Clin Osteol 2017; 22(3): 98-108

Osteogenesis imperfecta - the state of the artReview articles

M. Bayer

Osteogenesis imperfecta refers a group of genetically determined disorders, resulting in brittle bones. This condition is mostly caused by mutations in the genes encoding type I collagen. Knowledge about various forms of the disorder, its heritability and treatment options has considerably increased during recent years. This review should provide state-of-theart information about this condition in children.

Keywords: osteogenesis imperfecta, children, symptoms, diagnosis, therapy

Published: December 11, 2017  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Bayer M. Osteogenesis imperfecta - the state of the art. Osteologický bulletin. 2017;22(3):98-108.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. Imbert L, Aurégan JC, Pernelle K, Hoc T. Microstructure and com­ pressive mechanical properties of cortical bone in children with osteo­ genesis imperfecta treated with bisphosphonates compared with heal­ thy children. J Mech Behav Biomed Mater 2015;46:261-270. Go to original source...
    2. Marini JC, Reich A, Smith SM. Osteogenesis imperfecta due to muta­ tions in non-collagenous genes: lessons in the biology of bone forma­ tion. Curr Opin Pediatr 2014;26(4):500-507. Go to original source...
    3. Li H, Jiang X, Delaney J et al. Immature osteoblast lineage cells incre­ ase osteoclastogenesis in osteogenesis imperfecta murine. Am J Pathol 2010;176(5):2405-2413. Go to original source...
    4. Vanleene M, Porter A, Guillot PV et al. Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice. Bone 2012;50(6):1317-1323. Go to original source...
    5. Fratzl-Zelman N, Morello R, Lee B et al. CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. Bone 2010;46(3): 820-826. Go to original source...
    6. Vranka JA, Pokidysheva E, Hayashi L et al. Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as ten­ dons, skin and bones. J Biol Chem 2010;285(22):17253-17262. Go to original source...
    7. Van Dijk FS, Nesbitt IM, Zwikstra EH. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 2009;85(4):521-527. Go to original source...
    8. Pyott SM, Schwarze U, Christiansen HE et al. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in pe­ rinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet 2011;20(8):1595-1609. Go to original source...
    9. Bardai G, Moffatt P, Glorieux FH, Rauch F. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. Osteoporos Int 2016;27(12): 3607-3613. Go to original source...
    10. Parker MJ, Deshpande C, Rankin J et al. Type 1 collagenopathy pre­ senting with a Russell-Silver phenotype. Am J Med Genet A 2011; 155(6):1414-1418. Go to original source...
    11. Barnes AM, Duncan G, Weis M et al. Kuskokwim syndrome, a reces­ sive congenital contracture disorder, Extends the phenotype of FKBP10 mutations. Hum Mutat 2013; 34(9):1279-1288. Go to original source...
    12. Schwarze U, Cundy T, Pyott SM et al. Mutations in FKBP10, which re­ sult in Bruck syndrome and recessive forms of osteogenesis imperfec­ ta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet 2013;22(1):1-17. Go to original source...
    13. Kamoun-Goldrat A, Pannier S, Huber C et al. A new osteogenesis im­ perfecta with improvement over time maps to 11q. Am J Med Genet A 2008;146A/14/:1807-1814. Go to original source...
    14. Lindert U, Cabral WA, Ausavarat S et al. MBTPS2 mutations cause de­ fective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nat Commun 2016;7:11920. Go to original source...
    15. Hoyer-Kuhn H, Hobing L, Cassens J et al. Children with severe osteo­ genesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels. J Udiatr Endocrinol Metab 2016;29(7): 813-818. Go to original source...
    16. Bellary SS, Steinberg A, Mirzayan N et al. Wormian bones: A review. Clin Anat 2013;26(8):922-927. Go to original source...
    17. Semler O, Cheung MS, Glorieux, FH, Rauch F. Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype. Am J Med Genet A 2010;152A(7):1681-1687. Go to original source...
    18. Evereklioglu C, Madenci E, Bayazit YA et al. Central corneal thickness is lower in osteogenesis imperfecta and negatively correlates with the presence of blue sclera. Ophthalmic Physiol Opt 2002;22(6):511-515. Go to original source...
