Osteogenesis imperfecta

References

Key articles

Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct;183(4):R95-106.Full text  Abstract

Mueller B, Engelbert R, Baratta-Ziska F, et al. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta. Orphanet J Rare Dis. 2018 Sep 10;13(1):158.Full text  Abstract

Chaney H, Mekking D, De Bakker D, et al. Key4OI recommendations for lung function guidance in osteogenesis imperfecta: based on an internationally performed comprehensive international consortium for health outcomes measurement procedure. Chest. 2023 May;163(5):1201-13.Full text  Abstract

Liu W, Lee B, Nagamani SCS, et al. Approach to the patient: pharmacological therapies for fracture risk reduction in adults with osteogenesis imperfecta. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1787-96.Full text  Abstract

Reference articles

1. Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct;183(4):R95-106.Full text  Abstract

2. Pontz BF, Stöss H, Spranger J. Heterogeneity in osteogenesis imperfecta: clinical and morphological findings. Ann N Y Acad Sci. 1988;543:30-9. Abstract

3. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979 Apr;16(2):101-16.Full text  Abstract

4. Marini JC, Forlino A, Bächinger HP, et al. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017 Aug 18;3:17052. Abstract

5. Pillion JP, Vernick D, Shapiro J. Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations. Genet Res Int. 2011;2011:983942.Full text  Abstract

6. Oheim R, Tsourdi E, Seefried L, et al. Genetic diagnostics in routine osteological assessment of adult low bone mass disorders. J Clin Endocrinol Metab. 2022 Jun 16;107(7):e3048-57.Full text  Abstract

7. Robinson ME, Rauch F. Mendelian bone fragility disorders. Bone. 2019 Sep;126:11-7. Abstract

8. Patel RM, Nagamani SC, Cuthbertson D, et al. A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clin Genet. 2015 Feb;87(2):133-40.Full text  Abstract

9. El-Gazzar A, Högler W. Mechanisms of bone fragility: from osteogenesis imperfecta to secondary osteoporosis. Int J Mol Sci. 2021 Jan 10;22(2):625.Full text  Abstract

10. Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet. 1991 Jul;28(7):433-42.Full text  Abstract

11. Marini JC, Dang Do AN. Osteogenesis imperfecta. In: Feingold KR, Anawalt B, Blackman MR, et al, eds. Endotext [Internet]. South Dartmouth, MA: MDText.com, Inc; 2020 Jul 26.Full text  Abstract

12. van Dijk FS, Nesbitt IM, Zwikstra EH, et al. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 2009 Oct;85(4):521-7.Full text  Abstract

13. Ishikawa Y, Bächinger HP. A molecular ensemble in the rER for procollagen maturation. Biochim Biophys Acta. 2013 Nov;1833(11):2479-91.Full text  Abstract

14. Ishida Y, Yamamoto A, Kitamura A, et al. Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection. Mol Biol Cell. 2009 Jun;20(11):2744-54.Full text  Abstract

15. Gioia R, Panaroni C, Besio R, et al. Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy. Stem Cells. 2012 Jul;30(7):1465-76.Full text  Abstract

16. Duran I, Zieba J, Csukasi F, et al. 4-PBA treatment improves bone phenotypes in the Aga2 mouse model of osteogenesis imperfecta. J Bone Miner Res. 2022 Apr;37(4):675-86.Full text  Abstract

17. Morello R, Bertin TK, Chen Y, et al. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304.Full text  Abstract

18. Cabral WA, Chang W, Barnes AM, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet. 2007 Mar;39(3):359-65.Full text  Abstract

19. Fratzl-Zelman N, Barnes AM, Weis M, et al. Non-lethal type VIII osteogenesis imperfecta has elevated bone matrix mineralization. J Clin Endocrinol Metab. 2016 Sep;101(9):3516-25.Full text  Abstract

20. Roschger P, Fratzl P, Eschberger J, et al. Validation of quantitative backscattered electron imaging for the measurement of mineral density distribution in human bone biopsies. Bone. 1998 Oct;23(4):319-26. Abstract

21. Christiansen HE, Schwarze U, Pyott SM, et al. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet. 2010 Mar 12;86(3):389-98.Full text  Abstract

22. Becker J, Semler O, Gilissen C, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2011 Mar 11;88(3):362-71.Full text  Abstract

23. Martínez-Glez V, Valencia M, Caparrós-Martín JA, et al. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat. 2012 Feb;33(2):343-50.Full text  Abstract

24. Shaheen R, Alazami AM, Alshammari MJ, et al. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet. 2012 Oct;49(10):630-5. Abstract

