Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Structural changes of collagen fibrils in skeletal dysplasias

Ultrastructural findings in the iliac crest

  • 31 Accesses

  • 11 Citations


The skeletal dysplasias are constitutional, generalized or localized disorders of the skeletal system involving a disturbance of growth and/or bone density; their genetic transmission varies. Pathomorphologically, a combined functional-structural disturbance of the cartilaginous and/or bone tissue is present. Clinically, the result is varying degrees of dwarfism.

Within the framework of a systematic examination of skeletal dysplasias, a total of 84 iliac crest specimens/biopsies obtained from stillborn infants and patients varying in age from a few days to 40 years, were investigated in the electron microscope. The sections prepared extended from the perichondrium through the proximal resting zone to the primary mineralization zone. The structure of the collagen fibrils was studied in diastrophic dysplasia, pseudoachondroplasia, the WOLCOTT-RAL-LISON syndrome, osteogenesis imperfecta, and idiopathic juvenile osteoporosis.

In diastrophic dysplasia, pseudoachondroplasia and idiopathic osteoporosis, the cartilaginous ground substance contains collagen fibrils that can vary considerably in length, structure and diameter. In one case of WOLCOTT-RALLISON syndrome, the lacunae of the chondrocytes are found to contain very wide amianthoid-like and inadequately aggregated collagen fibrils. In numerous cases, osteogenesis imperfecta reveals very fine and also irregularly structured collagen fibrils with scarcely discernible cross-striation in the region of the osteoid, which is of varying width. In some of the cases, catechin has a favourable effect on the formation of collagen fibrils, resulting in broader and more densely packed fibrils. In addition, the conditions are associated with considerable intracellular changes in the rough endoplasmic reticulum, the Golgi apparatus and the mitochondria.

This is a preview of subscription content, log in to check access.


  1. Bauer KH (1920) Über Osteogenesis imperfecta. Zugleich ein Beitrag zur Frage einer allgemeinen Erkrankung. Dtsch Z Chirurg 154:166–213

  2. Cetta G, Lenzi L, Rizzotti M, Ruggeri A, Valli M, Boni M (1977) Osteogenesis imperfecta: Morphological, Histochemical and Biochemical Aspects. Modifications Induced by (+)-Catechin. Connect Tissue Res 51:51–58

  3. Goumy P, Maroteaux P, Stanescu R, Labbe A, Menut G (1980) Syndrome de transmission récessive autosomique assoziant un diabète congénital et des désordres de la croissance des épiphyses. Arch Franc Pédiat 37:323–328

  4. Hall JG (1975) Pseudoachondroplasia. BDOAS XI, No. 6:187–202

  5. Harris E, Glaubert AM, Murley AHG (1977) Intracellular collagen fibers at the pannus-cartilage junction in rheumatoid arthritis. Arthr Rheumatol 20:657

  6. Hough AJ, Mottram EC, Sokoloff LS (1973) The collagenous nature of amianthoid degeneration of human costal cartilage. Am J Pathol 73:201–2

  7. Horton W, Rimoin DL, Hollister DW, Silberberg R (1979) Diastrophic Dwarfism: A Histochemical and Ultrastructural Study of the Enchondral Growth Plate. Pediatr Res 13:904

  8. International Nomenclature of Constitutional Diseases of Bone (1983) Ann Radiol 26:457–462

  9. Kirsch E, Krieg T, Remberger K, Fendel H, Bruckner P, Müller P, Müller PK (1981) Disorder of Collagen Metabolism in a Patient with Osteogenesis imperfecta lethal type: Increased Degree of Hydroxylation of Lysin in Collagen Types I and III. Eur J of Clin Invest 11:39–47

  10. Kühn K, Mark K v d (1978) The influence of proteoglycans on the macromolecular structure of collagen. In: Kühn K, Marx R (eds) Collagen-platelet interaction. Schattauer, Stuttgart

  11. Lamy M, Maroteaux P (1960) Le anisme diastrophique. Press Med 68:1977–1980

  12. Maroteaux P (1979) Bone diseases of children. J.B. Lippincott Company, Philadelphia

  13. Maroteaux P, Lamy M (1959) Les formes pseudoachondroplasiques des dysplasies spondyloepiphysaires. Press Méd 67:383

  14. Müller PK, Raisch K, Matzen K, Gay S (1977) Presence of type III collagen in bone from a patient with osteogenesis imperfecta. Eur J Pediat 125:29–37

  15. Penttinen RP, Lichtenstein JR, Martin GR, McKusick VA (1975) Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta (collagen types/fibroblasts). Proc Nat Acad Sci (Wash) 72:586–589