    19. Kamoun-Goldrat A, Ginisty D, Le Merrer M. Effects of bisphospho­ nates on tooth eruption in children with osteogenesis imperfecta. Eur J Oral Sci 2008;116(3):195-198. Go to original source...
    20. Malmgren B, Andersson K, Lindahl K et al. Tooth agenesis in osteo­ genesis imperfecta related to mutations in the collagen type I genes. Oral Dis 2017;23(1):42-49. Go to original source...
    21. Rauch F, Lalic L, Roughley P, Glorieux FH. Genotype-phenotype cor­ relations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet 2010;18(6): 642-647. Go to original source...
    22. Anissipour AK, Hammerberg KW, Caudill A et al. Behavior of sco­ liosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am 2014;96(3):237-243. Go to original source...
    23. Caudill A, Flanagan A, Hassani S et al. Ankle strength and functional limitations in children and adolescents with type I osteogenesis imper­ fecta. Pediatr Phys Ther 2010;22(3):288-295. Go to original source...
    24. Malfait F, Symoens S, Goemans N et al. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syn­ drome. Orphanet J Rare Dis 2013;8(1):78. Go to original source...
    25. Bonita RE, Cohen IS, Berko BA. Valvular heart disease in osteogene­ sis imperfecta: presentation of a case and review of the literature. Echocardiography 2010;27(1):69-73. Go to original source...
    26. Ashournia H, Johansen FT, Folkestad L et al. Heart disease in patients with osteogenesis imperfecta - A systematic review. Int J Cardiol 2015; 196:149-157. Go to original source...
    27. Radunovic Z, Steine K. Prevalence of cardiovascular disease and car­ diac symptoms: left and right ventricular function in adults with osteo­ genesis imperfecta. Can J Cardiol 2015;31(11):1386-1392. Go to original source...
    28. Folkestad L, Hald JD, Gram J et al. Cardiovascular disease in patients with osteogenesis imperfecta - a nationwide, register-based cohort stu­ dy. Int J Cardiol 2016;225:250-257. Go to original source...
    29. Santos F, McCall AA, Chien W, Merchant S. Otopathology in Osteo­ genesis Imperfecta. Otol Neurotol 2012;33(9):1562-1566. Go to original source...
    30. Swinnen FK, Coucke PJ, De Paepe AM et al. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype. Orphanet J Rare Dis 2011;6:88. Go to original source...
    31. Pillion JP, Shapiro I. Audiological findings in osteogenesis imperfec­ ta. J Am Acad Audiol 2008;19(8):595-601. Go to original source...
    32. Arponen H, Mäkitie O, Haukka J et al. Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta. J Bone Miner Res 2012;27(5):1142-1149. Go to original source...
    33. Arponen H, Vuorimies I, Haukka J et al. Cranial base pathology in pe­ diatric osteogenesis imperfecta patients treated with bisphosphonates. J Neurosurg Pediatr 2015;15(3):313-320. Go to original source...
    34. Cheung MS, Arponen H, Roughley P et al. Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants. J Bone Miner Res 2011;26(2):405-413. Go to original source...
    35. Ibrahim AG, Crockard HA Basilar impression and osteogenesis im­ perfecta: a 21-year retrospective review of outcomes in 20 patients. J Neurosurg Spine 2007;7(6):594-600. Go to original source...
    36. Silence DO, Senn A, Danks DM. Genetic heterogeneity in osteogene­ sis imperfecta. J Med Genet 1979;16(2):101-116. Go to original source...
    37. Trejo P, Rauch F. Osteogenesis imperfecta in children and adoles­ cents - new developments in diagnosis and treatment. Osteoporos Int 2016;27:3427-3437. Go to original source...
    38. Bregou Bourgeois A, Aubry-Rozier B, Bonafé L et al. Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives. Swiss Med Wkly. 2016;146:w14322. Go to original source...
    39. Glorieux FH, Rauch F, Plotkin H et al. Type V osteogenesis imperfec­ ta: a new form of brittle bone disease. J Bone Miner Res 2000;15(9): 1650-1658. Go to original source...
    40. Balasubramanian M, Parker MJ, Dalton A et al. Genotype-phenotype study in type V osteogenesis imperfecta. Clin Dysmorphol 2013;22(3): 93-101. Go to original source...
