Osteogenesis Imperfecta — A Model for the Analysis of Inborn Errors of Connective Tissue

  • F. Ramirez
Part of the Basic Life Sciences book series (BLSC, volume 48)


Skeletal dysplasias is the term generally used to identify those pathological conditions of the connective tissue that result in disproportionate stature and/or skeletal deformities. This vastly heterogeneous group of disorders encompasses more than one hundred distinct syndromes, whose severity ranges from mild to perinatally lethal. While others will discuss in more detail the problems connected with the generation of a unified and comprehensive classification of the skeletal dysplasias, here I will briefly outline our most recent acquisitions regarding the molecular basis of one such disorder: Osteogenesis imperfecta (OI). This inborn abnormality, characterized by an unusual bone fragility, has been clearly associated with dysfunctions of the pro α chains of Type I collagen. This heterotrimeric macromolecule is the most abundant protein found in bone, where it provides the scaffold for the mineralization process. Similarly, a genetically distinct collagen.


Osteogenesis Imperfecta Marfan Syndrome Skeletal Dysplasia Fibrillar Collagen Collagen Mutation 
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Copyright information

© Plenum Press, New York 1988

Authors and Affiliations

  • F. Ramirez
    • 1
  1. 1.Dept. of Microbiology and Immunology, Morse Institute of Molecular GeneticsS.U.N.Y.BrooklynUSA

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