Diastropic Dwarfism: a Histochemical and Ultrastructural Study of the Endochondral Growth Plate
Diastropic Dwarfism: a Histochemical and Ultrastructural Study of the Endochondral Growth Plate
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变形性侏儒症：软骨内生长板的组织化学和超微结构研究
DOI：
10.1203/00006450-197908000-00007
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发表时间：
1979
影响因子：
3.6
通讯作者：
R. Silberberg
中科院分区：
文献类型：
--
作者：
W. Horton;D. Rimoin;D. Hollister;R. Silberberg
总结：对5例畸形性侏儒症患者的软骨-骨组织进行了组织学、组织化学和电镜观察。主要异常表现为：1）静止软骨中变性软骨细胞分布不规则，2）静止软骨中胶原分布异常，3）静止软骨中纤维基质病变范围从聚集的胶原纤维到发生软骨内骨化的大囊性病变;和4）生长板内的缩短的、不规则的细胞柱，其偶尔被从静止软骨延伸的基质损伤破坏。这些改变在软骨-骨形态尚未观察到任何其他骨骼发育不良检查的日期，似乎是pathognomonic为这种disorder.Speculation：在diastropic侏儒症的基本异常可能是一种代谢异常的软骨细胞，使其易于细胞死亡或加工缺陷，在其合成的胶原蛋白或蛋白聚糖。酶缺乏可产生任何一种类型的缺陷，并与这种疾病的常染色体隐性遗传相一致。
Summary: Chondro-osseous tissue from five patients with diastropic dwarfism was studied by histologie, histochcmical, and electron microscopic methods. The major abnormalities observed were: 1) irregular distribution of chondrocytes undergoing degeneration in the resting cartilage; 2) abnormal distribution of collagen in the resting cartilage; 3) a spectrum of fibrous matrix lesions in the resting cartilage which ranged from focal areas of aggregated collagen fibrils to large cystic lesions in which intracartilagenous ossification occurred; and 4) shortened, irregular cellular columns within the growth plate which were occasionally disrupted by matrix lesions extending from the resting cartilage. These alterations in chondro-osseous morphology have not been observed in any of the other skeletal dysplasias examined to date and appear to be pathognomonic for this disorder.Speculation: The basic abnormality in diastropic dwarfism may be a metabolic abnormality in the chondrocyte which predisposes it to cell death or a processing defect in its synthesis of either collagen or proteoglycan. An enzyme deficiency could produce either type of defect and would be consistent with the autosomal recessive inheritance of this disorder.