Beckwith-Wiedemann sendromu: Bir olgu sunumu
Bu yazıda hemihipertrofi, makroglossi, visseromegali, makrozomi ve kulak anomalisi olan ve bu bulgularla Beckwith-Wiedemann sendromu (BWS) tanısı alan iki aylık kız olgu sunuldu. Bu sunumun amacı, hemihipertrofi, makroglossi ve umblical hernili olgularda, nadir görülen bir sendrom olan BWS' nin de hatırlanması gerektiğini vurgulamaktır.
Beckwith-Wiedemann syndrome: Case report
A case of Beckwith-Wiedemann Syndrome is presented here in a two-month-old female with macroglossia, macrosomia, visseromegalia, anomaly of ear, umbilical hernia, and characteristically hemihypertrophy. Radiological finding included increased cardiothrosic ratio. ECO was normal. The aim of this presentation is to emphasize the need of being kept in mind BWS which is rarely seen in patients with umbilical hernia hemihypertrophy and macroglossia
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- 1. Nelson Text Book of Pediatrics 15th. Edition at by Berhman RE, KliegmanRM, Arvin AM. WB. Saunders Company, Philadelphia, p.p.1427,1996.
- 2. Moore ES, Ward RE, Escobar LF, Carlin ME. Heterogeneity in Wiedemann-Beckwith Syndrome: antropometric evidence. Am J Med Genet 2000; 90:283-290
- 3. Best LG, Hoekstra RE. Wiedemann-Beckwith Syndrome:Autosomal-dominant inheritance in a family. Am J Med Genet 1981; 9:291-299
- 4. Ben-Galim E, Gross-Kieselstein E, Abrahamov A. Beckwith-Wiedemannn Syndrome in a mother and her son. Am J Dis Child 1977; 131: 801-803
- 5. Wiedemann HR. A new syndrome with hypoglicemia. Monatsschr Kinderheilkd 1969; 117:239-242
- 6. Greenwood RD, Somer A, Rosenthal A et all. Cardiovascular abnormalities in the Beckwith-Wiedemann Syndrome. Am J Dis Child 1977; 131: 293-294
- 7. Everman DB, Shuman C, Dzolganovski B et all. Serum alpha-fetoprotein levels in Beckwith-Wiedemann Syndrome. J Pediatr 2000; 137:123-127
- 8. Lemke J, Meinecke P, Frank HD, Monatsschr Kinderheilkd, 1986..134:554-557
- 9. Balcı S, Tınaztepe K. Beckwith- Wiedemann Sendromu (Exomphalos-Macroglossia-Gigantism (EMG) Sendromlu iki vakanın post-mortem bulguları). Çocuk Sağl ve Hast Derg, 1978; 21:102-112