Osteogenesis Imperfecta. A Translational Approach to Brittle Bone Disease

Content: 
Front-matter, Pages i-iii
Copyright, Page iv
Dedication, Page v
Foreword, Page xv, Roger Smith
Acknowledgments, Page xvii
List of Contributors, Pages xix-xxii, Mona Aglan, Yasemin Alanay, Rand Allingham, Vincent Arlet, Ali A. Baaj, Hans Peter Bächinger, Nick J. Bishop, Adele L. Boskey, Richard Bowen, Feng-Shu Brennen, Barbara Brodsky, Alan Burshell, Peter Byers, José Antonio Caparrós-Martín, Stephanie M. Carleton, Pratap Challa, Felix Y. Chau, Anna L. Chien, Tae-Joon Cho, Julie S. Cohen,  et al.
Introduction to Osteogenesis Imperfecta, Page 3, Jay R. Shapiro, Peter Byers, Francis Glorieux, Paul Sponsellor
Chapter 1 - Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta, Pages 5-14, David Owen Sillence, Shireen R. Lamandé
Chapter 2 - Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology, Pages 15-22, Jay R. Shapiro
Chapter 3 - The Osteogenesis Imperfecta Community and Scientific Research: A Valuable Partnership, Pages 23-27, Tracy Smith Hart, Mary Beth Huber
Chapter 4 - Mineralized Tissue: Histology, Biology and Biochemistry, Pages 31-43, Adele L. Boskey, Stephen B. Doty
Chapter 5 - Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta, Pages 45-56, Neal S. Fedarko
Chapter 6 - The Collagen Folding Machinery: Biosynthesis and Post-Translational Modifications of Collagens, Pages 57-70, Elena Pokidysheva, Kazunori Mizuno, Hans Peter Bächinger
Chapter 7 - Collagen Structure, Folding and Function, Pages 71-84, Elena Makareeva, Sergey Leikin
Chapter 8 - Bone Matrix Proteoglycans in Skeletal Function, Pages 85-95, Vardit Kram, Marian F. Young
Chapter 9 - Patterns of Inheritance in Osteogenesis Imperfecta, Pages 99-101, Julie S. Cohen
Chapter 10 - Osteogenesis Imperfecta Genotypes and Genotype–Phenotype Relationships, Pages 103-112, Raymond Dalgleish
Chapter 11 - Structural Consequences of Glycine Missense Mutations in Osteogenesis Imperfecta, Pages 115-124, Barbara Brodsky, Anton Persikov
Chapter 12 - Haploinsufficiency for Mutations in Type I Collagen Genes: Mechanisms and Clinical Effects, Pages 125-127, Peter H. Byers
Chapter 13 - Sequence Alterations in the Carboxyl-Terminal Propeptide Domain, Pages 129-140, Fransiska Malfait, Sofie Symoens, Anne De Paepe
Chapter 14 - Recessive Osteogenesis Imperfecta Due to Mutations in CRTAP, LEPRE1 and PPIB, Pages 141-150, Erica P. Homan, Brendan Lee, Roy Morello
Chapter 15 - FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome, Pages 151-157, Deborah Krakow, Yasemin Alanay
Chapter 16 - SERPINH1 and Osteogenesis Imperfecta, Pages 159-165, Jay R. Shapiro
Chapter 17 - SERPINF1 as a Cause of Osteogenesis Imperfecta Type VI, Pages 167-172, Kyu Sang Joeng, Monica Grover, Abbhirami Rajagopal, Brendan H. Lee
Chapter 18 - OSX/SP7 Mutations and Osteogenesis Imperfecta, Pages 173-179, José Antonio Caparrós-Martín, Mona Aglan, Samia Temtamy, Víctor Martínez-Glez, María Valencia, Jair Tenorio, Pablo Lapunzina, Víctor Ruiz Pérez
Chapter 19 - BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta, Pages 181-186, José A. Caparrós-Martín, Víctor Martínez-Glez, María Valencia, Mona Aglan, Jair Tenorio, Samia Temtamy, Pablo Lapunzina, Víctor L. Ruiz-Perez
Chapter 20 - Osteogenesis Imperfecta Type V, Pages 187-194, Tae-Joon Cho, Pierre Moffatt
Chapter 21 - Animal Models of Osteogenesis Imperfecta, Pages 197-207, Charlotte L. Phillips, Stephanie M. Carleton, Bettina A. Gentry
Chapter 22 - Transforming Growth Factor Beta and Bone: Lessons Learned from TGFbeta-Related Conditions, Pages 211-216, Bart Loeys
Chapter 23 - Arthrochalasis Type of Ehlers–Danlos Syndrome (EDS Types VIIA and VIIB) and Related Disorders, Pages 217-228, Cecilia Giunta, Beat Steinmann
Chapter 24 - Changes in Bone Density during Development, Pages 231-235, Frank Rauch
Chapter 25 - Bone Histomorphometry, Pages 237-242, Frank Rauch
Chapter 26 - Osteogenesis Imperfecta and Pregnancy, Pages 243-251, Deborah Krakow
