Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 85-100 , March 2008

Osteogenesis imperfecta

  • Francis H. Glorieux (Professor of Surgery, Pediatrics and Human Genetics)

      Affiliations

    • Corresponding Author InformationTel.: +1 514 842 5964; Fax: +1 514 842 5581.

References 

  1. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363:1377–1385
  2. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. Journal of Medical Genetics. 1979;16:101–116
  3. Byers PH, Steiner RD. Osteogenesis imperfecta. Annual Review of Medicine. 1992;43:269–282
  4. Prockop DJ, Colige A, Helminen H, et al. Mutations in type 1 procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies. Journal of Bone and Mineral Research. 1993;8(Suppl 2):S489–S492
  5. Aitchison K, Ogilvie D, Honeyman M, et al. Homozygous osteogenesis imperfecta unlinked to collagen I genes. Human Genetics. 1988;78:233–236
  6. Wallis GA, Sykes B, Byers PH, et al. Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. Journal of Medical Genetics. 1993;30:492–496
  7. Labuda M, Morissette J, Ward LM, et al. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone. 2002;31:19–25
  8. Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. Journal of Bone and Mineral Research. 2000;15:1650–1658
  9. Glorieux FH, Ward LM, Rauch F, et al. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. Journal of Bone and Mineral Research. 2002;17:30–38
  10. Ward LM, Rauch F, Travers R, et al. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. 2002;31:12–18
  11. McAllion SJ, Paterson CR. Causes of death in osteogenesis imperfecta. Journal of Clinical Pathology. 1996;49:627–630
  12. Paterson CR, Ogston SA, Henry RM. Life expectancy in osteogenesis imperfecta. BMJ. 1996;312:351
  13. Rieker O, Kreitner KF, Karbowski A. Hyperplastic callus formation in osteogenesis imperfecta: CT and MRI findings. European Radiology. 1998;8:1137–1139
  14. Dobrocky I, Seidl G, Grill F. MRI and CT features of hyperplastic callus in osteogenesis imperfecta tarda. European Radiology. 1999;9:665–668
  15. Petersen K, Wetzel WE. Recent findings in classification of osteogenesis imperfecta by means of existing dental symptoms. ASDC Journal of Dentistry for Children. 1998;65:305–309
  16. Lygidakis NA, Smith R, Oulis CJ. Scanning electron microscopy of teeth in osteogenesis imperfecta type I. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 1996;81:567–572
  17. Lund AM, Jensen BL, Nielsen LA, Skovby F. Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism. Journal of Craniofacial Genetics and Developmental Biology. 1998;18:30–37
  18. Malmgren B, Norgren S. Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontologica Scandinavica. 2002;60:65–71
  19. Pedersen U. Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients. Scandinavian Audiology. 1984;13:67–74
  20. Kuurila K, Grenman R, Johansson R, Kaitila I. Hearing loss in children with osteogenesis imperfecta. European Journal of Pediatrics. 2000;159:515–519
  21. Paterson CR, Monk EA, McAllion SJ. How common is hearing impairment in osteogenesis imperfecta?. The Journal of Laryngology and Otology. 2001;115:280–282
  22. Kuurila K, Kaitila I, Johansson R, Grenman R. Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. The Annals of Otology, Rhinology, and Laryngology. 2002;111:939–946
  23. Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. American Journal of Human Genetics. 1990;46:975–982
  24. Korkko J, Ala-Kokko L, De Paepe A, et al. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. American Journal of Human Genetics. 1998;62:98–110
  25. Marlowe A, Pepin MG, Byers PH. Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. Journal of Medical Genetics. 2002;39:382–386
  26. McPherson E, Clemens M. Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. American Journal of Medical Genetics. 1997;70:28–31