25. Cho TJ, Lee KE, Lee SK, et al. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012 Aug 10;91(2):343-8.Full text  Abstract

26. Laine CM, Joeng KS, Campeau PM, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 9;368(19):1809-16.Full text  Abstract

27. Mueller B, Engelbert R, Baratta-Ziska F, et al. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta. Orphanet J Rare Dis. 2018 Sep 10;13(1):158.Full text  Abstract

28. Tosi LL, Oetgen ME, Floor MK, et al. Initial report of the osteogenesis imperfecta adult natural history initiative. Orphanet J Rare Dis. 2015 Nov 14;10:146.Full text  Abstract

29. Jain M, Tam A, Shapiro JR, et al. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2019 Feb;21(2):275-83.Full text  Abstract

30. Barber LA, Abbott C, Nakhate V, et al. Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen. Genet Med. 2019 May;21(5):1233-9.Full text  Abstract

31. Folkestad L, Hald JD, Ersbøll AK, et al. Fracture rates and fracture sites in patients with osteogenesis imperfecta: a nationwide register-based cohort study. J Bone Miner Res. 2017 Jan;32(1):125-34.Full text  Abstract

32. Tayne S, Smith PA. Olecranon fractures in pediatric patients with osteogenesis imperfecta. J Pediatr Orthop. 2019 Aug;39(7):e558-62. Abstract

33. Widmann RF, Bitan FD, Laplaza FJ, et al. Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine (Phila Pa 1976). 1999 Aug 15;24(16):1673-8. Abstract

34. 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 May;86:53-7. Abstract

35. Anissipour AK, Hammerberg KW, Caudill A, et al. Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am. 2014 Feb 5;96(3):237-43.Full text  Abstract

36. Rodriguez Celin M, Kruger KM, Caudill A, et al. A multicenter study to evaluate pain characteristics in osteogenesis imperfecta. Am J Med Genet A. 2023 Jan;191(1):160-72.Full text  Abstract

37. Marçal FF, Ribeiro EM, Costa FWG, et al. Dental alterations on panoramic radiographs of patients with osteogenesis imperfecta in relation to clinical diagnosis, severity, and bisphosphonate regimen aspects: a STROBE-compliant case-control study. Oral Surg Oral Med Oral Pathol Oral Radiol. 2019 Dec;128(6):621-30. Abstract

38. Taqi D, Moussa H, Schwinghamer T, et al. Osteogenesis imperfecta tooth level phenotype analysis: cross-sectional study. Bone. 2021 Jun;147:115917.Full text  Abstract

39. Waltimo-Sirén J, Tuurala H, Säämäki E, et al. Dental and dentoalveolar dimensions in individuals with osteogenesis imperfecta. Acta Odontol Scand. 2021 Jul;79(5):390-5.Full text  Abstract

40. Kuurila K, Kaitila I, Johansson R, et al. Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. Ann Otol Rhinol Laryngol. 2002 Oct;111(10):939-46. Abstract

41. Stewart EJ, O'Reilly BF. A clinical and audiological investigation of osteogenesis imperfecta. Clin Otolaryngol Allied Sci. 1989 Dec;14(6):509-14. Abstract

42. Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop Relat Res. 1981 Sep;(159):11-25. Abstract

43. Machol K, Hadley TD, Schmidt J, et al. Hearing loss in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Am J Med Genet A. 2020 Apr;182(4):697-704.Full text  Abstract

44. Folkestad L, Hald JD, Canudas-Romo V, et al. Mortality and causes of death in patients with osteogenesis imperfecta: a register-based nationwide cohort study. J Bone Miner Res. 2016 Dec;31(12):2159-66.Full text  Abstract

45. Chaney H, Mekking D, De Bakker D, et al. Key4OI recommendations for lung function guidance in osteogenesis imperfecta: based on an internationally performed comprehensive international consortium for health outcomes measurement procedure. Chest. 2023 May;163(5):1201-13.Full text  Abstract

46. Yonko EA, Emanuel JS, Carter EM, et al. Respiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalities. Arch Osteoporos. 2020 Oct 2;15(1):153. Abstract

47. Storoni S, Treurniet S, Micha D, et al. Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review. Ann Med. 2021 Dec;53(1):1676-87.Full text  Abstract

48. McAllion SJ, Paterson CR. Causes of death in osteogenesis imperfecta. J Clin Pathol. 1996 Aug;49(8):627-30.Full text  Abstract

49. Ashournia H, Johansen FT, Folkestad L, et al. Heart disease in patients with osteogenesis imperfecta - a systematic review. Int J Cardiol. 2015 Oct 1;196:149-57. Abstract

50. 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 Dec 15;225:250-7.Full text  Abstract

