Maroteaux P, Stanescu R, Cohen-Solal D
Nouv Presse Med. 1975 Sep 20;4(30):2169-72.
An ultrastructural study of growth cartilage permitted individualization of a particular form of polyepiphyseal dysplasia which differs clinically and radiologically only slightly from the dominant form. The main difference concerns the superior femoral epiphyses which are more flattened and spread out. Inclusions, probably of lysosomial origin and containing granulous or filamentous material, were observed. This aspect is different from that observed in the dominant form and consisting of swellings of the endoplasmic reticulum with a suggestion of a periodical structure. The mode of inheritance could not be firmly demonstrated. Some degree of consanguinity of the second patient's parents favours an autosomal recessive inheritance.
一项关于生长软骨的超微结构研究，使一种特殊类型的多发性骨骺发育异常得以个体化，该类型在临床和放射学上与主要类型仅有轻微差异。主要区别在于股骨上端骨骺更扁平且向外扩展。观察到一些可能起源于溶酶体且含有颗粒状或丝状物质的包涵体。这一表现与主要类型中观察到的内质网肿胀且有周期性结构迹象不同。遗传方式无法确切证实。第二位患者父母存在一定程度的近亲关系，这支持常染色体隐性遗传。
