Abnormal ossification in thanatophoric dysplasia.
Abnormal ossification in thanatophoric dysplasia.
复制标题
死亡发育不良中的异常骨化。
DOI：
10.1016/8756-3282(88)90027-0
复制
发表时间：
1988
期刊：
影响因子：
4.1
通讯作者：
Griffey,ES
中科院分区：
文献类型：
--
作者：
Horton,WA;Hood,OJ;Machado,MA;Ahmed,S;Griffey,ES
骨性发育不良（TD）是一种以严重侏儒症为特征的致死性人骨发育不良。其发病机制被认为涉及异常骨化纤维组织，破坏骨骼生长板。我们采用形态学、免疫组织化学和生化相结合的方法，更好地定义了15例观察到异常的TD胎儿和婴儿生长板软骨组织的性质。组织被组织成簇状，包括间质结缔组织帽，帽附近含有成骨前细胞和基部附近的成骨细胞的过渡区，以及形成软骨下骨小梁的矿化基部。细胞的形态和I型胶原蛋白的存在表明它们是膜性骨化的病灶。然而，在成骨细胞和邻近的骨细胞的细胞周基质中发现了软骨基质的成分（II型胶原、蛋白聚糖、连接蛋白）。这些观察结果表明，一种特殊形式的骨化发生在TD生长板，并可能参与疾病的发病机制。
Thanatophoric dysplasia (TD) is a lethal human bone dysplasia characterized by severe dwarfism. It pathogenesis is thought to involve an abnormal ossifying fibrous tissue that disrupts the skeletal growth plate. We employed a combined morphologic, immunohistochemical and biochemical approach to better define the nature of this tissue in growth plate cartilage from 15 TD fetuses and infants in whom the abnormality was observed. The tissue was organized into tufts comprised of a cap of interstitial connective tissue, a transition region containing preosteoblastic cells near the cap and osteoblastic cells near the base, and a mineralized base which formed the subchondral bone trabeculae. The morphology of the cells and the presence of type I collagen in all regions of the tufts suggested that they were foci of membraneous ossification. However, elements of cartilage matrix (type II collagen, proteoglycan, link protein) were identified in the pericellular matrix of the osteoblastic cells and adjacent osteocytic cells. These observations suggest that a peculiar form of ossification occurs in the TD growth plate and may be involved in the pathogenesis of the disorder.