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先天性胫骨假关节的病因学研究进展 被引量:8

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摘要 先天性胫骨假关节(congenital pseudarthrosis of the tibia,CPT)是由于发育异常导致的胫骨畸形,表现为胫骨成角畸形、髓腔狭窄或囊肿等,最终形成不愈合的假关节。其发生率占新生儿的1/140000~1/250000。先天性胫骨假关节是骨科领域了解较少、治疗极其困难的疾病。从1709年Hatzoecher首先报告本病以来,已有300余年历史,病因至今不完全清楚。曾有多种学说,如宫内压迫、产伤、血运障碍、全身代谢性疾病等,但都缺乏充足的证据。该病与1型神经纤维瘤病(NF1)存在复杂关系。本文从该病的病理学特点、骨发育相关细胞因子的表达、遗传学与基因学研究、及与1型神经纤维瘤病的关系等方面综述其病因学研究进展。
出处 《临床小儿外科杂志》 CAS 2013年第3期234-236,254,共4页 Journal of Clinical Pediatric Surgery
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参考文献29

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二级参考文献7

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