51. Radunovic Z, Wekre LL, Diep LM, et al. Cardiovascular abnormalities in adults with osteogenesis imperfecta. Am Heart J. 2011 Mar;161(3):523-9. Abstract

52. Radunovic Z, Wekre LL, Steine K. Right ventricular and pulmonary arterial dimensions in adults with osteogenesis imperfecta. Am J Cardiol. 2012 Jun 15;109(12):1807-13. Abstract

53. Migliaccio S, Barbaro G, Fornari R, et al. Impairment of diastolic function in adult patients affected by osteogenesis imperfecta clinically asymptomatic for cardiac disease: casuality or causality? Int J Cardiol. 2009 Jan 9;131(2):200-3. Abstract

54. Hayes M, Parker G, Ell J, et al. Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases. J Neurol Neurosurg Psychiatry. 1999 Mar;66(3):357-64.Full text  Abstract

55. Treurniet S, Burger P, Ghyczy EAE, et al. Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review. Acta Ophthalmol. 2022 Feb;100(1):e16-28.Full text  Abstract

56. Najib MQ, Schaff HV, Ganji J, et al. Valvular heart disease in patients with osteogenesis imperfecta. J Card Surg. 2013 Mar;28(2):139-43. Abstract

57. Weaver JS, Revels JW, Elifritz JM, et al. Clinical manifestations and medical imaging of osteogenesis imperfecta: fetal through adulthood. Acta Med Acad. 2021 Aug;50(2):277-91.Full text  Abstract

58. Shapiro JR, Lietman C, Grover M, et al. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013 Jul;28(7):1523-30.Full text  Abstract

59. Semler O, Cheung MS, Glorieux FH, et al. Wormian bones in osteogenesis imperfecta: correlation to clinical findings and genotype. Am J Med Genet A. 2010 Jul;152A(7):1681-7. Abstract

60. Bianchi ML, Leonard MB, Bechtold S, et al. Bone health in children and adolescents with chronic diseases that may affect the skeleton: the 2013 ISCD Pediatric Official Positions. J Clin Densitom. 2014 Apr-Jun;17(2):281-94. Abstract

61. Liu W, Lee B, Nagamani SCS, et al. Approach to the patient: pharmacological therapies for fracture risk reduction in adults with osteogenesis imperfecta. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1787-96.Full text  Abstract

62. Bains JS, Carter EM, Citron KP, et al. A multicenter observational cohort study to evaluate the effects of bisphosphonate exposure on bone mineral density and other health outcomes in osteogenesis imperfecta. JBMR Plus. 2019 May;3(5):e10118.Full text  Abstract

63. Tam A, Chen S, Schauer E, et al. A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet. 2018 Dec;94(6):502-11.Full text  Abstract

64. Sylvester KP, Clayton N, Cliff I, et al. ARTP statement on pulmonary function testing 2020. BMJ Open Respir Res. 2020 Jul;7(1):e000575.Full text  Abstract

65. Galindo-Zavala R, Bou-Torrent R, Magallares-López B, et al. Expert panel consensus recommendations for diagnosis and treatment of secondary osteoporosis in children. Pediatr Rheumatol Online J. 2020 Feb 24;18(1):20.Full text  Abstract

66. Dwan K, Phillipi CA, Steiner RD, et al. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev. 2016 Oct 19;(10):CD005088.Full text  Abstract

67. Celin MR, Simon JC, Krzak JJ, et al. Do bisphosphonates alleviate pain in children? A systematic review. Curr Osteoporos Rep. 2020 Oct;18(5):486-504. Abstract

68. Simm PJ, Biggin A, Zacharin MR, et al. Consensus guidelines on the use of bisphosphonate therapy in children and adolescents. J Paediatr Child Health. 2018 Mar;54(3):223-33. Abstract

69. Adami S, Gatti D, Colapietro F, et al. Intravenous neridronate in adults with osteogenesis imperfecta. J Bone Miner Res. 2003 Jan;18(1):126-30. Abstract

70. Chevrel G, Schott AM, Fontanges E, et al. Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. J Bone Miner Res. 2006 Feb;21(2):300-6. Abstract

71. Viapiana O, Idolazzi L, Fassio A, et al. Long-term effects of neridronate in adults with osteogenesis imperfecta: an observational three-year Italian study. Calcif Tissue Int. 2017 Apr;100(4):341-7. Abstract

72. Shapiro JR, Thompson CB, Wu Y, et al. Bone mineral density and fracture rate in response to intravenous and oral bisphosphonates in adult osteogenesis imperfecta. Calcif Tissue Int. 2010 Aug;87(2):120-9. Abstract