Chapter 27 - Differential Diagnosis of Osteogenesis Imperfecta in Children, Pages 253-257, V. Reid Sutton
Chapter 28 - The Differential Diagnosis of Adult Osteogenesis Imperfecta, Pages 259-266, Alan Burshell, Satish Pasala
Chapter 29 - Growth and Growth Hormone Use in Osteogenesis Imperfecta, Pages 267-280, Emily L. Germain-Lee, Douglas J. DiGirolamo, Horacio Plotkin
Chapter 30 - Skin in Osteogenesis Imperfecta, Pages 283-288, Anna L. Chien, Euphemia W. Mu, Sewon Kang
Chapter 31 - Osteogenesis Imperfecta and the Eye, Pages 289-303, Felix Y. Chau, Dana Wallace, Thasarat Vajaranant, Leon Herndon, Paul Lee, Pratap Challa, Rand Allingham, Irene Maumenee
Chapter 32 - Hearing Loss in Osteogenesis Imperfecta, Pages 305-312, Joseph P. Pillion, Felipe Santos, David M. Vernick, Jay Shapiro
Chapter 33 - Oral-Facial Aspects of Osteogenesis Imperfecta, Pages 313-327, Jean-Marc Retrouvey, Stéphane Schwartz, James K. Hartsfield
Chapter 34 - Cardiovascular Disease in Osteogenesis Imperfecta, Pages 329-334, Daniel P. Judge
Chapter 35 - Pulmonary Function in Osteogenesis Imperfecta, Pages 335-342, Robert A. Sandhaus
Chapter 36 - Osteogenesis Imperfecta and Basilar Invagination, Pages 343-348, Kyriakos Papadimitriou, Ali A. Baaj, Jean-Paul Wolinsky
Chapter 37 - Muscle, Tendon and Ligament in Osteogenesis Imperfecta, Pages 349-352, Varun Puvanesarajah, Paul D. Sponseller
Chapter 38 - Osteoarthritis and Other Joint Involvement, Pages 353-358, Bansari Gujar, Marc Hochberg
Chapter 39 - Transient Migratory Osteoporosis in Osteogenesis Imperfecta, Pages 359-370, Jay R. Shapiro
Chapter 40 - Nutrition in Osteogenesis Imperfecta, Pages 371-379, Elisabeth Enagonia
Chapter 41 - Ethical Implications of Osteogenesis Imperfecta across the Lifespan, Pages 381-390, Marilyn E. Coors
Chapter 42 - Osteogenesis Imperfecta and Non-Accidental Trauma, Pages 391-398, Dina J. Zand, P. Leigh Bishop, Kenneth N. Rosenbaum, Eglal Shalaby-Rana
Chapter 43 - Scoliosis and Kyphosis in Osteogenesis Imperfecta, Pages 401-406, Varun Puvanesarajah, Paul D. Sponseller
Chapter 44 - Spinal Fractures, Spondylolysis and Spondylolysthesis, Pages 407-419, Paul W. Esposito, Vincent Arlet
Chapter 45 - Implant Considerations in Long Bones in Osteogenesis Imperfecta, Pages 421-426, François R. Fassier, Marie Gdalevitch
Chapter 46 - Treatment of Fractures and Non-Unions in Children with Osteogenesis Imperfecta, Pages 427-442, Lewis E. Zionts, Richard E. Bowen
Chapter 47 - Pediatric Limb Reconstruction in Osteogenesis Imperfecta, Pages 443-451, Steven L. Frick, Paul D. Sponseller, Arabella Leet
Chapter 48 - Adult Limb Deformity Reconstruction in Osteogenesis Imperfecta, Pages 453-459, Stephen Jacobsen, Paul D. Sponseller
Chapter 49 - Joint Replacement in Patients with Osteogenesis Imperfecta, Pages 461-465, Pierre H.M. Pechon, Simon C. Mears
Chapter 50 - Orthotics and Osteogenesis Imperfecta, Pages 467-470, Michelle Koehler
Chapter 51 - Functional Outcome Measures in Children with Osteogenesis Imperfecta: A Review of the Literature using the ICF and Perspectives for Treatment, Pages 473-483, Raoul H.H. Engelbert, Marco van Brussel, Eugene Rameckers
Chapter 52 - Rehabilitation for Adults with Osteogenesis Imperfecta, Pages 485-491, Melissa K. Trovato, Scott C. Schultz, Christopher Joseph
Chapter 53 - Bisphosphonates, Pages 495-500, Nick J. Bishop, Graham Russell
Chapter 54 - Bisphosphonate Treatment and Related Agents in Children, Pages 501-507, Frank Rauch
Chapter 55 - Osteogenesis Imperfecta: Maintenance of Adult Bone Health, Pages 509-518, Jay R. Shapiro, Feng-Shu Brennen
Chapter 56 - Pharmacologic Treatment of Osteogenesis Imperfecta: New Agents and their Potential Implications for Osteogenesis Imperfecta, Pages 519-525, Eric S. Orwoll, Elizabeth Martin
Chapter 57 - The Potential of Gene and Cell-Based Strategies for the Treatment of Osteogenesis Imperfecta, Pages 529-541, David W. Rowe
Chapter 58 - New Discoveries in Osteogenesis Imperfecta, Pages 543-545, Jay R. Shapiro
Index, Pages 547-555