Osteogenesis imperfecta – state of art

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3. Li H, Jiang X, Delaney J, et al. Immature osteoblast lineage cells increase osteoclastogenesis in osteogenesis imperfecta murine. Am J Pathol 2010; 176 (5): 2405–2413.

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.

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.

6. Vranka JA, Pokidysheva E, Hayashi L, et al. Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin and bones. J Biol Chem 2010; 285 (22): 17253–17262.

7. Van Dijk FS, Nesbitt IM, Zwikstra EH. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 2009; 85 (4): 521–527.

8. Pyott SM, Schwarze U, Christiansen HE, et al. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet 2011; 20 (8): 1595–1609.

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.

10. Parker MJ, Deshpande C, Rankin J, et al. Type 1 collagenopathy presenting with a Russell-Silver phenotype. Am J Med Genet A 2011; 155 (6): 1414–1418.

11. Barnes AM, Duncan G, Weis M, et al. Kuskokwim syndrome, a recessive congenital contracture disorder, Extends the phenotype of FKBP10  mutations. Hum Mutat 2013; 34 (9): 1279–1288.

12. Schwarze U, Cundy T, Pyott SM, et al. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet 2013; 22 (1): 1–17.

13. Kamoun-Goldrat A, Pannier S, Huber C, et al. A new osteogenesis imperfecta with improvement over time maps to 11q. Am J Med Genet A 2008; 146A (14): 1807–1814.

14. Lindert U, Cabral WA, Ausavarat S, et al. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nat Commun 2016; 7: 11920.

15. Hoyer-Kuhn H, Höbing L, Cassens J, et al. Children with severe osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels. J Pediatr Endocrinol Metab 2016; 29 (7): 813–818.

16. Bellary SS, Steinberg A, Mirzayan N, et al. Wormian bones: A review. Clin Anat 2013; 26 (8): 922–927.

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.

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.

19. Kamoun-Goldrat A, Ginisty D, Le Merrer M. Effects of bisphosphonates on tooth eruption in children with osteogenesis imperfecta. Eur J Oral Sci 2008; 116 (3): 195–198.

20. Malmgren B, Andersson K, Lindahl K, et al. Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. Oral Dis 2017; 23 (1): 42–49.

21. Rauch F, Lalic L, Roughley P, Glorieux FH. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet 2010; 18 (6): 642–647.

22. Anissipour AK, Hammerberg KW, Caudill A, et al. Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am 2014; 96 (3): 237–243.

23. Caudill A, Flanagan A, Hassani S, et al. Ankle strength and functional limitations in children and adolescents with type I osteogenesis imperfecta. Pediatr Phys Ther 2010; 22 (3): 288–295.

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 syndrome. Orphanet J Rare Dis 2013; 8 (1): 78.

25. Bonita RE, Cohen IS, Berko BA. Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature. Echocardiography 2010; 27 (1): 69–73.

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.

27. Radunovic Z, Steine K. Prevalence of cardiovascular disease and cardiac symptoms: left and right ventricular function in adults with osteogenesis imperfecta. Can J Cardiol 2015; 31 (11): 1386–1392.

28. Folkestad L, Hald JD, Gram J, et al. Cardiovascular disease in patients with osteogenesis imperfecta - a nationwide, register-based cohort study. Int J Cardiol 2016; 225: 250–257.

29. Santos F, McCall AA, Chien W, Merchant S. Otopathology in osteogenesis imperfecta. Otol Neurotol 2012; 33 (9): 1562–1566.

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.

31. Pillion JP, Shapiro I. Audiological findings in osteogenesis imperfecta. J Am Acad Audiol 2008; 19 (8): 595–601.

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.

33. Arponen H, Vuorimies I, Haukka J, et al. Cranial base pathology in pediatric osteogenesis imperfecta patients treated with bisphosphonates. J Neurosurg Pediatr 2015; 15 (3): 313–320.

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.

35. Ibrahim AG, Crockard HA. Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients. J Neurosurg Spine 2007; 7 (6): 594–600.

36. Silence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16 (2): 101–116.

37. Trejo P, Rauch F. Osteogenesis imperfecta in children and adolescents – new developments in diagnosis and treatment. Osteoporos Int 2016; 27: 3427–3437.

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.

39. Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000; 15 (9): 1650–1658.

40. Balasubramanian M, Parker MJ, Dalton A, et al. Genotype-phenotype study in type V osteogenesis imperfecta. Clin Dysmorphol 2013; 22 (3): 93–101.

41. Arundel P, Offiah A, Bishop NJ. Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis. J Bone Miner Res 2011; 26 (4): 894–898.

42. Diacinti D, Pisani D, D‘Avanzo M, et al. Reliability of vertebral fractures assessment (VFA) in children with osteogenesis imperfecta. Calcif Tissue Int 2015; 96 (4): 307–312.

43. Aström E, Magnusson P, Eksborg S, Söderhäll S. Biochemical bone markers in the assessment and pamidronate treatment of children and adolescents with osteogenesis imperfekta. Acta Paediatr 2010; 99 (12): 1834–1840.

44. Singh Kocher M, Dichtel L. Osteogenesis imperfecta misdiagnosed as child abuse. J Pediatr Orthop B 2011; 20 (6): 440–443.

45. Zarate YA, Clingenpeel R, Sellars EA, et al. COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse. Am J Med Genet A 2016; 170 (7): 1858–1862.

46. Pyott SM, Tran TT, Leistritz DF, et al. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet 2013; 92 (4): 590–597.

