{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:25:38Z","timestamp":1756383938206},"reference-count":25,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3\/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome.<jats:italic>Conclusion<\/jats:italic>. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.<\/jats:p>","DOI":"10.1155\/2012\/585726","type":"journal-article","created":{"date-parts":[[2012,8,13]],"date-time":"2012-08-13T17:21:26Z","timestamp":1344878486000},"page":"1-4","source":"Crossref","is-referenced-by-count":3,"title":["Williams-Beuren's Syndrome: A Case Report"],"prefix":"10.1155","volume":"2012","author":[{"given":"Hassan","family":"Zamani","sequence":"first","affiliation":[{"name":"Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Mazandaran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazem","family":"Babazadeh","sequence":"additional","affiliation":[{"name":"Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Mazandaran, 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