  16. Pontz BF, Stöss H, Pesch HJ (1982) Flavonoids and Osteogenesis imperfecta. Mainz Symposion on Bone Dysplasias. Abstracts: 27–29

  17. Pontz BF, Krieg T, Müller PK (1982) (+)-Cyanidanol-3 Changes Functional Properties of Collagen. Biochem Pharmacol 31:3581–3589

  18. Rimoin DL (1975) The Chondrodystrophics. In: Harries H, Hirschhorn K (eds) Human Genetics 5. Plenum Press, New York, London

  19. Schulz A (1977) A Reliable Method of Preparing undecalcified Human Bone Biopsies for Electron Microscopic Investigation. Microscopica Acta 80:7–18

  20. Sillence DO, Senn A, Danks DM (1979) Genetic Heterogeneity in Osteogenesis imperfecta. J Med Genet 16:101–116

  21. Sillence DO, Horton WA, Rimoin DL (1979) Morphologic Studies in the Skeletal Dysplasias. Am J Pathol 99:813–871

  22. Spranger J, Langer LO, Wiedemann MR (1974) Bone dysplasias. Fischer, Stuttgart

  23. Spranger J (1982) Osteogenesis imperfecta 1982. In: Papadatos CJ, Bartsocas CS (eds) Skeletal dysplasias. Alan R Liss, New York 223–233

  24. Spurr AR (1969) A low-viscosity Resin Embedding for Electron Microscopy. J Ultrastr Res 26:31–43

  25. Stanescu V, Stanescu R, Maroteaux P (1977) Etude morphologique et biochimique du cartilage de croissance dans les Osteochondrodysplasias. Arch Franc Pédiat 34, suppl. 3

  26. Stanescu V, Stanescu R (1980) Morphological and Biochemical Studies on Growth Cartilage of Osteochondrodysplasias. In: Spranger J, Tolksdorf M (eds) Klinische Genetik in der Pädiatrie, Thieme, Stuttgart

  27. Stanescu V, Maroteaux P, Stanescu R (1982) The Biochemical Defect of Pseudoachondroplasia. Eur J Pediatr 138:221–225

  28. Stanescu R, Stanescu V, Maroteaux P (1982) Abnormal Pattern of Segmental Long Spacing (SLS) Cartilage Collagen in Diastrophic Dysplasia. Coll Rel Res 2:111–116

  29. Stöss H, Pesch HJ, Spranger J (1979) Therapie der Osteogenesis imperfecta mit (+)-Catechin. DMW 50:1774–1778

  30. Stöss H, Pesch HJ, Spranger J (1980) Wolcott-Syndrom. Licht- und ektronenmikroskopische Befunde am Beckenkamm. Verb Dtsch Ges Pathol 64:453

  31. Stöss H, Pesch HJ, Pontz B, Otten A, Spranger J (1982a) Wolcott-Rallison-Syndrome: Diabetes mellitus and Spondyloepiphyseal Dysplasia. Eur J Pediatr 138:120–129

  32. Stöss H, Pesch HJ, Spranger J (1982b) Zur Aussagefähigkeit der Beckenkammbiopsie bei spondyloepiphysären Skeletdysplasien. Licht- und elektronenmikroskopische Befunde am Beckenkamm. Verb Dtsch Ges Pathol 66:151–156

  33. Stöss H, Pesch HJ, Spranger J (1982c) Different morphologic Findings and Genetic Heterogeneity in Pseudoachondroplasia. Light- and electron-microscopic observations in iliac crest bioptic material. In: Papadatos CJ, Bartsocas CS (eds) Skeletal dysplasias. Alan R Liss, New York, pp 379–383

  34. Stöss H, Pesch HJ, Spranger J, Burck U, Wagner H (1982) Zur pathomorphologischen Variabilität der diastrophischen Dysplasie. Verh Dtsch Ges Pathol 66:620

  35. Trump BF, Jones RT (1978) Diagnostic Electron Microscopy Vol 1. J Wiley & Sons, New York

  36. Wolcott CD, Rallison ML (1972) Infancy-onset Diabetes mellitus and Multiple Epiphyseal Dysplasia. J of Pediatr 80:292–297

Download references

Author information

Correspondence to H. Söß.

Additional information

Supported by a grant from the Stiftung Volkswagenwerk Research Project: Skeletal Dysplasias

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Söß, H., Pesch, H.-. Structural changes of collagen fibrils in skeletal dysplasias. Vichows Archiv A Pathol Anat 405, 341–364 (1985). https://doi.org/10.1007/BF00710070

Download citation


  • Osteoporosis
  • Fibril
  • Catechin
  • Golgi Apparatus
  • Collagen Fibril