eBook Osteogenesis Imperfecta, 1st Edition

  • Published By:
  • ISBN-10: 0123977894
  • ISBN-13: 9780123977892
  • DDC: 616.716
  • Grade Level Range: College Freshman - College Senior
  • 578 Pages | eBook
  • Original Copyright 2013 | Published/Released June 2014
  • This publication's content originally published in print form: 2013
  • Price:  Sign in for price



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.

Table of Contents

Cover Page.
Half Title Page.
Title Page.
Copyright Page.
List of Contributors.
1: Introduction.
2: Introduction to Osteogenesis Imperfecta.
3: Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta.
4: Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology.
5: The Osteogenesis Imperfecta Community and Scientific Research: A Valuable Partnership.
6: Bone Biology, Structure and Biochemistry.
7: Mineralized Tissue: Histology, Biology and Biochemistry.
8: Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta.
9: The Collagen Folding Machinery: Biosynthesis and Post-Translational Modifications of Collagens.
10: Collagen Structure, Folding and Function.
11: Bone Matrix Proteoglycans in Skeletal Function.
12: Clinical and Molecular Genetics of Osteogenesis Imperfecta.
13: Patterns of Inheritance in Osteogenesis Imperfecta.
14: Osteogenesis Imperfecta Genotypes and Genotype–phenotype Relationships.
15: COL1A1 and COL1A2 Mutations.
16: Structural Consequences of Glycine Missense Mutations in Osteogenesis Imperfecta.
17: Haploinsufficiency for Mutations in Type I Collagen Genes: Mechanisms and Clinical Effects.
18: Sequence Alterations in the Carboxyl-Terminal Propeptide Domain.
19: Recessive Osteogenesis Imperfecta Due to Mutations in CRTAP, LEPRE1 and PPIB.
20: FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome.
21: Serpinh1 and Osteogenesis Imperfecta.
22: Serpinf1 as a Cause of Osteogenesis Imperfecta Type VI.
23: Osx/Sp7 Mutations and Osteogenesis Imperfecta.
24: Bmp1 Mutations in Autosomal Recessive Osteogenesis Imperfecta.
25: Osteogenesis Imperfecta Type V.
26: Animal Models of Osteogenesis Imperfecta.
27: Animal Models of Osteogenesis Imperfecta.
28: Brittle Bone Overlap Phenotypes: TGF-Beta Mutations and Bone.
29: Transforming Growth Factor Beta and Bone: Lessons Learned from Tgfbeta-Related Conditions.
30: Arthrochalasis Type of Ehlers–danlos Syndrome (Eds Types viia and viib) and Related Disorders.
31: Clinical Aspects of Osteogenesis Imperfecta.
32: Changes in Bone Density during Development.
33: Bone Histomorphometry.
34: Osteogenesis Imperfecta and Pregnancy.
35: Differential Diagnosis of Osteogenesis Imperfecta in Children.
36: The Differential Diagnosis of Adult Osteogenesis Imperfecta.
37: Growth and Growth Hormone Use in Osteogenesis Imperfecta.
38: Organ Involvement in Osteogenesis Imperfecta.
39: Skin in Osteogenesis Imperfecta.
40: Osteogenesis Imperfecta and the Eye.
41: Hearing Loss in Osteogenesis Imperfecta.
42: Oral-Facial Aspects of Osteogenesis Imperfecta.
43: Cardiovascular Disease in Osteogenesis Imperfecta.
44: Pulmonary Function in Osteogenesis Imperfecta.
45: Osteogenesis Imperfecta and Basilar Invagination.
46: Muscle, Tendon and Ligament in Osteogenesis Imperfecta.
47: Osteoarthritis and Other Joint Involvement.
48: Transient Migratory Osteoporosis in Osteogenesis Imperfecta.
49: Nutrition in Osteogenesis Imperfecta.
50: Ethical Implications of Osteogenesis Imperfecta across the Lifespan.
51: Osteogenesis Imperfecta and Non-Accidental Trauma.
52: Orthopedics.
53: Scoliosis and Kyphosis in Osteogenesis Imperfecta.
54: Spinal Fractures, Spondylolysis and Spondylolysthesis.
55: Implant Considerations in Long Bones in Osteogenesis Imperfecta.
56: Treatment of Fractures and Non-Unions in Children with Osteogenesis Imperfecta.
57: Pediatric Limb Reconstruction in Osteogenesis Imperfecta.
58: Adult Limb Deformity Reconstruction in Osteogenesis Imperfecta.
59: Joint Replacement in Patients with Osteogenesis Imperfecta.
60: Orthotics and Osteogenesis Imperfecta.
61: Physical Medicine and Rehabilitation.
62: Functional Outcome Measures in Children with Osteogenesis Imperfecta*.
63: Rehabilitation for Adults with Osteogenesis Imperfecta.
64: Pharmacologic Treatment of Osteogenesis Imperfecta.
65: Bisphosphonates.
66: Bisphosphonate Treatment and Related Agents in Children.
67: Osteogenesis Imperfecta: Maintenance of Adult Bone Health.
68: Pharmacologic Treatment of Osteogenesis Imperfecta: New Agents and Their Potential Implications for Osteogenesis Imperfecta.
69: Genetic Approach to Treatment of Osteogenesis Imperfecta.
70: The Potential of Gene and Cell-Based Strategies for the Treatment of Osteogenesis Imperfecta.
71: New Discoveries in Osteogenesis Imperfecta.