Clonal Growth of Epiphyseal Chondrocytes from Patients with Different Forms of Osteogenesis Imperfecta

  • U. Vetter
  • B. Maier
Conference paper

Abstract

Osteogenesis imperfecta (O.I.) is a disease of the connective tissue characterized by bone fragility, osteopenia, progressing skeletal deformities and often significant short stature. The Sillence classification [4] identifies four major subgroups of patients. Type I and type IV patients show an autosomal dominant mode of inheritance and a mild or moderate form of the disease, Type II is the lethal form. Type III shows a severe clinical course complicated by a high fracture rate, progressive skeletal deformities and dwarfism. Both forms (II and III) are genetically heterogeneous [6], O.I. most likely results from a variety of deletions, insertions and point mutations of the genes coding for collagen type I [2].

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. 1.
    Bullough PG, Davidson DD, Lorenzo JC (1981) The morbid anatomy of the skeleton in O.I.. Clin Orthop Rel Res 159:42Google Scholar
  2. 2.
    Byers P (1988) Osteogenesis imperfecta: an update. Growth, Genetics & Hormones 4:1Google Scholar
  3. 3.
    Froesch ER, Zapf J (1985) Insulin-like growth factors and insulin: comparative aspects. Diabetologia 28:485PubMedCrossRefGoogle Scholar
  4. 4.
    Sillence DO, Rimoin DL (1978) Classification of osteogenesis imperfecta. Lancet 1:1041PubMedCrossRefGoogle Scholar
  5. 5.
    Stoess H (1985) Cartilaginous changes in O.I. In: Endocrine genet. & genet, of growth. A. Liss, New YorkGoogle Scholar
  6. 6.
    Thompson EM, Young ID, Hall CM, Pembrey ME (1987) Recurrence risk and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 24:390PubMedCrossRefGoogle Scholar
  7. 7.
    Vetter U, Zapf J, Heit W, Helbing G, Heinze E, Froesch ER, Teller WM (1986) Human fetal and adult chondrocytes. Effects of IGF I and II, insulin and growth hormone on clonal growth. J Clin Invest 77:1903PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1991

Authors and Affiliations

  • U. Vetter
    • 1
  • B. Maier
    • 2
  1. 1.Abteilung Pädiatrie IUniversität UlmUlmGermany
  2. 2.NIH/National Institute of Dental ResearchBethesdaUSA

Personalised recommendations