Osteogenesis imperfecta: Diagnosis and treatment

Journal of the American Academy of Orthopaedic Surgeons

Volumn 16, Issue 6, 2008, Pages 356-366

  Burnei, Gheorghe ^a,b   Vlad, Costel ^c   Georgescu, Ileana ^c   Gavriliu, Traian Stefan ^c   Dan, Iela ^c  

^a CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^b Maria Sklodowska Curie Hospital   (Romania)

^c Department of Paediatric Orthopaedic Surgery

Author keywords

[No Author keywords available]

Indexed keywords

EID: 46049085578     PISSN: 1067151X     EISSN: None     Source Type: Journal    
DOI: 10.5435/00124635-200806000-00008     Document Type: Review

References (53)

1. Kocher MS, Shapiro F: Osteogenesis imperfecta. J Am Acad Orthop Surg 1998;6:225-236.
2. Kalra L, Hamlyn AN, Jones BJ: Blue sclerae: A common sign of iron deficiency? Lancet 1986;2:1267-1269.
3. Kuurila K, Kaitila I, Johansson R, Grénman R: Hearing loss in Finnish adults with osteogenesis imperfecta: A nationwide survey. Ann Otol Rhinol Laryngol 2002;111:939-946.
4. Dalgleish R: The human type I collagen mutation database. Nucleic Acids Res 1997;25:181-187.
5. Looser E: Kenntnis der osteogenesis imperfecta congenita und tarda (sogenannte idiopathische osteopsathyrosis. Mitt Grenzgebiet Med Cir 1906;15:161.
6. Seedorff KS: Osteogenesis Imperfecta: A Study of Clinical Features and Heredity Based on 55 Danish Families Comprising 180 Affected Persons. Copenhagen: Ejnar Munksgaard, 1949.
7. Shapiro F: Consequences of an osteogenesis imperfecta diagnosis for survival and ambulation. J Pediatr Orthop 1985;5:456-462.
8. Sillence DO, Senn A, Danks DM: Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-116.
9. Plotkin H: Two questions about osteogenesis imperfecta. J Pediatr Orthop 2006;26:148-149.
10. Glorieux FH, Rauch F, Plotkin H, et al: Type V osteogenesis imperfecta: A new form of brittle bone disease. J Bone Miner Res 2000;15:1650-1658.
11. Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R: Osteogenesis imperfecta type VI: A new form of brittle bone disease with a mineraliza-tion defect. J Bone Miner Res 2002;17:30-38.
12. 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.
13. Barnes AM, Chang W, Morello R, et al: Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006;355:2757-2764.
14. 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.
15. 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;39:359-365.
16. Marlowe A, Pepin MG, Byers PH: Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. J Med Genet 2002;39:382-386.
17. Buisson O, Senat M-V, Laurenceau N, Ville Y: Update on prenatal diagnosis of osteogenesis imperfecta type II: An index case report diagnosed by ultrasonography in the first trimester [French]. J Gynecol Obstet Biol Reprod (Paris) 2002;31:672-676.
18. Cohen-Solal L, Zolezzi F, Pignatti PF, Mottes M: Intrafamilial variable expressivity of osteogenesis imperfecta due to mosaicism for lethal G382R substitution in the COLlA1 gene. Mol Cell Probes 1996;10:219-225.
19. Morris CD, Einhorn TA: Bisphosphonates in orthopaedic surgery. J Bone Joint Surg Am 2005;87:1609-1618.
20. Hickey J, Lemons D, Waber P, Seikaly MG: Bisphosphonate use in children with bone disease. J Am Acad Orthop Surg 2006;14:638-644.
21. Shaw NJ, Bishop NJ: Bisphosphonate treatment of bone disease. Arch Dis Child 2005;90:494-499.
22. Seikaly MG, Kopanati S, Salhab N, et al: Impact of alendronate on quality of life in children with osteogenesis imperfecta. J Pediatr Orthop 2005;25:786-791.
23. 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;339:947-952.
24. Plotkin H, Rauch F, Bishop NJ, et al: Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab 2000;85:1846-1850.
25. DiMeglio LA, Peacock M: Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta. J Bone Miner Res 2006;21:132-140.
26. 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;91:1268-1274.
27. Vallo A, Rodriguez-Leyva F, Rodriguez Soriano J: Osteogenesis imperfecta: Anthropometric, skeletal and mineral metabolic effects of long-term intravenous pamidronate therapy. Acta Paediatr 2006;95:332-339.
