Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease

Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI.

Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adultOffers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OIDiscusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the futureProvides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI

Foreword

Acknowledgments

List of Contributors

Section 1: INTRODUCTION

Section 2: BONE BIOLOGY, STRUCTURE AND BIOCHEMISTRY

Section 3: CLINICAL AND MOLECULAR GENETICS OF OSTEOGENESIS IMPERFECTA

Section 4: COL1A1 AND COL1A2 MUTATIONS

Section 5: ANIMAL MODELS OF OSTEOGENESIS IMPERFECTA

Section 6: BRITTLE BONE OVERLAP PHENOTYPES: TGF-BETA MUTATIONS AND BONE

Section 7: CLINICAL ASPECTS OF OSTEOGENESIS IMPERFECTA

Section 8: ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA

Chapter 9: ORTHOPEDICS

Section 10: PHYSICAL MEDICINE AND REHABILITATION

Section 11: PHARMACOLOGIC TREATMENT OF OSTEOGENESIS IMPERFECTA

Section 12: GENETIC APPROACH TO TREATMENT OF OSTEOGENESIS IMPERFECTA

Index