Abstract
Williams-Beuren syndrome WBS is a rare disease that occurs as a result of microdeletion of 11.23 of the long arm of chromosome 7, with a frequency of 1/20.000-30.000. Typical facial appearance, mental retardation, various congenital cardiovascular anomalies and endocrinological disorders may accompany this syndrome. In cases suspected as a result of clinical and laboratory findings, the diagnosis is made by showing the deletion of the mentioned region using the fluorescent in situ hybridization FISH method. We detected WBS in a 17-month-old male patient who presented with chronic constipation and had peripheral pulmonary stenosis in echocardiography performed with accompanying clinical findings, and aimed to emphasize the importance of multidimensional evaluation and early diagnosis.
Keywords
Congenital heart disease pulmonary stenosis microdeletion syndromes constipation Williams-Beuren syndrome
References
- Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961;24:1311-8.
- Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosýs, mental retardation and similar facial appearance. Am J Cardiol 1964;13:471-483.
- Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams Syndrome. Pediatr 2001;107:1192- 1204.
- Pober BR. Williams–Beuren Syndrome. N Engl J Med. 2010 Jan 21;362 3 :239- 52.
- Sforzini C, Milani D, Fossali E, Barbato A, Grumieri G, et al. Bianchetti MG, Selicorni A. Renal tract ultrasonography and calcium homeostasis in Williams- Beuren syndrome. Pediatr Nephrol. 2002;17:899-902.
- Viana MM, Frasson M, Galvão H, Leão LL, Stofanko M, Gonçalves- Dornelas H, et all. Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome. Ophthalmic Genet. 2015;36:234-8.
- Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet. 200239:554-8.
- Hennekam RCM, Krantz ID, Allanson JE. Gorlin’s syndromes of the head and neck, Oxford University press. New York, USA, fifth ed., 2010; pp 1143-1151.
- Morris CA. Williams syndrome. In:Cassidy SB, Allanson JE eds . Management of Genetic Syndromes. John Wiley & Sons. New Jersey, USA, 2nd ed., 2005; pp 655-665.
Abstract
Williams-Beuren sendromu WBS 7. kromozomun uzun kolunun 11.23 bölgesinin mikrodelesyonu sonucu oluşan, 1/20,000-30,000 sıklığında görülen nadir bir hastalıktır. Tipik yüz görünümü, mental retardasyon, çeşitli konjenital kalp-damar anomalileri ve endokrinolojik bozukluklar bu sendroma eşlik edebilmektedir. Klinik ve laboratuvar bulguları sonucu şüphelenilen vakalarda tanı floresan in situ hibridizasyon FISH yöntemi kullanılarak bahsedilen bölgenin delesyonunun gösterilmesiyle konur. Biz kronik kabızlık yakınmasıyla tarafımıza başvuran ve eşlik eden klinik bulgularla birlikte yapılan ekokardiyografide periferik pulmoner stenoz saptanan 17 aylık erkek hastada WBS tespit ettik, çok yönlü değerlendirme ve erken tanının öneminin vurgulanmasını amaçladık.
Keywords
Konjenital kalp hastalığı pulmoner stenoz mikrodelesyon sendromları kabızlık Williams- Beuren sendromu
References
- Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961;24:1311-8.
- Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosýs, mental retardation and similar facial appearance. Am J Cardiol 1964;13:471-483.
- Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams Syndrome. Pediatr 2001;107:1192- 1204.
- Pober BR. Williams–Beuren Syndrome. N Engl J Med. 2010 Jan 21;362 3 :239- 52.
- Sforzini C, Milani D, Fossali E, Barbato A, Grumieri G, et al. Bianchetti MG, Selicorni A. Renal tract ultrasonography and calcium homeostasis in Williams- Beuren syndrome. Pediatr Nephrol. 2002;17:899-902.
- Viana MM, Frasson M, Galvão H, Leão LL, Stofanko M, Gonçalves- Dornelas H, et all. Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome. Ophthalmic Genet. 2015;36:234-8.
- Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet. 200239:554-8.
- Hennekam RCM, Krantz ID, Allanson JE. Gorlin’s syndromes of the head and neck, Oxford University press. New York, USA, fifth ed., 2010; pp 1143-1151.
- Morris CA. Williams syndrome. In:Cassidy SB, Allanson JE eds . Management of Genetic Syndromes. John Wiley & Sons. New Jersey, USA, 2nd ed., 2005; pp 655-665.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | August 25, 2021 |
| Published in Issue | Year 2021 Volume: 2 Issue: 2 |