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.

48. Ha-Vinh R, Alanay Y, Bank RA, et al. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet 2004; 131 (2): 115–120.

49. Berg C, Geipel A, Noack F, et al. Prenatal diagnosis of Bruck syndrome. Prenat Diagn 2005; 25 (7): 535–538.

50. Mackenroth L, Fischer-Zirnsak B, Egerer J, et al. An overlapping phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. Am J Med Genet A 2016; 170A (4): 1080–1085.

51. Veilleux LN, Pouliot-Laforte A, Lemay M, et al. The functional muscle-bone unit in patients with osteogenesis imperfecta type I. Bone 2015; 79: 52–57.

52. van Brussel M, Takken T, Uiterwall CS, et al. Physical training in children with osteogenesis imperfecta. J Pediatr 2008; 152 (1): 111–116.

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.

54. Vanleene M, Shefelbine SJ. Therapeutic impact of low amplitude high frequency whole body vibrations on the osteogenesis imperfecta mouse bone. Bone 2013; 53 (2): 507–514.

55. Hasegawa K, Inoue M, Seino Y, et al. Growth of infants with osteogenesis imperfecta treated with bisphosphonate. Pediatr Int 2009; 51 (1): 54–58.

56. Sato A, Ouellet J, Muneta T, et al. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations – genotype-phenotype correlations and effect of bisphosphonate treatment. Bone 2016; 86: 53–57.

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.

58. Rauch F, Travers R, Glorieux FH. Pamidronate in children with osteogenesis imperfecta: histomorphometric effects of long-term therapy. J Clin Endocrinol Metab 2006; 91 (2): 511–516.

59. Lindahl K, Kindmark A, Rubin CJ, et al. Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate. Bone 2016; 87: 11–18.

60. Palomo T, Andrade MC, Peters BS, et al. Evaluation of a modified pamidronate protocol for the treatment of osteogenesis imperfecta. Calcif Tissue Int 2016; 98 (1): 42–48.

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.

62. Gatti D, Antoniazzi F, Prizzi R, et al. Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res 2005; 20 (5): 758–763.

63. Li M, Xia W, Xing X, et al. Benefit of infusions with ibandronate treatment in children with osteogenesis imperfecta. Chin Med J 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 osteogenesis imperfecta. J Bone Miner Res 2010; 25 (1): 32–40.

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.

66. Otaify GA, Aglan MS, Ibrahim MM, et al. Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study. Osteoporos Int 2016; 27 (1): 81–92.

67. Brown JJ, Zacharin MR. Safety and efficacy of intravenous zoledronic acid in paediatric osteoporosis. J Pediatr Endocrinol Metab 2009; 22 (1): 55–63.

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.

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.

70. Sousa T, Bompadre V, White KK. Musculoskeletal functional outcomes in children with osteogenesis imperfecta: associations with disease severity and pamidronate therapy. J Pediatr Orthop 2014; 34 (1): 118–122.

71. Antoniazzi F, Zamboni G, Lauriola S, et al. Early bisphosphonate treatment in infants with severe osteogenesis imperfecta. J Pediatr 2006; 149 (2): 174–179.

72. Biggin A, Zheng L, Briody JN, et al. The long-term effects of switching from active intravenous bisphosphonate treatment to low-dose maintenance therapy in children with osteogenesis imperfecta. Horm Res Paediatr 2015; 83 (3): 183–189.

73. Rauch F, Munns C, Land C, Glorieux FH. Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 2006; 91 (4): 1268–1274.

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.

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.

76. Chan B, Zacharin M. Maternal and infant outcome following pamidronate treatment of polyostotic fibrous dysplasia and osteogenesis imperfecta before conception: a report of four cases. J Clin Endocrinol Metab 2006; 91 (6): 2017–2020.

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.

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.

79. Munns CF, Rauch F, Zeitlin L, et al. Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate. J Bone Miner Res 2004; 19 (11): 1779–1786.

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.

81. Dwan K, Phillipi CA, Steiner RD, Basel D. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev 2016; 10: CD005088.

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.

83. Gatti D, Rossini M, Viapiana O, et al. Teriparatide treatment in adult patients with osteogenesis imperfecta type I. Calcif Tissue Int 2013; 93 (5): 448–452.

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.

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.

86. Antoniazzi F, Monti E, Venturi G, et al. Growth hormone in combination with bisphosphonate treatment in osteogenesis imperfecta. Eur J Endocrinol 2010;163 (3): 479–487.

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.

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.

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 Nov 9. [Epub ahead of print].

90. Grossman LS, Price AL, Rush ET, et al. Initial experience with percutaneous IM rodding of the humeri in children with osteogenesis imperfecta. J Pediatr Orthop 2016 Sep 22. [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.

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.

93. Vincent R, Wegner I, Stegeman I, Grolman W. Stapedotomy in osteogenesis imperfecta: a prospective study of 32 consecutive cases. Otol Neurotol 2014; 35 (10): 1785–1789.

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.

95. Vanleene M, Saldanha Z, Cloyd KL, et al. Transplantation of human fetal blood stem cells in the osteogenesis imperfecta mouse leads to improvement in multi-scale tissue properties. Blood 2011; 117 (3): 1053–1060.

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.

97. Westgren M, Götherström C. Stem cell transplantation before birth – a realistic option for treatment of osteogenesis imperfecta? Prenat Diagn 2015; 35 (9): 827–832.