Hypochondrogenesis; an additional case.
In a case of hypochondrogenesis, abnormal fat deposits were found in the chondrocytes, by anatomopathological and by ultrastructural examination. In the cultured fibroblast we were unable to demonstrate abnormal lipid loading. Our case could be isolated from other types of lethal congenital chondrodysplasias--especially the lethal type of spondyloepiphyseal dysplasia congenita--by microscopic and ultrastructural investigations.
D000130:Achondroplasia / Q000175:diagnosis*; D002356:Cartilage / Q000032:analysis / Q000648:ultrastructure; D005347:Fibroblasts / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008055:Lipids / Q000032:analysis; D008297:Male; D008854:Microscopy, Electron
D008055:Lipids