    41. Arundel P, Offiah A, Bishop NJ. Evolution of the radiographic appea­ rance of the metaphyses over the first year of life in type V osteogene­ sis imperfecta: clues to pathogenesis. J Bone Miner Res 2011;26(4): 894-898. Go to original source...
    42. Diacinti D, Pisani D, D'Avanzo M et al. Reliability of vertebral fractu­ res assessment (VFA) in children with osteogenesis imperfecta. Calcif Tissue Int 2015;96(4):307-312. Go to original source...
    43. Astrom E, Magnusson P, Eksborg S, Soderhäll S. Biochemical bone markers in the assessment and pamidronate treatment of children and adolescents with osteogenesis imperfekta. Acta Paediatr 2010;99(12): 1834-1840. Go to original source...
    44. Singh Kocher M, Dichtel L. Osteogenesis imperfecta misdiagnosed as child abuse. J Pediatr Orthop B 2011;20(6):440-443. Go to original source...
    45. Zarate YA, Clingenpeel R, Sellars EA, et al. COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for po­ tential child abuse. Am J Med Genet A 2016;170(7):1858-1862. Go to original source...
    46. Pyott SM, Tran TT, Leistritz DF et al. WNT1 mutations in families af­ fected by moderately severe and progressive recessive osteogenesis im­ perfecta. Am J Hum Genet 2013;92(4):590-597. Go to original source...
    47. Rauch F, Fahiminiya S, Majewski J et al. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. Am J Hum Genet 2015;96(3):425-431. Go to original source...
    48. Ha-Vinh R, Alanay Y, Bank RA et al. Phenotypic and molecular cha­ racterization of Bruck syndrome (osteogenesis imperfecta with con­ tractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet 2004;131(2):115-120. Go to original source...
    49. Berg C, Geipel A, Noack F et al. Prenatal diagnosis of Bruck syndro­ me. Prenat Diagn 2005;25(7):535-538. Go to original source...
    50. Mackenroth L, Fischer-Zirnsak B, Egerer J et al. An overlapping phe­ notype of osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1tA1 and biallelic missense variants in TNXB identified by whole exome sequencing. Am J Med Genet A 2016;170A(4):1080-1085. Go to original source...
    51. Veilleux LN, Pouliot-Laforte A, Lemay M et al. The functional mus­ cle-bone unit in patients with osteogenesis imperfecta type I. Bone 2015;79:52-57. Go to original source...
    52. van Brussel M, Takken T, Uiterwall CS et al. Physical training in child­ ren with osteogenesis imperfecta. J Pediatr 2008;152(1):111-116. Go to original source...
    53. Semler O, Fricke O, Vezyroglou K et al. Results of a prospective pilot trial on mobility after whole body vibration in children and adolescents with osteogenesis imperfecta. Clin Rehabil 2008;22(5):387-394. Go to original source...
    54. Vanleene M, Shefelbine SJ. Therapeutic impact of low amplitude high frequency whole body vibrations on the osteogenesis imperfecta mou­ se bone. Bone 2013;53(2):507-514. Go to original source...
    55. Hasegawa K, Inoue M, Seino Y et al. Growth of infants with osteoge­ nesis imperfecta treated with bisphosphonate. Pediatr Int 2009;51(1): 54-58. Go to original source...
    56. Sato A, Ouellet J, Muneta T et al. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype corre­ lations and effect of bisphosphonate treatment. Bone 2016;86:53-57. Go to original source...
    57. Munns CF, Rauch F, Travers R, Glorieux FH. Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome. J Bone Miner Res 2005;20(7): 1235-1243. Go to original source...
    58. Rauch F, Travers R, Glorieux FH. Pamidronate in children with osteo­ genesis imperfecta: histomorphometric effects of long-term therapy. J Clin Endocrinol Metab 2006;91(2):511-516. Go to original source...
    59. Lindahl K, Kindmark A, Rubin CJ et al. Decreased fracture rate, phar­ macogenetics and BMD response in 79 Swedish children with osteo­ genesis imperfecta types I, III and IV treated with Pamidronate. Bone 2016;87:11-18. Go to original source...
