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| Preface | |
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| Acknowledgments | |
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| Preface to the First Edition | |
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| Contributors | |
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| Introduction | |
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| Research on Collagen in the Author's Laboratory, 1952-1982 | |
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| Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept | |
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| Biology of Extracellular Matrix | |
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| Morphology and Chemical Composition of Connective Tissue | |
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| Structure of the Skin and Tendon | |
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| Cartilage | |
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| Bone | |
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| The Cardiovascular System | |
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| The Eye | |
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| Collagen | |
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| The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix | |
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| Gene Structure | |
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| Elastin and the Microfibrillar Apparatus | |
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| Glycosylated Matrix Proteins | |
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| Adhesive Glycoproteins | |
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| Keratins | |
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| Extracellular Matrix Degradation | |
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| Heritable Disorders of Connective Tissue | |
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| Osteogenesis Imperfecta | |
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| The Ehlers-Danlos Syndrome | |
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| Cutis Laxa and Premature Aging Syndromes | |
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| Pseudoxanthoma Elasticum | |
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| The Marfan Syndrome and Other Microfibrillar Disorders | |
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| The Homocystinurias | |
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| Menkes Disease and the Occipital Horn Syndrome | |
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| Epidermolysis Bullosa | |
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| Prolidase Deficiency | |
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| [alpha subscript 1]-Antitrypsin Deficiency | |
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| Heritable Forms of Rickets and Osteomalacia | |
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| Osteopetrosis | |
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| Alkaptonuria | |
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| Fibrodysplasia Ossificans Progressiva | |
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| Disorders of Lysosomal Enzymes | |
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| General Considerations | |
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| Clinical Phenotypes | |
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| Skeletal Dysplasias | |
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| Chondrodysplasias: General Concepts and Diagnostic and Management Considerations | |
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| Chondrodysplasias: Disorders of Cartilage Matrix Proteins | |
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| Skeletal Dysplasias Related to Defects in Sulfate Metabolism | |
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| Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes | |
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| Defects in Skeletal Morphogenesis | |
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| Disorders of Keratinization | |
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| Alport Syndrome | |
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| Miscellaneous Disorders | |
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| Corneal Dystrophies Due to Mutations in the Kerato-Epithelin Gene ([beta]ig-h3) | |
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| Progressive Pseudorheumatoid Dysplasia | |
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| The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome | |
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| Bruck Syndrome | |
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| Osteoporosis-Pseudoglioma Syndrome | |
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| Myopathies Due to Defects in Collagen VI | |
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| Knobloch Syndrome | |
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| International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias | |
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| Extracellular Collagen Metabolites in Body Fluids | |
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| Index | |