[Dysplasia spondylo-epiphysealis congenita: its heterogeneity (author's transl)].
A study of epiphyseal cartilage in two children presenting with all the clinical and radiologic features of the dysplasia spondylo-epiphysealis congenita showed abnormalities different from those usually described. In addition to dilatations of the endoplasmic reticulum, there were two types of inclusions observed in the chondrocytes, granules and spirilla, which were limited by a smooth membrane. The intercellular matrix consisted of a dense tangle of fine fibers and numerous dense granules. These findings suggest a heterogeneity for this disease.
D002356:Cartilage / Q000473:pathology* / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009085:Mucopolysaccharidosis IV / Q000473:pathology*; D013977:Tibia
La dysplasie spondylo-épiphysaire congénitale et son hétérogénéité.