软骨发育不全7例尸检病理形态学观察

Histopathologic changes of achondroplasia: a report of 7 autopsied cases

目的研究软骨发育不全的病理学特征。方法对7例软骨发育不全病例进行系统解剖,测量上、下肢长度;镜下观察股骨、胫腓骨、椎骨、肋骨和髂骨等处骨外膜、骨皮质、骨松质的形态、厚度并作出描述和测量。结果上肢平均长度比对照组少40.6%;下肢少24.4%;镜下见骨软骨连接处形成崎岖不整的平面,骨骺软骨生长带细胞增殖欠佳,软骨细胞缺乏正常的栅栏状线性排列,软骨化骨过程较正常同胎龄儿延迟,毛细血管增生并不规则长入软骨内。结论软骨发育不全主要影响管状骨的软骨内化骨。其他主要器官未见发育异常。

Purpose To investigate the pathologic characteristics of achondroplasia. Methods Systemic autopsy was performed in 7 dead foetus of achondroplasia, the length of upper limb and lower limb measured, and the morphology of femur, tibia, fibula, vertebrae, costal bone and ilium observed under microscope. Results The average length of upper limb was 40.6% shorter than that of control group, and the average length of lower limb was 24.4% shorter than that of control group. Microscopically, the junction line between bone and cartilage was uneven and tangled, and hyperplasia of cells in the growth zone of epiphyseal cartilage was not as good as normal. The arrangement of chondrocytes was not in palisade form and linear, endochondral ossification was later than normal fetus of same embryonic age, and capillary was hyperplasia and extended into cartilage irregularly. Conclusions Achondroplasia impacts mainly on endochondral ossification of long bone. There are no malformations in any other organs.