Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

Copyright © 2002 by Wiley-Liss, Inc.

Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

Editor(s): Peter M. Royce, Beat Steinmann

Published Online: 30 APR 2003

Print ISBN: 9780471251859

Online ISBN: 9780471221920

DOI: 10.1002/0471221929

About this Book

Product Information

About The Product

The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor.  Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals.  Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.

Table of contents

    1. You have free access to this content
      Frontmatter (pages i–xvii)

    1. Research on Collagen in the Author's Laboratory, 1952–1982 (pages 1–11)

      Karl A. Piez

    1. Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept (pages 13–18)

      Victor A. McKusick

  4. Part I: Biology of Extracellular Matrix

    1. Chapter 1.1

      Morphology and Chemical Composition of Connective Tissue: Structure of the Skin and Tendon (pages 19–39)

      Karen A. Holbrook and Lynne T. Smith

    2. Chapter 1.2

      Morphology and Chemical Composition of Connective Tissue: Cartilage (pages 41–65)

      Nicholas P. Morris, Douglas R. Keene and William A. Horton

    3. Chapter 1.3

      Morphology and Chemical Composition of Connective Tissue: Bone (pages 67–120)

      Robert K. Schenk, Willy Hofstetter and Rolf Felix

    4. Chapter 1.4

      Morphology and Chemical Composition of Connective Tissue: The Cardiovascular System (pages 121–144)

      Daniela Quaglino and Ivonne Pasquali Ronchetti

    5. Chapter 1.5

      Morphology and Chemical Composition of Connective Tissue: The Eye (pages 145–157)

      Richard Mayne

    6. Chapter 2.1

      The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix (pages 159–221)

      Cay M. Kielty and Michael E. Grant

    7. Chapter 2.2

      Collagen: Gene Structure (pages 223–248)

      Mon-Li Chu and Darwin J. Prockop

    8. Chapter 3

      Elastin and the Microfibrillar Apparatus (pages 249–269)

      Joel Rosenbloom and William R. Abrams

    9. Chapter 4

      Glycosylated Matrix Proteins (pages 271–291)

      Dick Heinegård, Anders Aspberg, Ahnders Franzén and Pilar Lorenzo

    10. Chapter 5

      Adhesive Glycoproteins (pages 293–328)

      Klaus von der Mark and Lydia Sorokin

    11. Chapter 6

      Keratins (pages 329–341)

      E. Birgitte Lane

    12. Chapter 7

      Extracellular Matrix Degradation (pages 343–384)

      Gillian Murphy and John J. Reynolds

  5. Part II: Heritable Disorders of Connective Tissue

    1. Chapter 8

      Osteogenesis Imperfecta (pages 385–430)

      Peter H. Byers and William G. Cole

    2. Chapter 9

      The Ehlers-Danlos Syndrome (pages 431–523)

      Beat Steinmann, Peter M. Royce and Andrea Superti-Furga

    3. Chapter 10

      Cutis Laxa and Premature Aging Syndromes (pages 525–560)

      Jeffrey M. Davidson and MariaGabriella Giro

    4. Chapter 11

      Pseudoxanthoma Elasticum (pages 561–583)

      Kenneth H. Neldner and Berthold Struk

    5. Chapter 12

      Marfan Syndrome and Other Microfibrillar Disorders (pages 585–626)

      Reed E. Pyeritz and Harry C. Dietz

    6. Chapter 13

      The Homocystinurias (pages 627–650)

      Flemming Skovby and Jan P. Kraus

    7. Chapter 14

      Menkes Disease and the Occipital Horn Syndrome (pages 651–685)

      Nina Horn and Zeynep Tümer

    8. Chapter 15

      Epidermolysis Bullosa (pages 687–725)

      Leena Bruckner-Tuderman

    9. Chapter 16

      Prolidase Deficiency (pages 727–743)

      Peter M. Royce and Beat Steinmann

    10. Chapter 17

      α1 - Antitrypsin Deficiency (pages 745–763)

      Diane Wilson Cox

    11. Chapter 18

      Heritable Forms of Rickets and Osteomalacia (pages 765–787)

      Michael P. Whyte

    12. Chapter 19

      Osteopetrosis (pages 789–807)

      Michael P. Whyte

    13. Chapter 20

      Alkaptonuria (pages 809–825)

      Bert N. La Du

    14. Chapter 21

      Fibrodysplasia Ossificans Progressiva (pages 827–840)

      Frederick S. Kaplan, Eileen M. Shore and J. Michael Connor

    15. Chapter 22.1

      Disorders of Lysosomal Enzymes: General Considerations (pages 841–848)

      Ulrich N. Wiesmann

    16. Chapter 22.2

      Disorders of Lysosomal Enzymes: Clinical Phenotypes (pages 849–899)

      Jules G. Leroy

    17. Chapter 23.1

      Skeletal Dysplasias, Chondrodysplasias: General Concepts and Diagnostic and Management Considerations (pages 901–908)

      William A. Horton and Jacqueline T. Hecht

    18. Chapter 23.2

      Skeletal Dysplasias, Chondrodysplasias: Disorders of Cartilage Matrix Proteins (pages 909–937)

      William A. Horton and Jacqueline T. Hecht

    19. Chapter 23.3

      Skeletal Dysplasias Related to Defects in Sulfate Metabolism (pages 939–960)

      Andrea Superti-Furga

    20. Chapter 23.4

      Skeletal Dysplasias: Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes (pages 961–991)

      Clair A. Francomano and Maximilian Muenke

    21. Chapter 23.5

      Skeletal Dysplasias: Defects in Skeletal Morphogenesis (pages 993–1023)

      Stefan Mundlos and Bjorn R. Olsen

    22. Chapter 24

      Disorders of Keratinization (pages 1025–1068)

      Meral J. Arin, Daniel Hohl and Dennis R. Roop

    23. Chapter 25

      Alport Syndrome (pages 1069–1102)

      Karl Tryggvason and Paula Martin

    24. Chapter 26.1

      Corneal Dystrophies Due to Mutations in the Kerato-Epithelin Gene (βig-h3) (pages 1103–1106)

      Joel Rosenbloom

    25. Chapter 26.2

      Progressive Pseudorheumatoid Dysplasia (pages 1107–1109)

      Wafaa M. Suwairi and Matthew L. Warman

    26. Chapter 26.3

      The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (pages 1111–1114)

      Wafaa M. Suwairi and Matthew L. Warman

    27. Chapter 26.4

      Bruck Syndrome (pages 1115–1117)

      Beat Steinmann and Peter M. Royce

    28. Chapter 26.5

      Osteoporosis-Pseudoglioma Syndrome (pages 1119–1121)

      Beat Steinmann and Peter M. Royce

    29. Chapter 26.6

      Myopathies Due to Defects in Collagen VI (pages 1123–1127)

      Beat Steinmann and Peter M. Royce

    30. Chapter 26.7

      Knobloch Syndrome (pages 1129–1130)

      Beat Steinmann and Peter M. Royce

    1. You have free access to this content
      Appendix I: International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias (pages 1131–1140)

    1. You have free access to this content
      Appendix II: Extracellular Collagen Metabolites in Body Fluids (pages 1141–1160)

      Leila Risteli and Juha Risteli

    1. You have free access to this content
      Index (pages 1161–1201)

SEARCH