Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies

Abstract

Three spontaneously aborted fetuses with Type I achondrogenesis in a family with a first cousin marriage are described. Studies by light microscopy revealed abnormal cartilage, enchondral, and periosteal bone, and normal tooth development with abnormal alveolar bone. Electron microscopic studies of cultured skin fibroblasts manifested structurally normal cells. Scanning electron microscopy studies had shown deficient intercartilaginous septa in the metaphysis, with abnormally large calcifying globules. In the diaphysis, the orientation of bone trabeculae and collagen fibers within the trabeculae was disturbed. The numerous osteocytic lucunae were wide and irregular in arrangement and shape. Type 2 achondrogenesis, as studied in these fetuses, is probably a widespread mesenchymal defect, manifested by abnormal calcification and ossification of enchondral and periosteal bone.