Semmekrot B A, Rotteveel J J, Bakker-Niezen S H, Logt F
Pediatr Neurosci. 1985;12(3):188-91. doi: 10.1159/000120245.
The Williams elfin facies syndrome (Williams-Beuren syndrome) is a disorder characterized by a typical facies, supravalvular aortic stenosis and mental retardation. Its coexistence with a brain tumor has, so far, never been described. Recently, we treated a patient who was previously diagnosed as having Williams syndrome for a cerebral astrocytoma. In view of the incidence of astrocytomas in children and the occurrence of Williams syndrome, we want to report this coincidence.
威廉姆斯小精灵面容综合征(威廉姆斯-贝伦综合征)是一种以典型面容、主动脉瓣上狭窄和智力发育迟缓为特征的疾病。迄今为止,从未有过其与脑肿瘤并存的描述。最近,我们治疗了一名先前被诊断为患有威廉姆斯综合征的脑星形细胞瘤患者。鉴于儿童星形细胞瘤的发病率以及威廉姆斯综合征的发生情况,我们想报告这一巧合。