MULTIPLE EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE - MORPHOLOGIC AND BIOCHEMICAL-STUDY OF CARTILAGE

被引:61
作者
STANESCU, R
STANESCU, V
MURIEL, MP
MAROTEAUX, P
机构
[1] CNRS URA 584, Clinique M. Lamy, Hopital des Enfants-Malades, 75743 Paris Cedex 15, 149, rue de Sevres
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 04期
关键词
CHONDRODYSPLASIA; GROWTH CARTILAGE; PROTEOGLYCANS;
D O I
10.1002/ajmg.1320450420
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We have performed histochemical, immunohistochemical, electron microscopic, and bio. chemical studies on the upper tibial cartilage from a case of multiple epiphyseal dysplasia, Fairbank type. Most chondrocytes had intracytoplasmic inclusions which took the stains for proteins and were resistant to microbial collagenase digestion. The electron microscopic study showed that the inclusions are dilatations of the rough endoplasmic reticulum containing a material with alternately wide electron dense and electron lucent layers. Both in optical and in electron microscopy the inclusions fixed antibodies against the core protein of the large cartilage proteoglycans (aggrecans). They didn't stain with antibodies against type II collagen. The gel electrophoretic pattern of the large proteoglycans was different from normal controls. The morphologic and biochemical alterations found in multiple epiphyseal dysplasia are similar to those already described in pseudoachondroplasia (Stanescu et al.: Eur J Pediatr 138:121-225,1982; Stanescu et al.: J Bone Joint Surg 66A:817-836, 1984). However, the inclusions are smaller and the growth cartilage much less disorganized in multiple epiphyseal dysplasia. The similarity of morphologic and biochemical abnormalities strongly suggests that the two diseases have a similar pathogenesis and belong to the same bone dysplasia family.
引用
收藏
页码:501 / 507
页数:7
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