Osteogenesis Imperfecta (OI) Questions & Answers

1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979 Apr. 16 (2):101-16. [QxMD MEDLINE Link].

2. Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 2019 Dec. 179 (12):2393-2419. [QxMD MEDLINE Link]. [Full Text].

3. Smith R, Francis MJ, Houghton GR. The Brittle Bone Syndrome: Osteogenesis Imperfecta. London: Butterworth; 1983.

4. Brusin JH. Osteogenesis imperfecta. Radiol Technol. 2008 Jul-Aug. 79 (6):535-48; quiz 549-51. [QxMD MEDLINE Link].

5. Trejo P, Rauch F. Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment. Osteoporos Int. 2016 Dec. 27 (12):3427-3437. [QxMD MEDLINE Link].

6. Cho TJ, Ko JM, Kim H, Shin HI, Yoo WJ, Shin CH. Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach. Clin Orthop Surg. 2020 Dec. 12 (4):417-429. [QxMD MEDLINE Link]. [Full Text].

7. Sakkers RJ, Montpetit K, Tsimicalis A, Wirth T, Verhoef M, Hamdy R, et al. A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams. Acta Orthop. 2021 Oct. 92 (5):608-614. [QxMD MEDLINE Link]. [Full Text].

8. Zeitlin L, Fassier F, Glorieux FH. Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B. 2003 Mar. 12 (2):77-87. [QxMD MEDLINE Link].

9. Forin V. [Paediatric osteogenesis imperfecta: medical and physical treatment]. Arch Pediatr. 2008 Jun. 15 (5):792-3. [QxMD MEDLINE Link].

10. Esposito P, Plotkin H. Surgical treatment of osteogenesis imperfecta: current concepts. Curr Opin Pediatr. 2008 Feb. 20 (1):52-7. [QxMD MEDLINE Link].

11. Cole WG. The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta. Clin Orthop Relat Res. 1997 Oct. 235-48. [QxMD MEDLINE Link].

12. Cole WG. Advances in osteogenesis imperfecta. Clin Orthop Relat Res. 2002 Aug. 6-16. [QxMD MEDLINE Link].

13. Cole WG. Bone, cartilage, and fibrous tissue disorders. Benson M, Fixsen J, Macnicol M, Parch K, eds. Children's Orthopaedics and Fractures. 3rd ed. London: Springer-Verlag; 2010. 75-104.

14. Baujat G, Lebre AS, Cormier-Daire V, Le Merrer M. [Osteogenesis imperfecta, diagnosis information (clinical and genetic classification)]. Arch Pediatr. 2008 Jun. 15 (5):789-91. [QxMD MEDLINE Link].

15. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010 Apr 9. 86 (4):551-9. [QxMD MEDLINE Link]. [Full Text].

16. Wallace DJ, Chau FY, Santiago-Turla C, Hauser M, Challa P, Lee PP, et al. Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. Mol Vis. 2014. 20:1174-81. [QxMD MEDLINE Link]. [Full Text].

17. Wekre LL, Frøslie KF, Haugen L, Falch JA. A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta. Disabil Rehabil. 2010. 32 (7):579-87. [QxMD MEDLINE Link].

18. Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop Relat Res. 1981 Sep. 11-25. [QxMD MEDLINE Link].

19. About OI: OI types/genetics. Osteogenesis Imperfecta Foundation. Available at https://oif.org/informationcenter/about-oi/. 2022; Accessed: February 17, 2022.

20. Labuda M, Morissette J, Ward LM, Rauch F, Lalic L, Roughley PJ, et al. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone. 2002 Jul. 31 (1):19-25. [QxMD MEDLINE Link].

21. Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, et al. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. 2002 Jul. 31 (1):12-8. [QxMD MEDLINE Link].

22. Fratzl-Zelman N, Barnes AM, Weis M, Carter E, Hefferan TE, Perino G, et al. Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization. J Clin Endocrinol Metab. 2016 Sep. 101 (9):3516-25. [QxMD MEDLINE Link]. [Full Text].

23. Duro Friedl EA, Ferrari Mayans L, Desalvo Portal LN, Ferrari Ruiz P, Bidondo Horno MP, Astraldi Tellechea MM. [Bruck syndrome: osteogenesis imperfecta with congenital joint contractures]. An Pediatr (Barc). 2008 Jul. 69 (1):90-1. [QxMD MEDLINE Link].