  27. Beighton P, Winship I, Behari D. The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome. Clinical Genetics. 1985;28:69–75
  28. Cundy T, Hegde M, Naot D, et al. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Human Molecular Genetics. 2002;11:2119–2127
  29. Whyte MP, Obrecht SE, Finnegan PM, et al. Osteoprotegerin deficiency and juvenile Paget's disease. The New England Journal of Medicine. 2002;347:175–184
  30. Smith R. Idiopathic juvenile osteoporosis: experience of twenty-one patients. British Journal of Rheumatology. 1995;34:68–77
  31. Nimkin K, Kleinman PK. Imaging of child abuse. Radiologic Clinics of North America. 2001;39:843–864
  32. Moore MS, Minch CM, Kruse RW, et al. The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. The American Journal of Orthopedics. 1998;27:797–801
  33. Miller ME, Hangartner TN. Bone density measurements by computed tomography in osteogenesis imperfecta type I. Osteoporosis International. 1999;9:427–432
  34. Kadler KE, Holmes DF, Trotter JA, Chapman JA. Collagen fibril formation. The Biochemical Journal. 1996;316:1–11
  35. Byers PH. Osteogenesis imperfecta: perspectives and opportunities. Current Opinion in Pediatrics. 2000;12:603–609
  36. Willing MC, Deschenes SP, Slayton RL, Roberts EJ. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. American Journal of Human Genetics. 1996;59:799–809
  37. Byers PH. Killing the messenger: new insights into nonsense-mediated mRNA decay. The Journal of Clinical Investigation. 2002;109:3–6
  38. Sarafova AP, Choi H, Forlino A, et al. Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. Human Mutation. 1998;11:395–403
  39. Bank RA, Robins SP, Wijmenga C, et al. Defective collagen crosslinking in bone, but not in ligament or in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proceedings of the National Academy of Sciences of the United States of America. 1999;96:1054–1058
  40. Cabral WA, Chernoff EJ, Marini JC. G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix. Molecular Genetics and Metabolism. 2001;72:326–335
  41. Cabral WA, Fertala A, Green LK, et al. Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology. The Journal of Biological Chemistry. 2002;277:4215–4222
  42. Galicka A, Wolczynski S, Gindzienski A. Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. The Journal of Pathology. 2002;196:235–237
  43. Mundlos S, Chan D, Weng YM, et al. Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix. The Journal of Biological Chemistry. 1996;271:21068–21074
  44. Fedarko NS, Robey PG, Vetter UK. Extracellular matrix stoichiometry in osteoblasts from patients with osteogenesis imperfecta. Journal of Bone and Mineral Research. 1995;10:1122–1129
  45. Fedarko NS, Sponseller PD, Shapiro JR. Long-term extracellular matrix metabolism by cultured human osteogenesis imperfecta osteoblasts. Journal of Bone and Mineral Research. 1996;11:800–805
  46. Grzesik WJ, Frazier CR, Shapiro JR, et al. Age-related changes in human bone proteoglycan structure: impact of osteogenesis imperfecta. The Journal of Biological Chemistry. 2002;6:6
  47. Morello R, Bertin TK, Chen Y, et al. CRTAP is required for prolyl 3 hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006;127:291–304
  48. Cabral WA, Chang W, Barnes AM, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nature Genetics. 2007;39:359–365
  49. Boyde A, Travers R, Glorieux FH, Jones SJ. The mineralization density of iliac crest bone from children with osteogenesis imperfecta. Calcified Tissue International. 1999;64:185–190
  50. Jepsen KJ, Schaffler MB, Kuhn JL, et al. Type I collagen mutation alters the strength and fatigue behavior of Mov13 cortical tissue. Journal of Biomechanics. 1997;30:1141–1147
  51. Rauch F, Travers R, Parfitt AM, Glorieux FH. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone. 2000;26:581–589
  52. Engelbert RH, Pruijs HE, Beemer FA, Helders PJ. Osteogenesis imperfecta in childhood: treatment strategies. Archives of Physical Medicine and Rehabilitation. 1998;79:1590–1594
