The Lethal Osteochondrodysplasias

  • Jürgen Spranger
  • Pierre Maroteaux
Part of the Advances in Human Genetics book series (AHUG, volume 19)


Achondrogenesis was first described in 1936 by Parenti (1936). Lethal cases of osteogenesis imperfecta have been known since Vrolik’s (1849) description. Achondroplasia (formerly chondrodystrophy) was the only other diagnosis for all other dwarfed newborns until thanatophoric dysplasia was recognized as a separate entity (Maroteaux et al., 1967).


Vertebral Body Osteogenesis Imperfecta Tubular Bone Thanatophoric Dysplasia Rhizomelic Chondrodysplasia Punctata 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 1990

Authors and Affiliations

  • Jürgen Spranger
    • 1
  • Pierre Maroteaux
    • 2
  1. 1.Children’s HospitalUniversity of MainzMainzFederal Republic of Germany
  2. 2.Sick Children’s HospitalParisFrance

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