28. Pizones f, Plotkin H, Parra-Garcia JI, et al: Bone healing in children with osteogenesis imperfecta treated with bisphosphonates. J Pediatz Orthop 2005;25:332-335.
29. Munns CF, Rauch F, Zeitlin L, Fassier F, Glorieux FH: Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients re-ceiving pamidronate. J Bone Miner Res 2004;19:1779-1786.
30. Van Poznak C, Ward BB: Osteonecrosis of the jaw. Curr Opin Orthop 2006;17:462-468.
31. Ruggiero SL, Mehrotra B, Rosenberg TJ, Engroff SL: Osteonecrosis of the jaws associated with the use of bisphosphonates: A review of 63 cases. J Oral Maxillofac Surg 2004;62:527-534.
32. Maerevoet M, Martin C, Duck L: Osteonecrosis of the jaw and bisphosphonates. N Engl J Med 2005;353:99-102.
33. Zionts LE, Ebramzadeh E, Stott NS: Complications in the use of the Bailey-Dubow extensible nail. Clin Orthop Relat Res 1998;348:186-195.
34. Luhmann SJ, Sheridan JJ, Capelli AM, Schoenecker PL: Management of lower-extremity deformities in osteogenesis imperfecta with extensible intramedullary rod technique: A 20-year experience. J Pediatr Orthop 1998;18:88-94.
35. Wilkinson JM, Scott BW, Clarke AM, Bell MJ: Surgical stabilisation of the lower limb in osteogenesis imperfecta using the Sheffield Telescopic Intramedullary Rod System. J Bone Joint Surg Br 1998;80:999-1004.
36. Mulpuri K, Joseph B: Intramedullary rodding in osteogenesis imperfecta. J Pediatr Orthop 2000;20:267-273.
37. Chotigavanichaya C, Jadhav A, Bernstein RM, Watts HG: Rod diameter prediction in patients with osteogenesis imperfecta undergoing primary osteotomy. J Pediatr Orthop 2001;21:515-518.
38. Zeitlin L, Fassier F, Glorieux FH: Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B 2003;12:77-87.
39. Li YH, Chow W, Leong JC: The Sofield-Millar operation in osteogenesis imperfecta: A modified technique. J Bone Joint Surg Br 2000;82:11-16.
40. Chockalingam S, Bell MJ: Technique of exchange of Sheffield telescopic rod system. J Pediati Orthop 2002;22:117-119.
41. Radkowski CA, Fitch RD, Hardaker WT Jr: Arthroscopic-assisted revision of telescopic rods in osteogenesis imperfecta. Arthroscopy 2005;21:93-97.
42. Khoshhal KI, Ellis RD: Functional outcome of Sofield procedure in the upper limb in osteogenesis imperfecta. J Pediatr Orthop 2001;21:236-237.
43. Khoshhal KI, Ellis RD: Effect of lower limb Sofield procedure on ambulation in osteogenesis imperfecta. J Pediatr Orthop 2001;21:233-235.
44. el-Sobky MA, Hanna AA, Basha NE, Tarraf YN, Said MH: Surgery versus surgery plus pamidronate in the management of osteogenesis imperfecta patients: A comparative study. J Pediatr Orthop B 2006;15:222-228.
45. Aarabi M, Rauch F, Hamdy RC, Fassier F: High prevalence of coxa vara in patients with severe osteogenesis imperfecta. J Pediatr Orthop 2006;26:24-28.
46. Widmann RF, Bitan FD, Laplaza FJ, Burke SW, DiMaio MF, Schneider R: Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine 1999;24:1673-1678.
47. Pan CH, Ma SC, Wu CT, Chen PQ: All pedicle screw fixation technique in correcting severe kyphoscoliosis in an osteogenesis imperfecta patient: A case report. J Spinal Disord Tech 2006;19:368-372.
48. Nakamura M, Yone K, Yamaura I, et al: Treatment of craniocervical spine lesion with osteogenesis imperfecta: A case report. Spine 2002;27:E224-E227.
49. Basu PS, Hilali Noordeen MH, Elsebaie H: Spondylolisthesis in osteogenesis imperfecta due to pedicle elongation: Report of two cases. Spine 2001;26:E506-E509.
50. Ring D, Jupiter JB, Labropoulos PK, Guggenheim JJ, Stanitsky DF, Spencer DM: Treatment of deformity of the lower limb in adults who have osteogenesis imperfecta. J Bone Joint Surg Am 1996;78:220-225.
51. Saldanha KA, Saleh M, Bell MJ, Fernandes JA: Limb lengthening and correction of deformity in the lower limbs of children with osteogenesis imperfecta. J Bone Joint Surg Bir 2004;86:259-265.
52. Firoozbakhsh K, Moneim MS, Yi IS, Umeda Y, Theele D, Shahinpoor M: Smart intramedullary rod for correction of pediatric bone deformity: A preliminary study. Clin Orthop Relat Res 2004;424:194-201.
53. Horwitz EM, Prockop DJ, Fitzpatrick LA, et al: Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med 1999;5:309-313.