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European Journal of Pediatrics

, Volume 153, Issue 2, pp 56–65 | Cite as

The type II collagenopathies: A spectrum of chondrodysplasias

  • J. Spranger
  • A. Winterpacht
  • B. Zabel
Review

Abstract

With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondylo-epiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthro-opthalmopathy and mild dominant spondyloarthropathy. The mutations are expressed in the heterozygous state, and inheritance of type II collagenopathies is autosomal dominant. The wide range of clinical manifestations is not well understood but characterization of the basic defect may provide clues to establish specific genotype-phenotype correlations.

Key words

Osteochondrodysplasia Collagen Cartilage Dwarfism 

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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • J. Spranger
    • 1
  • A. Winterpacht
    • 1
  • B. Zabel
    • 1
  1. 1.Universitäts-KinderklinikMainzGermany

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