  53. Zeitlin L, Fassier F, Glorieux FH. Modern approach to children with osteogenesis imperfecta. Journal of Pediatric Orthopaedics. Part B. 2003;12:77–87
  54. Gerber LH, Binder H, Berry R, et al. Effects of withdrawal of bracing in matched pairs of children with osteogenesis imperfecta. Archives of Physical Medicine and Rehabilitation. 1998;79:46–51
  55. Wilkinson JM, Scott BW, Clarke AM, Bell MJ. Surgical stabilisation of the lower limb in osteogenesis imperfecta using the Sheffield Telescopic Intramedullary Rod System. The Journal of Bone and Joint Surgery. British Volume. 1998;80:999–1004
  56. Devogelaer JP, Malghem J, Maldague B, Nagant de Deuxchaisnes C. Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta. Skeletal Radiology. 1987;16:360–363
  57. Glorieux FH, Bishop NJ, Plotkin H, et al. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. The New England Journal of Medicine. 1998;339:947–952
  58. Rauch F, Glorieux FH. Bisphosphonate treatment in osteogenesis imperfecta: which drug, for whom, for how long?. Annals of Medicine. 2005;37:295–302
  59. Astrom E, Soderhall S. Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. Archives of Disease in Childhood. 2002;86:356–364
  60. Rauch F, Plotkin H, Zeitlin L, Glorieux FH. Bone mass, size and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy. Journal of Bone and Mineral Research. 2003;18:610–614
  61. Arikoski P, Silverwood B, Tillmann V, Bishop NJ. Intravenous pamidronate treatment in children with moderate to severe osteogenesis imperfecta: assessment of indices of dual-energy X-ray absorptiometry and bone metabolic markers during the first year of therapy. Bone. 2004;34:539–546
  62. Munns CF, Rauch F, Travers R, Glorieux FH. Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome. Journal of Bone and Mineral Research. 2005;20:1235–1243
  63. Rauch F, Travers R, Plotkin H, Glorieux FH. The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. The Journal of Clinical Investigation. 2002;110:1293–1299
  64. Zeitlin L, Rauch F, Plotkin H, Glorieux FH. Height and weight development during long-term therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III and IV. Pediatrics. 2003;111:1030–1036
  65. Adami S, Gatti D, Colapietro F, et al. Intravenous neridronate in adults with osteogenesis imperfecta. Journal of Bone and Mineral Research. 2003;18:126–130
  66. Maasalu K, Haviko T, Martson A. Treatment of children with osteogenesis imperfecta in Estonia. Acta Paediatrica. 2003;92:452–455
  67. Glorieux FH, Rauch F, Ward LM, et al. Alendronate in the treatment of pediatric osteogenesis imperfecta. Journal of Bone and Mineral Research. 2004;19:S12
  68. Sakkers R, Kok D, Engelbert R, et al. Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study. Lancet. 2004;363:1427–1431
  69. Rauch F, Travers R, Munns C, Glorieux FH. Sclerotic metaphyseal lines in a child treated with pamidronate: histomorphometric analysis. Journal of Bone and Mineral Research. 2004;19:1191–1193
  70. Leonard MB. Assessment of bone health in children and adolescents with cancer: promises and pitfalls of current techniques. Medical and Pediatric Oncology. 2003;41:198–207
  71. Fewtrell MS. Bone densitometry in children assessed by dual x ray absorptiometry: uses and pitfalls. Archives of Disease in Childhood. 2003;88:795–798
  72. Shapiro JR, McCarthy EF, Rossiter K, et al. The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta. Calcified Tissue International. 2003;72:103–112
  73. Rauch F, Travers R, Glorieux FH. Pamidronate in children with osteogenesis imperfecta: histomorphometric effects of long-term therapy. The Journal of Clinical Endocrinology and Metabolism. 2006;91:511–516
  74. Rauch F, Plotkin H, Travers R, et al. Osteogenesis imperfecta types I, III and IV: effect of pamidronate therapy on bone and mineral metabolism. The Journal of Clinical Endocrinology and Metabolism. 2003;88:986–992
