Connective tissue and its heritable disorders : molecular, genetic, and medical aspects / edited by Peter M. Royce and Beat Steinmann.

Format:

Book

Contributor:

Royce, Peter M.

Steinmann, Beat U.

Language:

English

Subjects (All):

Connective tissues--Diseases--Genetic aspects.

Connective tissues.

Connective tissues--Diseases--Molecular aspects.

Connective Tissue Diseases--genetics.

Connective Tissue--anatomy & histology.

Connective tissues--Diseases.

Medical Subjects:

Connective Tissue Diseases--genetics.

Connective Tissue--anatomy & histology.

Physical Description:

xvii, 1201 pages : illustrations ; 29 cm

Edition:

Second edition.

Place of Publication:

New York : Wiley-Liss, [2002]

Summary:

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.

Contents:

Research on Collagen in the Author's Laboratory, 1952-1982 / Karl A. Piez 1

Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept / Victor A. McKusick 13

Biology of Extracellular Matrix

Chapter 1 Morphology and Chemical Composition of Connective Tissue

Part I Structure of the Skin and Tendon / Karen A. Holbrook, Lynne T. Smith 19

Part II Cartilage / Nicholas P. Morris, Douglas R. Keene, William A. Horton 41

Part III Bone / Robert K. Schenk, Willy Hofstetter, Rolf Felix 67

Part IV The Cardiovascular System / Daniela Quaglino, Ivonne Pasquali Ronchetti 121

Part V The Eye / Richard Mayne 145

Chapter 2 Collagen

Part I The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix / Cay M. Kielty, Michael E. Grant 159

Part II Gene Structure / Mon-Li Chu, Darwin J. Prockop 223

Chapter 3 Elastin and the Microfibrillar Apparatus / Joel Rosenbloom, William R. Abrams 249

Chapter 4 Glycosylated Matrix Proteins / Dick Heinegard, Anders Aspberg, Ahnders Franzen, Pilar Lorenzo 271

Chapter 5 Adhesive Glycoproteins / Klaus von der Mark, Lydia Sorokin 293

Chapter 6 Keratins / E. Birgitte Lane 329

Chapter 7 Extracellular Matrix Degradation / Gillian Murphy, John J. Reynolds 343

Heritable Disorders of Connective Tissue

Chapter 8 Osteogenesis Imperfecta / Peter H. Byers, William G. Cole 385

Chapter 9 The Ehlers-Danlos Syndrome / Beat Steinmann, Peter M. Royce, Andrea Superti-Furga 431

Chapter 10 Cutis Laxa and Premature Aging Syndromes / Jeffrey M. Davidson, MariaGabriella Giro 525

Chapter 11 Pseudoxanthoma Elasticum / Kenneth H. Neldner, Berthold Struk 561

Chapter 12 The Marfan Syndrome and Other Microfibrillar Disorders / Reed E. Pyeritz, Harry C. Dietz 585

Chapter 13 The Homocystinurias / Flemming Skovby, Jan P. Kraus 627

Chapter 14 Menkes Disease and the Occipital Horn Syndrome / Nina Horn, Zeynep Tumer 651

Chapter 15 Epidermolysis Bullosa / Leena Bruckner-Tuderman 687

Chapter 16 Prolidase Deficiency / Peter M. Royce, Beat Steinmann 727

Chapter 17 [alpha subscript 1]-Antitrypsin Deficiency / Diane Wilson Cox 745

Chapter 18 Heritable Forms of Rickets and Osteomalacia / Michael P. Whyte 765

Chapter 19 Osteopetrosis / Michael P. Whyte 789

Chapter 20 Alkaptonuria / Bert N. La Du 809

Chapter 21 Fibrodysplasia Ossificans Progressiva / Frederick S. Kaplan, Eileen M. Shore, J. Michael Connor 827

Chapter 22 Disorders of Lysosomal Enzymes

Part I General Considerations / Ulrich N. Wiesmann 841

Part II Clinical Phenotypes / Jules G. Leroy 849

Chapter 23 Skeletal Dysplasias

Part I Chondrodysplasias: General Concepts and Diagnostic and Management Considerations / William A. Horton, Jacqueline T. Hecht 901

Part II Chondrodysplasias: Disorders of Cartilage Matrix Proteins / William A. Horton, Jacqueline T. Hecht 909

Part III Skeletal Dysplasias Related to Defects in Sulfate Metabolism / Andrea Superti-Furga 939

Part IV Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes / Clair A. Francomano, Maximilian Muenke 961

Part V Defects in Skeletal Morphogenesis / Stefan Mundlos, Bjorn R. Olsen 993

Chapter 24 Disorders of Keratinization / Meral J. Arin, Daniel Hohl, Dennis R. Roop 1025

Chapter 25 Alport Syndrome / Karl Tryggvason, Paula Martin 1069

Chapter 26 Miscellaneous Disorders

Part I Corneal Dystrophies Due to Mutations in the Kerato-Epithelin Gene ([beta]ig-h3) / Joel Rosenbloom 1103

Part II Progressive Pseudorheumatoid Dysplasia / Wafaa M. Suwairi, Matthew L. Warman 1107

Part III The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome / Wafaa M. Suwairi, Matthew L. Warman 1111

Part IV Bruck Syndrome / Beat Steinmann, Peter M. Royce 1115

Part V Osteoporosis-Pseudoglioma Syndrome / Beat Steinmann, Peter M. Royce 1119

Part VI Myopathies Due to Defects in Collagen VI / Beat Steinmann, Peter M. Royce 1123

Part VII Knobloch Syndrome / Beat Steinmann, Peter M. Royce 1129

Appendix I International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias 1131

Appendix II Extracellular Collagen Metabolites in Body Fluids / Leila Risteli, Juha Risteli 1141.

Notes:

Includes bibliographical references and index.

ISBN:

0471251852

OCLC:

47137295