釉质生长不全、肾钙质沉着、肾浓缩功能障碍综合征——可能为钙代谢异常

• 作 者: 孟祥文
• 出 处: 国外医学.遗传学分册
• 发表日期: 1986年01期
• 关键词: 肾钙质沉着 釉质 综合征 外胚层 不良性 功能障碍 钙代谢 萌出 咬合面 牙冠

发育不良性釉质生长不全可单独发生,亦可见于多种外胚层综合征及代谢紊乱。1972年,MacGibbon曾报道一对患者釉质缺乏、肾钙质沉着而钙心谢正常的兄妹。本文所研究的是第二例存在有这种综合征的一对同胞。钙结合蛋白异常可能为这种罕见疾病的发病基础,但也可能是继发性紊乱。临床报告:哥哥(P.M)11岁,妹妹

Aplastic hypoplasia incomplete growth can occur alone, can also be found in a variety of ectodermal syndromes and metabolic disorders. In 1972, MacGibbon reported a pair of brothers and sisters who had normal enamel, nephrocalcinosis, and normal calcium. This article examines the second case of a pair of siblings with this syndrome. Abnormal calcium-binding protein may be the basis for the pathogenesis of this rare disease, but may also be secondary disorders. Clinical Report: Brother (P.M) 11 years old, sister