[Poly-epiphyseal dysplasia, probably autosomal recessive. Contribution of the ultrastructural study to the discovery of this autonomous form].
Nouv Presse Med, 1975/9/20;4(30):2169-72.
Maroteaux P, Stanescu R, Cohen-Solal D
PMID: 170585
Abstract
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.
MeSH terms
Cartilage; Child, Preschool; Chondrodysplasia Punctata; Cytoplasmic Granules; Endoplasmic Reticulum; Genes, Recessive; Humans; Inclusion Bodies; Lysosomes; Male; Vacuoles
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