Abnormal regulation of circulating 25-hydroxyvitamin D in the Williams syndrome.
Abnormal regulation of circulating 25-hydroxyvitamin D in the Williams syndrome.
复制标题
威廉姆斯综合征中循环 25-羟基维生素 D 的异常调节。
DOI：
10.1056/nejm198204223061607
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发表时间：
1982
期刊：
影响因子：
--
通讯作者：
Bell,NH
中科院分区：
文献类型：
--
作者：
Taylor,AB;Stern,PH;Bell,NH
威廉斯综合征的特征是主动脉瓣上狭窄、智力低下和面部畸形。1、2此外，还可能出现轻度小头畸形、神经功能障碍、拇外翻、疝气、漏斗胸和其他先天性心脏和血管缺陷。该综合征的特征是眉毛内侧红肿，眼睑裂隙短，眼球低张，鼻桥凹陷，眶周饱满，斜视，蓝眼睛，虹膜星状图案，突出的嘴唇，磨牙增生。2该综合征常与特发性婴儿高钙血症有关，通常发生在生命的第一年。34567891011患者对维生素D，6，6平衡的敏感性增加。
THE Williams syndrome is characterized by the triad supravalvular aortic stenosis, mental retardation, and an elfin facies.1,2In addition, mild microcephaly, neurologic dysfunction, hallux valgus, hernias, pectus excavatum, and other congenital cardiac and vascular defects may be present. The unique facies is characterized by a medial eyebrow flare, short palpebral fissures, ocular hypotelorism, a depressed nasal bridge, periorbital fullness, strabismus, blue eyes, a stellate pattern in the iris, prominent lips, and molar hyperplasia.2The syndrome is often associated with idiopathic hypercalcemia of infancy, which usually occurs in the first year of life.34567891011Patients have increased sensitivity to vitamin D.5,6Balance . . .