24. Ruiter-Ligeti J, Czuzoj-Shulman N, Spence AR, Tulandi T, Abenhaim HA. Pregnancy outcomes in women with osteogenesis imperfecta: a retrospective cohort study. J Perinatol. 2016 Oct. 36 (10):828-31. [QxMD MEDLINE Link].

25. Christian CW, Committee on Child Abuse and Neglect, American Academy of Pediatrics. The evaluation of suspected child physical abuse. Pediatrics. 2015 May. 135 (5):e1337-54. [QxMD MEDLINE Link]. [Full Text].

26. Trehan SK, Morakis E, Raggio CL, Twomey KD, Green DW. Acetabular Protrusio and Proximal Femur Fractures in Patients With Osteogenesis Imperfecta. J Pediatr Orthop. 2015 Sep. 35 (6):645-9. [QxMD MEDLINE Link].

27. Francis MJ, Smith R, Bauze RJ. Instability of polymeric skin collagen in osteogenesis imperfecta. Br Med J. 1974 Mar 9. 1 (5905):421-4. [QxMD MEDLINE Link].

28. Rauch F, Travers R, Parfitt AM, Glorieux FH. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone. 2000 Jun. 26 (6):581-9. [QxMD MEDLINE Link].

29. Jones D, Hosalkar H, Jones S. The orthopaedic management of osteogenesis imperfecta. Clin Orthop Relat Res. 2002. 16:374-88.

30. Sofield HA, Page MA, Mead NC. Multiple osteotomies and metal-rod fixation for osteogenesis imperfecta. J Bone Joint Surg. 1952. 34A:500-2.

31. Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. 1998 Oct 1. 339 (14):947-52. [QxMD MEDLINE Link]. [Full Text].

32. Salehpour S, Tavakkoli S. Cyclic pamidronate therapy in children with osteogenesis imperfecta. J Pediatr Endocrinol Metab. 2010 Jan-Feb. 23 (1-2):73-80. [QxMD MEDLINE Link].

33. 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 Apr. 91 (4):1268-74. [QxMD MEDLINE Link].

34. Shapiro JR, Thompson CB, Wu Y, Nunes M, Gillen C. 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. [QxMD MEDLINE Link].

35. Yazan H, Güneş N, Akpınar E, Özyalvaç ON, Uludağ Akkaya D, Tuysuz B. Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients. Turk Arch Pediatr. 2021 Sep. 56 (5):474-478. [QxMD MEDLINE Link].

36. Gallego L, Junquera L, Pelaz A, Costilla S. Pathological mandibular fracture after simple molar extraction in a patient with osteogenesis imperfecta treated with alendronate. Med Oral Patol Oral Cir Bucal. 2010 Nov 1. 15 (6):e895-7. [QxMD MEDLINE Link].

37. Lv F, Liu Y, Xu X, Wang J, Ma D, Jiang Y, et al. EFFECTS OF LONG-TERM ALENDRONATE TREATMENT ON A LARGE SAMPLE OF PEDIATRIC PATIENTS WITH OSTEOGENESIS IMPERFECTA. Endocr Pract. 2016 Dec. 22 (12):1369-1376. [QxMD MEDLINE Link].

38. Castillo H, Samson-Fang L, American Academy for Cerebral Palsy and Developmental Medicine Treatment Outcomes Committee Review Panel. Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review. Dev Med Child Neurol. 2009 Jan. 51 (1):17-29. [QxMD MEDLINE Link].

39. Kusumi K, Ayoob R, Bowden SA, Ingraham S, Mahan JD. Beneficial effects of intravenous pamidronate treatment in children with osteogenesis imperfecta under 24 months of age. J Bone Miner Metab. 2015 Sep. 33 (5):560-8. [QxMD MEDLINE Link].

40. Hald JD, Evangelou E, Langdahl BL, Ralston SH. Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo-controlled trials. J Bone Miner Res. 2015 May. 30 (5):929-33. [QxMD MEDLINE Link].

41. Dwan K, Phillipi CA, Steiner RD, Basel D. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev. 2016 Oct 19. 10:CD005088. [QxMD MEDLINE Link].