    60. Palomo T, Andrade MC, Peters BS et al. Evaluation of a modified pa­ midronate protocol for the treatment of osteogenesis imperfecta. Calcif Tissue Int 2016;98(1):42-48. Go to original source...
    61. Cheung MS, Glorieux FH, Rauch F. Large osteoclasts in pediatric osteogenesis imperfecta patients receiving intravenous pamidronate. J Bone Miner Res 2009;24(4):669-674. Go to original source...
    62. Gatti D, Antoniazzi F, Prizzi R et al. Intravenous neridronate in chil­ dren with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res 2005;20(5):758-763. Go to original source...
    63. Li M, Xia W., Xing X et al. Benefit of infusions with ibandronate tre­ atment in children with osteogenesis imperfecta. Chinese Medical Journal 2011;124(19):3049-3053.
    64. Bishop N, Harrison R, Ahmed F et al. A randomised controlled dose­ ranging study of risedronate in children with moderate and severe os­ teogenesis imperfecta. J Bone Miner Res 2010;25(1):32-40. Go to original source...
    65. Vuorimies I, Toiviainen-Salo S, Hero M, Mäkitie O. Zoledronic Acid Treatment in Children with Osteogenesis Imperfecta. Horm Res Paediatr 2011;75(5):346-353. Go to original source...
    66. Otaify GA, Aglan MS, Ibrahim MM et al. Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospecti­ ve observational study. Osteoporos Int 2016;27(1):81-92. Go to original source...
    67. Brown JJ, Zacharin MR. Safety and efficacy of intravenous zoledronic acid in paediatric osteoporosis. J Pediatr Endocrinol Metab 2009;22(1): 55-63. Go to original source...
    68. Kumar C, Panigrahi I, Somasekhara Aradhya A et al. Zoledronate for osteogenesis imperfecta: evaluation of safety profile in children. J Pediatr Endocrinol Metab 2016; 29(8):947-952. Go to original source...
    69. Trivedi S, Al-Nofal A, Kumar S et al. Severe non-infective systemic inflammatory response syndrome, shock, and end-organ dysfunction after zoledronic acid administration in a child. Osteoporos Int 2016; 27(7):2379-2382. Go to original source...
    70. Sousa T, Bompadre V, White KK. Musculoskeletal functional outco­ mes in children with osteogenesis imperfecta: associations with disea­ se severity and pamidronate therapy. J Pediatr Orthop 2014;34(1): 118-122. Go to original source...
    71. Antoniazzi F, Zamboni G, Lauriola S et al. Early bisphosphonate treat­ ment in infants with severe osteogenesis imperfecta. J Pediatr 2006; 149(2):174-179. Go to original source...
    72. Biggin A, Zheng L, Briody JN et al. The long-term effects of switching from active intravenous bisphosphonate treatment to low-dose mainte­ nance therapy in children with osteogenesis imperfecta. Horm Res Paediatr 2015;83(3):183-189. Go to original source...
    73. Rauch F, Munns C, Land C, Glorieux FH. Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment disconti­ nuation. J Clin Endocrinol Metab 2006; 91(4):1268-1274. Go to original source...
    74. Rauch F, Cornibert S, Cheung M, Glorieux FH. Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta. Bone 2007; 40(4):821-827. Go to original source...
    75. Ward LM, Rauch F, Whyte MP et al. Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab 2011;96(2):355-364. Go to original source...
    76. Chan B, Zacharin M. Maternal and infant outcome following pamidro­ nate treatment of polyostotic fibrous dysplasia and osteogenesis imper­ fecta before conception: a report of four cases. J Clin Endocrinol Metab 2006;91(6):2017-2020. Go to original source...
    77. Djokanovic N, Kliger-Grossmann C, Koren G. Does treatment with bisphosphonates endanger the human pregnancy? J Obstet Gynaecol Can 2008;30(12):1146-1148. Go to original source...
    78. Green SB, Pappas AL. Effects of maternal bisphosphonate use on fetal and neonatal outcomes. Am J Health Syst Pharm 2014;71(23): 2029-2036. Go to original source...
    79. Munns CF, Rauch F, Zeitlin L et al. Delayed osteotomy but not fractu­ re healing in pediatric osteogenesis imperfecta patients receiving pa­ midronate. J Bone Miner Res 2004;19(11):1779-1786. Go to original source...
