Bzdúch V, Janisová M, Beránková M, Masura J
I. detská klinika Detskej fakultnej nemocnice, Bratislava.
Cas Lek Cesk. 1990 Sep 28;129(39):1235-8.
In a girl with Williams-Beuren's syndrome psychological examination revealed mental retardation with a special mental profile, angiography revealed peripheral pulmonary stenoses, echocardiography a slight stenosis in the supravalvular aortal area and anthropometry typical facial signs. Indirect signs of hypercalcaemia were clinical signs of poor progress during infancy. The authors emphasize that accurate analysis of basic clinical signs and the natural development of the disease are the key to its diagnosis.
在一名患有威廉姆斯-贝伦综合征的女孩身上,心理检查显示存在智力障碍且具有特殊的心理特征,血管造影显示外周肺动脉狭窄,超声心动图显示主动脉瓣上区域有轻度狭窄,人体测量显示有典型的面部体征。婴儿期病情进展不佳的临床体征是高钙血症的间接迹象。作者强调,对基本临床体征和疾病自然发展进行准确分析是诊断该病的关键。