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.
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Table of Contents
ForewordAcknowledgments
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
