Abstract
The light- and electron-microscopic structure of articular and costal cartilage in a case of achondrogenesis type I has been described. The most characteristic ultrastructural change in the chondrocytes was conspicuous dilatation of the rough endoplasmatic reticulum (RER) which contained amorphous electronopaque material. This change in the RER was accompanied by marked hypertrophy of the Golgi apparatus; the matrix was basically unchanged.
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Beluffi, G.: Achondrogenesis, Type I. Fortschr. Röntgenstr. 127, 341–344 (1977)
Curran, J. P., Sigmon, B. A., Opitz, J. M.: Lethal forms of chondrodysplastic dwarfism. Pediatrics 5, 76–85 (1974)
Fraccaro, M.: Contributo allo studio delle malattie del mesenchima osteopoietico l'acondrogenesi. Folia hered. path. (Milano) 1, 190–207 (195)
Harris, R., Patton, J. T., Barson, A. J.: Pseudo-achondrogenesis with fractures. Clin. Genetics 3, 435–441 (1972)
Houston, C. St., Awen, C. F., Kent, H. P.: Fatal neonatal dwarfism. J. Canad. Ass. Radiol. 23, 45–61 (1972)
Jiminez, R. B., Holmes, L. B., Kaiser, J. S., Weber, A. L.: Achondrogenesis. Pediatrics 51, 1087–1090 (1973)
Langer, L. O., Spranger, J. W., Greinacher, J., Herdman, R. C.: Thanatophoric dwarfism. Radiology 92, 285 (1969)
Lauder, I., Ellis, H. A., Ashcroft, T., Burridge, A.: Achondrogenesis type I. Arch. Dis. Childh. 51, 550–557 (1976)
Parenti, G. C.: La anosteogenesi. Pathologica 28, 447–462 (1936)
Rimoin, D. L., McAlister, W. H., Saldino, R. M., Hall, J. G.: Histologic appearances of some types of congenital dwarfism. Progr. Pediat. Radiol., Vol. 4, Intrinsic Diseases of Bones, 68–92. Basel: Karger 1973
Saldino, R. M.: Lethal short-limbed dwarfism: Achondrogensis and thanatophoric dwarfism. Amer. J. Roentgenol. 112, 185–197 (1971)
Silberberg, R.: Ultrastructure of cartilage in chondrodystrophies. Birth Defects 10, 306–313 (1974)
Spranger, J., Langer, L. O. jr., Wiedemann, H.-R.: Bone dysplasias. An atlas of constitutional disorder of skeletal development, pp. 24–26. Fischer: 1974
Urso, F. P., Urso, M. J.: Achondrogenesis in two sibs. Birth Defects, Vol. X, No. 12, 11–18 (1974)
Wiedemann, H.-R., Remagen, W., Hienz, H. A., Gorlin, R. J., Maroteaux, P.: Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias. Z. Kinderheilk. 116, 223–251 (1974)
Xanthakos, U. F., Rejent, M. M.: Achondrogenesis: case report and review of the literature. J. Pediat. 82, 658–663 (1973)
Yang, S.-S., Heidelberger, K. P., Bernstein, J.: Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis. Human Path. 7, 667–673 (1976)
Yang, S.-S., Bernstein, J.: Achondrogenesis type I. Arch. Dis. Childh. 52, 253–254 (1977)
Yang, S.-S., Heidelberger, K. P., Brough, A. J., Corbett, D. P., Bernstein, J.: Lethal short-limbed chondrodysplasia in early infancy. Perspect. in Pediatr. Pathology, Vol. 3, 1–40 (1976) Year Book Med. Publ., Inc. Chicago
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Professor E. Uehlinger in honour of his 80th birthday
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Molz, G., Spycher, M.A. Achondrogenesis type I: Light and electron-microscopic studies. Eur J Pediatr 134, 69–74 (1980). https://doi.org/10.1007/BF00442406
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DOI: https://doi.org/10.1007/BF00442406