    80. Hegazy A, Kenawey M, Sochett E et al. Unusual femur stress fractures in children with osteogenesis imperfecta and intramedullary rods on long-term intravenous pamidronate therapy. J Pediatr Orthop 2016; 36(7):757-761. Go to original source...
    81. Dwan K, Phillipi CA, Steiner RD, Basel D. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev 2016;10: CD005088. Go to original source...
    82. Hoyer-Kuhn H, Semler O, Schoenau E. Effect of denosumab on the growing skeleton in osteogenesis imperfecta. J Clin Endocrinol Metab 2014;99(11):3954-3955. Go to original source...
    83. Gatti D, Rossini M, Viapiana O et al. Teriparatide treatment in adult pa­ tients with osteogenesis imperfecta type I. Calcif Tissue Int 2013; 93(5):448-452. Go to original source...
    84. Orwoll ES, Shapiro J, Veith S et al. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest 2014;124(2): 491-498. Go to original source...
    85. Sinder BP, White LE, Salemi JD et al. Adult Brtl/+ mouse model of osteogenesis imperfecta demonstrates anabolic response to sclerostin antibody treatment with increased bone mass and strength. Osteoporos Int 2014;25(8):2097-2107. Go to original source...
    86. Antoniazzi F, Monti E, Venturi G et al. Growth hormone in combina­ tion with bisphosphonate treatment in osteogenesis imperfecta. Eur J Endocrinol 2010;163(3):479-487. Go to original source...
    87. Imajima Y, Kitano M, Ueda T. Intramedullary fixation using Kirschner wires in children with osteogenesis imperfecta. J Pediatr Orthop 2015; 35(4):431-434. Go to original source...
    88. Lee RJ, Paloski MD, Sponseller PD, Leet AI. Bent telescopic rods in patients with osteogenesis imperfecta. J Pediatr Orthop 2016;36(6): 656-660. Go to original source...
    89. Franzone JM, Kruse RW. Intramedullary nailing with supplemental plate and screw fixation of long bones of patients with osteogenesis imperfecta: operative technique and preliminary results. J Pediatr Orthop B 2016; [Epub ahead of print]
    90. Grossman LS, Price AL, Rush ET et al. Initial experience with percu­ taneous IM rodding of the humeri in children with osteogenesis imper­ fecta. J Pediatr Orthop 2016; [Epub ahead of print]
    91. Anam EA, Rauch F, Glorieux FH et al. Osteotomy healing in children with osteogenesis imperfecta receiving bisphosphonate treatment. J Bone Miner Res 2015;30(8):1362-1368. Go to original source...
    92. Kaplan L, Barzilay Y, Hashroni A et al. Thoracic elongation in type III osteogenesis imperfecta patients with thoracic insufficiency syndrome. Spine (Phila Pa 1976). 2013;38(2):E94-100. Go to original source...
    93. Vincent R, Wegner I, Stegeman I, Grolman W. Stapedotomy in osteo­ genesis imperfecta: a prospective study of 32 consecutive cases. Otol Neurotol 2014;35(10):1785-1789. Go to original source...
    94. Guillot PV, Abass O, Bassett JH et al. Intrauterine transplantation of human fetal mesenchymal stem cells from first trimester blood repairs bone and reduces fractures in osteogenesis imperfecta mice. Blood 2008;111(3):1717-1725. Go to original source...
    95. Vanleene M, Saldanha Z, Cloyd KL et al. Transplantation ofhuman fe­ tal blood stem cells in the osteogenesis imperfecta mouse leads to im­ provement in multi-scale tissue properties. Blood 2011;117(3): 1053-1060. Go to original source...
    96. Jones GN, Moschidou D, Abdulrazzak H et al. Potential of human fetal chorionic stem cells for the treatment of osteogenesis imperfecta. Cells Dev 2014;23(3):262-276. Go to original source...
    97. Westgren M, Gotherstrom C. Stem cell transplantation before birth a realistic option for treatment of osteogenesis imperfecta? Prenat Diagn 2015;35(9):827-832. Go to original source...

    Return to the content


    Clinical Osteology

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.