73. Xu XJ, Ma DD, Lv F, et al. The clinical characteristics and efficacy of bisphosphonates in adult patients with osteogenesis impergecta. Endocr Pract. 2016 Nov;22(11):1267-76. Abstract

74. Bradbury LA, Barlow S, Geoghegan F, et al. Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. Osteoporos Int. 2012 Jan;23(1):285-94. Abstract

75. Constantino CS, Krzak JJ, Fial AV, et al. Effect of bisphosphonates on function and mobility among children with osteogenesis imperfecta: a systematic review. JBMR Plus. 2019 Oct;3(10):e10216.Full text  Abstract

76. Glorieux FH, Bishop NJ, Plotkin H, et al. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. 1998 Oct 1;339(14):947-52.Full text  Abstract

77. Bishop N, Adami S, Ahmed SF, et al. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet. 2013 Oct 26;382(9902):1424-32. Abstract

78. Rauch F, Plotkin H, Zeitlin L, et al. Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy. J Bone Miner Res. 2003 Apr;18(4):610-4. Abstract

79. Rauch F, Travers R, Glorieux FH. Intracortical remodeling during human bone development--a histomorphometric study. Bone. 2007 Feb;40(2):274-80. Abstract

80. Abrahamsen B. Adverse effects of bisphosphonates. Calcif Tissue Int. 2010 Jun;86(6):421-35. Abstract

81. Shane E, Burr D, Ebeling PR, et al. Atypical subtrochanteric and diaphyseal femoral fractures: report of a task force of the American Society for Bone and Mineral Research. J Bone Miner Res. 2010 Nov;25(11):2267-94. Abstract

82. Contaldo M, Luzzi V, Ierardo G, et al. Bisphosphonate-related osteonecrosis of the jaws and dental surgery procedures in children and young people with osteogenesis imperfecta: a systematic review. J Stomatol Oral Maxillofac Surg. 2020 Nov;121(5):556-62. Abstract

83. Papapetrou PD. Bisphosphonate-associated adverse events. Hormones (Athens). 2009 Apr-Jun;8(2):96-110.Full text  Abstract

84. George S, Weber DR, Kaplan P, et al. Short-term safety of zoledronic acid in young patients with bone disorders: an extensive institutional eExperience. J Clin Endocrinol Metab. 2015 Nov;100(11):4163-71.Full text  Abstract

85. Streubel SO, Lustig LR. Cochlear implantation in patients with osteogenesis imperfecta. Otolaryngol Head Neck Surg. 2005 May;132(5):735-40.Full text  Abstract

86. Orwoll ES, Shapiro J, Veith S, et al. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest. 2014 Feb;124(2):491-8.Full text  Abstract

87. Hald JD, Keerie C, Weir CJ, et al. Protocol of a randomised trial of teriparatide followed by zoledronic acid to reduce fracture risk in adults with osteogenesis imperfecta. BMJ Open. 2023 Nov 22;13(11):e078164.Full text  Abstract

88. Glorieux FH, Devogelaer JP, Durigova M, et al. BPS804 anti-sclerostin antibody in adults with moderate osteogenesis imperfecta: results of a randomized phase 2a trial. J Bone Miner Res. 2017 Jul;32(7):1496-504. Abstract

89. Song IW, Nagamani SC, Nguyen D, et al. Targeting TGF-β for treatment of osteogenesis imperfecta. J Clin Invest. 2022 Apr 1;132(7):e152571.Full text  Abstract

90. Majdoub F, Ferjani HL, Nessib DB, et al. Denosumab use in osteogenesis imperfecta: an update on therapeutic approaches. Ann Pediatr Endocrinol Metab. 2023 Jun;28(2):98-106.Full text  Abstract

91. Li G, Jin Y, Levine MAH, et al. Systematic review of the effect of denosumab on children with osteogenesis imperfecta showed inconsistent findings. Acta Paediatr. 2018 Mar;107(3):534-7. Abstract

92. Murali CN, Cuthbertson D, Slater B, et al. Pediatric outcomes data collection instrument is a useful patient-reported outcome measure for physical function in children with osteogenesis imperfecta. Genet Med. 2020 Mar;22(3):581-9.Full text  Abstract

93. Murali CN, Slater B, Musaad S, et al. Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 Jun;99(6):772-9. Abstract

94. Muñoz Cortés R, Soriano Pastor JF, Monsalve Dolz V. Chronic pain in adults with osteogenesis imperfecta and its relationship to appraisal, coping, and quality of life: a cross-sectional study. Medicine (Baltimore). 2022 Oct 7;101(40):e30256.Full text  Abstract

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