【摘要】 本文报导了新疆南部严重缺碘地区存在的软骨发育不全,有些病例合并甲状腺肿,粘液性水肿,TSH 升高,T₄水平降低。详述了该病的临床特征,实验室检查结果,系统骨骼 X 线表现,环境水,土微量元素丰缺特点。并对9例软骨发育不全患者与24例正常人血清 Fe、Cu、Zn 含量进行了比较分析,提示:软骨发育不全可能与缺碘缺锰导致基因突变有关的病因学。更多还原

【Abstract】 This paper reports on the presence of achondroplasis in areas severly affectedwith iodine deficiency disorder in southern Xinjiang.It was found that some cases had been complicated with goiter,myxedema,elevated TSH levels and reduced T4 levels.The clinical features,laboratory findi-ngs and radiological skeletal characteristics of these cases and deficiency or suffi-ciency of trace elements in environmental water and soil are described in detail.The Fe,Cu and Zn contents in sera from 9 cases of achondroplasis and from 24normal adults were compared and the result showed that achondroplasis mightbe etiologically related to genie mutation resulting from iodine and manganesedeficiency.更多还原