Figure 4.

Transmission Electron Microscopy in Fibroblasts from Three Desbuquois Dysplasia Patients

(A–C) RER cisternae appeared markedly dilated in the vast majority of cells, in which there was an accumulation of slightly electron-dense, fibrillar, or finely granular proteinaceous material (arrows). Interestingly, there is no evidence of ribosome detachment, commonly observed in severe oxidative stress.

(D) Cultured fibroblasts from healthy individuals failed to display significant enlargement of RER (arrowhead). (staining was with uranyl acetate and lead citrate; original magnification ×15,000).