Osteogenesis Imperfecta

1st Edition

A Translational Approach to Brittle Bone Disease

Editor-in-Chiefs: Jay Shapiro
Editors: Peter Byers Paul Sponseller
Hardcover ISBN: 9780123971654
eBook ISBN: 9780123977892
Imprint: Academic Press
Published Date: 11th September 2013
Page Count: 578
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Institutional Access


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.

Key Features

  • 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 adult
  • Offers 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 OI
  • Discusses 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 future
  • Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI


Biomedical researchers and research clinicians in the fields of endocrinology, orthopedics, pediatrics, rheumatology, and genetics, who study and treat bone diseases

Table of Contents



List of Contributors


Introduction to Osteogenesis Imperfecta

Jay R. Shapiro, Peter Byers, Francis Glorieux and Paul Sponseller

1. Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta

David Owen Sillence and Shireen R. Lamande

2. Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology

Jay R. Shapiro

3. The Osteogenesis Imperfecta Community and Scientific Research: A Valuable Partnership

Tracy Smith Hart and Mary Beth Huber


4. Mineralized Tissue: Histology, Biology and Biochemistry

Adele L. Boskey and Stephen B. Doty

5. Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta

Neal S. Fedarko

6. The Collagen Folding Machinery: Biosynthesis and Post-Translational Modifications of Collagens

Elena Pokidysheva, Kazunori Mizuno and Hans Peter Bächinger

7. Collagen Structure, Folding and Function

Elena Makareeva and Sergey Leikin

8. Bone Matrix Proteoglycans in Skeletal Function

Vardit Kram and Marian F. Young


9. Patterns of Inheritance in Osteogenesis Imperfecta

Julie S. Cohen

10. Osteogenesis Imperfecta Genotypes and Genotype–Phenotype Relationships

Raymond Dalgleish


11. Structural Consequences of Glycine Missense Mutations in Osteogenesis Imperfecta

Barbara Brodsky and Anton Persikov

12. Haploinsufficiency for Mutations in Type I Collagen Genes: Mechanisms


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© Academic Press 2014
Academic Press
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About the Editor-in-Chief

Jay Shapiro

Dr. Jay R. Shapiro is a graduate of Franklin and Marshall College and the Boston University School of Medicine. He serves as Professor in the Department of Physical Medicine and Rehabilitation and Director of the Bone and Osteogenesis Imperfecta Department at the Kennedy Krieger Institute. He served as Director of the General Clinical Research Center at Johns Hopkins University and is on the Medical Advisory Committee of the Osteogenesis Imperfecta Foundation. Dr. Shapiro also served as the Chief for the Bone Team of the National Space Biomedical Research Institute. Dr. Shapiro has specialty interests in endocrine, metabolic and genetic disorders of bone. Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity on the International Space Station (NASA).

Affiliations and Expertise

Director, Osteogenesis Imperfecta Program, Kennedy Krieger Institute; Professor of Medicine, Department of Physical Medicine and Rehabilitation, Johns Hopkins University School of Medicine, Baltimore, MD, USA

About the Editor

Peter Byers

Affiliations and Expertise

Professor of Pathology and of Medicine; Adjunct Professor of Genome Sciences, Department of Genomic Sciences, University of Washington, Seattle, WA, USA

Paul Sponseller

Affiliations and Expertise

Director, Division of Orthopaedics and Chief, Division of Pediatric Orthopaedics Johns Hopkins Children’s Center; Professor of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA


"Shapiro…, Byers, Glorieux, and Sponseller compile 58 chapters by an international group of orthopedists, geneticists, bone specialists, and other physicians and researchers, who describe osteogenesis imperfecta. They address the basic science and clinical practice, as well as future research and its relevance to treatment and care, for basic scientists and clinicians."--Reference & Research Book News, December 2013
"A monumental nearly 600 page textbook about OI has recently been published. This comprehensive reference is a collection of chapters by an international group of physicians and researchers…Their goal was to bring together in one volume the latest information about the biochemistry, genetics, research questions and treatments available to manage OI in children and adults. A special feature is an advanced discussion of surgical techniques applicable to OI."--OI Foundation E-News, September 2013