Cardiac anomalies in Williams-Beuren syndrome.
نویسندگان
چکیده
منابع مشابه
Cardiac anomalies in Williams-Beuren syndrome.
We have described some of the cardiological findings in 66 patients with Williams-Beuren syndrome and analysed the two dimensional cross sectional echocardiograms in 61 of them in comparison with normal controls. Supravalvar aortic narrowing was shown in all patients examined echocardiographically and may be a useful diagnostic sign. We documented a 7.8% incidence of systemic hypertension, a 15...
متن کاملWilliams-Beuren syndrome.
Copyright © 2010 Massachusetts Medical Society. Williams–Beuren syndrome (also known as Williams’ syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multi system disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes. Exactly how gene loss leads to the characteristic ph...
متن کاملAutistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype
BACKGROUND Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expressio...
متن کاملCeliac disease in Williams-Beuren syndrome.
Celiac disease was previously reported to be frequent among individuals with Williams-Beuren syndrome; however, this suggestion was not investigated further. The present study was conducted to estimate the prevalence of celiac disease in a group of Turkish individuals with Williams-Beuren syndrome (n=33, age range: 1-24 years) by using anti-tissue transglutaminase immunoglobulin (Ig)A and IgG, ...
متن کاملSaccade adaptation in Williams-Beuren Syndrome.
PURPOSE To investigate the capacity for rapid saccade adaptation in Williams-Beuren Syndrome (WBS), a genetic neurodevelopmental disorder, in which it has been observed that saccadic accuracy is severely reduced. METHODS Saccade amplitude modification was elicited by backward steps (30% of target eccentricity) during the primary saccade in a classic saccade-adaptation paradigm. RESULTS Pati...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1988
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.63.7.809