Fischbach M, Lutz J D, Tongio J, Sauvage P, Geisert J, Levy J M
Sem Hop. 1979;55(13-14):689-93.
The authors presented a case of the Williams and Beuren's syndrome, special by the existence of aorta coarctation, high blood pressure, nephrotic syndrome and renal dysplasia. The Williams-Beuren's syndrome is characterised by the association of facial anomalies, mental retardation and supra-valvular aortic stenosis. The case presented in this study demonstrates: -- the symptomatic diversity of the Williams and Beuren's syndrome; -- and the relationship of this syndrome and severe idiopathic hypercalcemia of the infant. The etiopathogenesis is also discussed.
作者报告了一例威廉姆斯-贝伦综合征病例,其特殊之处在于存在主动脉缩窄、高血压、肾病综合征和肾发育不良。威廉姆斯-贝伦综合征的特征是面部异常、智力发育迟缓以及主动脉瓣上狭窄同时存在。本研究中呈现的病例表明:——威廉姆斯-贝伦综合征症状的多样性;——以及该综合征与婴儿严重特发性高钙血症的关系。同时也对其发病机制进行了讨论。