maltepe tıp derg. Maltepe Tıp Dergisi 2602-2915 Maltepe Üniversitesi 10.35514/mtd.2021.45 Clinical Sciences Klinik Tıp Bilimleri Beckwith-Wiedemann Sendromu: Olgu Sunumu Beckwith-Wiedemann Syndrome: A Case Report https://orcid.org/0000-0002-6927-4945 Özoğlu Büşra Gümüşhane İlçe Devlet Hastanesi, Aile Hekimliği Kliniği https://orcid.org/0000-0002-8117-7929 Etçioğlu Erkut OSMANELİ M.S.Ç DEVLET HASTANESİ AİLE HEKİMLİĞİ KLİNİĞİ https://orcid.org/0000-0002-7394-0306 Cebeci Deniz Şerife AKDENİZ ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, AİLE HEKİMLİĞİ ANABİLİM DALI 04 30 2021 13 1 39 42 03 17 2021 04 09 2021 Copyright © 2009, Maltepe Tıp Dergisi 2009 Maltepe Tıp Dergisi

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.

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.

 Beckwith-Wiedemann Sendromu Omfalosel Makroglossi Beckwith-Wiedemann Syndrome Omphalocele Macroglossia 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.