Retrospective evaluation of 31 cases with Williams-Beuren syndrome Williams-Beuren sendromlu 31 olgunun retrospektif deǧerlendirilmesi

Purpose: Williams Beuren syndrome, is a genetic disorder which gets its characteristic features by aging. The aim of this study is to evaluate patients diagnosed WBS, and to share our experience. Material and Methods: Patients who diagnosed WBS were evaluated retrospectively. Systemic examination, echocardiographic and renal doppler findings, thyroid functions and genetic analysis results were collected from patient file, and statistical analyses were done. Results: 1996 to 2009, 31 patients (20 male), who were 1 month to 13 years old diagnosed WBS. Main reason for admission was murmur evaluation in 71%, and growth retardation in 16.1%. Genetic analyses were done on 23 patients and 7q11.23LSI.ELN deletion was positive in 73.9% patients. Analyses of cardiovascular examinations revealed; isolated peripheral pulmonary stenosis in 38.7%, isolated supravalvular aortic stenosis in 35.5% and both in 25.8%. Symptomatic seven patients with pulmonary stenosis and three patients with aortic stenosis applied balloon angioplasty. But three of them, which were not benefit from angioplasty, treated by surgically. In rest of the patients, stenosis did not worsen. Idiopathic hypercalcemia was evaluated in 10 patients, but not detected. Retinal arterial vascular tortiosity ratio was 82.6%. Two patients (8.7%) diagnosed hypothyroidism. Conclusion: In this study patients diagnosed WBS were evaluated, and results were discussed with literature