ISSN:
1432-1998
Keywords:
Dwarfism
;
Autosomal dominant
;
Phenotypic expression
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract This report deals with an unusual case of spondyloepiphyseal dysplasia, where the diagnosis was suspected clinically and radiologically and where cartilage and osseocartilaginous specimens were taken for ultrastructural and biochemical analyses. Unlike cases described previously the electron microscopic studies of chondrocytes showed dilatation of the rough endoplasmic reticulum cisternae. The dilated cisternae contained an amorphous substance, and the picture is suggestive of a metabolic disturbance. The results of the biochemical analyses were within the normal range and did not indicate storage of glycosaminoglycans.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01625822
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