  75. Whyte MP, Wenkert D, Clements KL, et al. Bisphosphonate-induced osteopetrosis. The New England Journal of Medicine. 2003;349:457–463
  76. Munns CF, Rauch F, Zeitlin L, et al. Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate. Journal of Bone and Mineral Research. 2004;19:1779–1786
  77. Munns CF, Rauch F, Ward LM, Glorieux FH. Maternal and fetal outcome following long term pamidronate treatment before conception: a report of two cases. Journal of Bone and Mineral Research. 2004;19:1742–1745
  78. Rauch F, Munns C, Land C, Glorieux FH. Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. The Journal of Clinical Endocrinology and Metabolism. 2006;91:1268–1274
  79. Rauch F, Cornibert S, Cheung M, Glorieux FH. Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta. Bone. 2007;40:821–827
  80. Kruse HP, Kuhlencordt F. On an attempt to treat primary and secondary osteoporosis with human growth hormone. Hormone and Metabolic Research. 1975;7:488–491
  81. Antoniazzi F, Bertoldo F, Mottes M, et al. Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. The Journal of Pediatrics. 1996;129:432–439
  82. Vieira NE, Marini JC, Hopkins E, et al. Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV. Bone. 1999;25:501–505
  83. Marini JC, Hopkins E, Glorieux FH, et al. Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen. Journal of Bone and Mineral Research. 2003;18:237–243
  84. Neer RM, Arnaud CD, Zanchetta JR, et al. Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis. The New England Journal of Medicine. 2001;344:1434–1441
  85. Vahle JL, Sato M, Long GG, et al. Skeletal changes in rats given daily subcutaneous injections of recombinant human parathyroid hormone (1-34) for 2 years and relevance to human safety. Toxicologic Pathology. 2002;30:312–321
  86. Kuijpers G, Schneider B, Stadel B, Colman E. Recombinant human parathyroid hormone. Preclinical data on rat osteosarcoma were not dismissed. BMJ. 2002;324:1218
  87. Bianco P, Gehron Robey P. Marrow stromal stem cells. The Journal of Clinical Investigation. 2000;105:1663–1668
  88. Horwitz EM, Prockop DJ, Fitzpatrick LA, et al. Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nature Medicine. 1999;5:309–313
  89. Horwitz EM, Prockop DJ, Gordon PL, et al. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood. 2001;97:1227–1231
  90. Gerson SL. Mesenchymal stem cells: no longer second class marrow citizens. Nature Medicine. 1999;5:262–264
  91. Marini JC. Osteogenesis imperfecta calls for caution. Nature Medicine. 1999;5:466–467
  92. Bishop NJ. Osteogenesis imperfecta calls for caution. Nature Medicine. 1999;5:466–467
  93. Smith R. Severe osteogenesis imperfecta: new therapeutic options?. BMJ. 2001;322:63–64
  94. Forlino A, Marini JC. Osteogenesis imperfecta: prospects for molecular therapeutics. Molecular Genetics and Metabolism. 2000;71:225–232
  95. Dawson PA, Marini JC. Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts. Nucleic Acids Research. 2000;28:4013–4020
  96. Toudjarska I, Kilpatrick MW, Niu J, et al. Delivery of a hammerhead ribozyme specifically downregulates mutant type I collagen mRNA in a murine model of osteogenesis imperfecta. Antisense & Nucleic Acid Drug Development. 2001;11:341–346
  97. Millington-Ward S, Allers C, Tuohy G, et al. Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta. Human Molecular Genetics. 2002;11:2201–2206
  98. Doudna JA, Cech TR. The chemical repertoire of natural ribozymes. Nature. 2002;418:222–228
  99. Liu P, Kalajzic I, Stover ML, et al. Human bone marrow stromal cells are efficiently transduced by vesicular stomatitis virus-pseudotyped retrovectors without affecting subsequent osteoblastic differentiation. Bone. 2001;29:331–335

PII: S1521-6942(07)00145-3

doi: 10.1016/j.berh.2007.12.012

Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 85-100 , March 2008