Abstract
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.
Copyright 2002 Wiley-Liss, Inc.
MeSH terms
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Achondroplasia / genetics
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Achondroplasia / metabolism
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Achondroplasia / pathology
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Cell Differentiation
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Chondrocytes / pathology
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Collagen Type I / chemistry
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Collagen Type I / genetics
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Humans
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Limb Deformities, Congenital / genetics*
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Limb Deformities, Congenital / pathology
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Models, Biological
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Mutation
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Osteochondrodysplasias / genetics*
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Osteochondrodysplasias / metabolism
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Osteochondrodysplasias / pathology
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Osteogenesis Imperfecta / genetics
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Phenotype
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Protein-Tyrosine Kinases*
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Receptor, Fibroblast Growth Factor, Type 3
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Receptors, Fibroblast Growth Factor / genetics
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Thanatophoric Dysplasia / genetics
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Thanatophoric Dysplasia / metabolism
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Thanatophoric Dysplasia / pathology
Substances
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Collagen Type I
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Receptors, Fibroblast Growth Factor
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FGFR3 protein, human
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Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 3