先天性胫骨缺失
张国川
摘要(Abstract)：
<正> 先天性胫骨缺失(Congenital deficiency of the tibia)包括胫侧半肢畸形(tibial paraxial hemimelia)、发育不全(aplasia)和发育不良(dysplasia)常伴有其它部位的骨与关节畸形和内脏缺陷。美国新生儿患病率大约为百万分之一。无地区、种族及性别差异。1841年Otto 首次描述,之后很多学者撰文报道个案,研究病因,探讨分类和治疗,但缺乏系统性阐述。作者查阅了1965年以来的部分文献,作较为详细的系统性描述。1 病因 部分文献报告了患者呈家族性分布。Clark MW等分别对家谱研究,认为先天性胫骨缺失合并五指畸形或裂手、叉状股骨、尺骨缺陷,均呈常染色体显性遗传。而Wolfsang Garg L认为常染色体隐性遗传也不能除外。酞胺哌啶酮(反应停)、辐射与病毒感染是致畸因素。在胚胎发育阶段,肢体胚芽与中枢神经系统及内脏胚基邻近,所以通常同时受损而伴发相应缺陷。
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作者(Author): 张国川
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参考文献(References)：
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