| 胎儿软骨发育不全14例临床病理分析 |
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| 引用本文： | 詹阳,李宝珠,谷玉春,朱力.胎儿软骨发育不全14例临床病理分析[J].诊断病理学杂志,2011,18(6). |
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| 作者姓名： | 詹阳 李宝珠 谷玉春 朱力 |
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| 作者单位： | 首都医科大学附属北京妇产医院病理科,北京,100026 |
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| 摘 要： | 目的 探讨胎儿软骨发育不全(ACH)的临床病理特征.方法 对14例软骨发育不全胎儿尸检的临床病理资料进行回顾性分析并随访.结果 14例胎儿均无家族史,属新发病例,未发现明显引起基因突变的原因.胎儿ACH具有特征性的临床病理表现,胎儿长骨明显短于正常值.组织病理学,骨、软骨连接处凹凸不平,软骨黏液变性,软骨内毛细血管不规则增生；增殖的软骨细胞成熟和钙化异常,缺乏正常的柱状排列,同源细胞成片分布.结论 ACH是一种罕见的软骨内成骨骨化异常,病理检查可以确诊.该病变可以伴发其他畸形,病因有待于进一步研究.
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| 关 键 词： | 软骨发育不全 尸检 临床病理 基因突变 |
Fetal achondroplasia: a clinicopathologic analysis of 14 cases |
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| ZHAN Yang,LI Bao-zhu,GU Yu-chun,ZHU Li.Fetal achondroplasia: a clinicopathologic analysis of 14 cases[J].Chinese Journal of Diagnostic Pathology,2011,18(6). |
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| Authors: | ZHAN Yang LI Bao-zhu GU Yu-chun ZHU Li |
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| Institution: | ZHAN Yang,LI Bao-zhu,GU Yu-chun,ZHU Li(Department of Pathology,Beijing Obstetrics Gynecology Hospital,Capital Medical University,Beijing 100026,China) |
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| Abstract: | Objective To evaluate the clinicopathological features of fetal achondroplasia inherited as an autosomal dominant trait.Methods Clinical and pathological data from 14 autopsied cases fetal because of achondroplasia were analyzed retrospectively,while the parents were followed up.Results All of fetuses with achondroplasia were associated with de-novo mutation with unknoun causes and had no familial history.Fetal achondroplasia had its special clinicopathological characters.Those cases showed the length of lo... |
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| Keywords: | Achondroplasia Autopsy Clinicopathological Gene mutation |
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