglossia--a" new syndrome"? Journal de Génétique Humaine. 1964;13:223.
  • 4. 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(2):143-54. doi: 10.1007/BF00282078. PMID: 3770742.
  • 5. Mussa A, Russo S, De Crescenzo A, Chiesa N, Molinatto C, Selicorni A, et al. Prevalence of Beckwith-Wiedemann syndrome in North West of Italy. Am J Med Genet A. 2013;161A(10):2481-6. doi: 10.1002/ajmg.a.36080. Epub 2013 Aug 5. PMID: 23918458.
  • 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. doi: 10.1111/j.1399-0004.1994.tb04219.x. PMID: 7820926.
  • 7. Weng EY, Moeschler JB, Graham JM Jr. Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome. Am J Med Genet. 1995;56(4):366-73. doi: 10.1002/ajmg.1320560405. PMID: 7541608.
  • 8. DeBaun MR, King AA, White N. Hypoglycemia in Beckwith-Wiedemann syndrome. Semin Perinatol. 2000;24(2):164-71. doi: 10.1053/sp.2000.6366. PMID: 10805171.
  • 9. 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. doi: 10.1186/1868-7083-6-11. PMID: 24982696; PMCID: PMC4064264.
  • 10. Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, et al. Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet. 2003;40(1):62-4. doi: 10.1136/jmg.40.1.62. Erratum in: J Med Genet. 2003 Apr;40(4):304. PMID: 12525545; PMCID: PMC1735252.
  • 11. Everman DB, Shuman C, Dzolganovski B, O'riordan MA, Weksberg R, Robin NH. Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome. J Pediatr. 2000;137(1):123-7. doi: 10.1067/mpd.2000.106217. PMID: 10891834.

Beckwith-Wiedemann Syndrome: A Case Report

Yıl 2021, Cilt: 13 Sayı: 1, 39 - 42, 30.04.2021
https://doi.org/10.35514/mtd.2021.45

Öz

Beckwith-Wiedemann Syndrome (BWS) is one of the rare congenital overgrowth syndromes with many organ anomalies. In this article, we present a three-month-old male case diagnosed with Becwith-Wiedemann syndrome (BWS) with the findings of postpartum physical examination and omphalocele detected by prenatal ultrasonography. Cases diagnosed with BWS; should be followed carefully in terms of respiratory and nutritional distress, neonatal hypoglycemia and development of malignancy and genetic counseling should be given to families.

Kaynakça

  • 1. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2010;18(1):8-14. doi: 10.1038/ejhg.2009.106. PMID: 19550435; PMCID: PMC2987155.
  • 2. Beckwith JB. Extreme cytomegaly of the adrenal fetal cortex, hyperplasia of the kidneys and pancreas, and Leydig-cell hyperplasia: another syndrome? In: Annual Meeting of Western Society for Pediatric Research, Los Angeles, CA, November 1963.
  • 3. Wiedemann HR. Familial malformation complex with umbilical hernia and Macroglossia--a" new syndrome"? Journal de Génétique Humaine. 1964;13:223.
  • 4. 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(2):143-54. doi: 10.1007/BF00282078. PMID: 3770742.
  • 5. Mussa A, Russo S, De Crescenzo A, Chiesa N, Molinatto C, Selicorni A, et al. Prevalence of Beckwith-Wiedemann syndrome in North West of Italy. Am J Med Genet A. 2013;161A(10):2481-6. doi: 10.1002/ajmg.a.36080. Epub 2013 Aug 5. PMID: 23918458.
  • 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. doi: 10.1111/j.1399-0004.1994.tb04219.x. PMID: 7820926.
  • 7. Weng EY, Moeschler JB, Graham JM Jr. Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome. Am J Med Genet. 1995;56(4):366-73. doi: 10.1002/ajmg.1320560405. PMID: 7541608.
  • 8. DeBaun MR, King AA, White N. Hypoglycemia in Beckwith-Wiedemann syndrome. Semin Perinatol. 2000;24(2):164-71. doi: 10.1053/sp.2000.6366. PMID: 10805171.
  • 9. 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. doi: 10.1186/1868-7083-6-11. PMID: 24982696; PMCID: PMC4064264.
  • 10. Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, et al. Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet. 2003;40(1):62-4. doi: 10.1136/jmg.40.1.62. Erratum in: J Med Genet. 2003 Apr;40(4):304. PMID: 12525545; PMCID: PMC1735252.
  • 11. Everman DB, Shuman C, Dzolganovski B, O'riordan MA, Weksberg R, Robin NH. Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome. J Pediatr. 2000;137(1):123-7. doi: 10.1067/mpd.2000.106217. PMID: 10891834.
Toplam 11 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Klinik Tıp Bilimleri
Bölüm Olgu Sunumu
Yazarlar

Büşra Özoğlu 0000-0002-6927-4945

Erkut Etçioğlu 0000-0002-8117-7929

Deniz Şerife Cebeci 0000-0002-7394-0306

Yayımlanma Tarihi 30 Nisan 2021
Gönderilme Tarihi 17 Mart 2021
Yayımlandığı Sayı Yıl 2021 Cilt: 13 Sayı: 1

Kaynak Göster

Vancouver Özoğlu B, Etçioğlu E, Cebeci DŞ. Beckwith-Wiedemann Sendromu: Olgu Sunumu. Maltepe tıp derg. 2021;13(1):39-42.