42. Garganta MD, Jaser SS, Lazow MA, Schoenecker JG, Cobry E, Hays SR, et al. Cyclic bisphosphonate therapy reduces pain and improves physical functioning in children with osteogenesis imperfecta. BMC Musculoskelet Disord. 2018 Sep 24. 19 (1):344. [QxMD MEDLINE Link]. [Full Text].

43. Bargman R, Huang A, Boskey AL, Raggio C, Pleshko N. RANKL inhibition improves bone properties in a mouse model of osteogenesis imperfecta. Connect Tissue Res. 2010 Apr. 51 (2):123-31. [QxMD MEDLINE Link]. [Full Text].

44. Marwan Y, Abu Dalu K, Hamdy RC, Janelle C, Fassier F. Retrograde Application of Humerus Fassier-Duval Rod in Osteogenesis Imperfecta: A New Surgical Technique. J Pediatr Orthop. 2022 Feb 1. 42 (2):e224-e228. [QxMD MEDLINE Link].

45. Shin CH, Lee DJ, Yoo WJ, Choi IH, Cho TJ. Dual Interlocking Telescopic Rod Provides Effective Tibial Stabilization in Children With Osteogenesis Imperfecta. Clin Orthop Relat Res. 2018 Nov. 476 (11):2238-2246. [QxMD MEDLINE Link].

46. Mueller B, Engelbert R, Baratta-Ziska F, Bartels B, Blanc N, Brizola E, et al. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta. Orphanet J Rare Dis. 2018 Sep 10. 13 (1):158. [QxMD MEDLINE Link]. [Full Text].

Manoj Ramachandran, MBBS, MRCS, FRCS Consultant Trauma and Orthopaedic Surgeon, Barts and the London NHS Trust; Honorary Senior Lecturer, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary's, University of London, UK

Manoj Ramachandran, MBBS, MRCS, FRCS is a member of the following medical societies: British Orthopaedic Association

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Orthopediatrics, Inc<br/>Serve(d) as a speaker or a member of a speakers bureau for: Orthopediatrics, Inc<br/>Received income in an amount equal to or greater than $250 from: Orthopediatrics, Inc.

Pramond Achan, MBBS, FRCS Senior Registrar, Royal National Orthopaedic Hospital, UK

Disclosure: Nothing to disclose.

David H A Jones, MBChB, FRCS, FRCS(Ed)(Orth) Consultant Orthopedic Surgeon, Great Ormond Street Hospital for Children; Senior Clinical Lecturer, University College London Hospitals, UK

David H A Jones, MBChB, FRCS, FRCS(Ed)(Orth) is a member of the following medical societies: British Orthopaedic Association

Disclosure: Nothing to disclose.

Vinod K Panchbhavi, MD, FACS, FAOA, FABOS, FAAOS Professor of Orthopedic Surgery, Chief, Division of Foot and Ankle Surgery, Director, Foot and Ankle Fellowship Program, Department of Orthopedic Surgery, University of Texas Medical Branch School of Medicine

Vinod K Panchbhavi, MD, FACS, FAOA, FABOS, FAAOS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Orthopaedic Trauma Association, Texas Orthopaedic Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Styker.

Harris Gellman, MD Consulting Surgeon, Broward Hand Center; Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami, Leonard M Miller School of Medicine; Clinical Professor of Surgery, Nova Southeastern School of Medicine

Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, Arkansas Medical Society, Florida Medical Association, Florida Orthopaedic Society

Disclosure: Nothing to disclose.

Peter R Calder, MBBS, FRCS(Eng), FRCS (Tr&Orth) Consulting Surgeon, Department of Pediatric Orthopedic Surgery, The Royal National Orthopaedic Hospital, UK

Peter R Calder, MBBS, FRCS(Eng), FRCS (Tr&Orth) is a member of the following medical societies: British Medical Association

Disclosure: Nothing to disclose.

Ian D Dickey, MD, FRCSC Adjunct Professor, Department of Chemical and Biological Engineering, University of Maine; Consulting Staff, Adult Reconstruction, Orthopedic Oncology, Department of Orthopedics, Eastern Maine Medical Center

Ian D Dickey, MD, FRCSC is a member of the following medical societies: American Academy of Orthopaedic Surgeons, British Columbia Medical Association, Canadian Medical Association, and Royal College of Physicians and Surgeons of Canada

Disclosure: Stryker Orthopaedics Consulting fee Consulting; Cadence Honoraria Speaking and teaching

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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