Some chondrodysplasias with short limbs: Molecular perspectives


  • M. Michael Cohen , Jr.

    Corresponding author
    1. Departments of Oral and Maxillofacial Sciences, Pediatrics, Community Health and Epidemiology, Health Services Administration, and Sociology and Social Anthropology, Dalhousie University, Halifax, Nova Scotia, Canada
    • Dalhousie University, Halifax, Nova Scotia, B3H 3J5, Canada.
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A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by fibroblast growth factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN. © 2002 Wiley-Liss, Inc.