胎儿软骨发育不全14例临床病理分析  

Fetal achondroplasia:a clinicopathologic analysis of 14 cases

作　　者：詹阳[1] 李宝珠[1] 谷玉春[1] 朱力[1] 

机构地区：[1]首都医科大学附属北京妇产医院病理科,北京100026

出　　处：《诊断病理学杂志》2011年第6期414-419,共6页Chinese Journal of Diagnostic Pathology

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。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 long bones was much lower than the normal values.In histopathology,the fetal achondroplasia was characterized by the uneven border between bone and cartilage.The cartilage matrix of most cases was mucoid degeneration in varied degrees.The capillary was hyperplasia and infiltrated into cartilage irregularly.The hyperplasia chondrocytes were lack of maturation and calcification,could not be in succession in the growth plate and did not line up in columns as normal.The isogenous chondrocytes were not in groups,but revealed sheets of cells.Conclusion Achondroplasia is a rare abnormal endochondral ossification,and can be diagnosed by pathological findings in fetal autopsy.There are other malformations in other organs.It is necessary to elucidate the etiology of achondroplasia to avoid it.

关 键 词：软骨发育不全 尸检 临床病理 基因突变 

分 类 号：R714.431[医药卫生—妇产科学]