Osteogenesis Imperfecta: Clinical Diagnosis, Nomenclature and Severity Assessment

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2014 Apr 10

PMID 24715559

Citations 271

Authors

F S van Dijk

D O Sillence

Affiliations

Soon will be listed here.

Abstract

Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre-and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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References

Astrom E, Jorulf H, Soderhall S . Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta. Arch Dis Child. 2006; 92(4):332-8. PMC: 2083683. DOI: 10.1136/adc.2006.096552. View

Forlino A, Cabral W, Barnes A, Marini J . New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011; 7(9):540-57. PMC: 3443407. DOI: 10.1038/nrendo.2011.81. View

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D . A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. Hum Mutat. 2013; 34(4):582-6. DOI: 10.1002/humu.22274. View

Keupp K, Beleggia F, Kayserili H, Barnes A, Steiner M, Semler O . Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013; 92(4):565-74. PMC: 3617378. DOI: 10.1016/j.ajhg.2013.02.010. View

Sillence D, Butler B, Latham M, Barlow K . Natural history of blue sclerae in osteogenesis imperfecta. Am J Med Genet. 1993; 45(2):183-6. DOI: 10.1002/ajmg.1320450207. View

Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux F, Rauch F . Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet. 2013; 50(5):345-8. DOI: 10.1136/jmedgenet-2013-101567. View

Bauze R, Smith R, Francis M . A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients. J Bone Joint Surg Br. 1975; 57(1):2-12. View

Folkestad L, Hald J, Hansen S, Gram J, Langdahl B, Abrahamsen B . Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT. J Bone Miner Res. 2012; 27(6):1405-12. DOI: 10.1002/jbmr.1592. View

DiMeglio L, Ford L, McClintock C, Peacock M . Intravenous pamidronate treatment of children under 36 months of age with osteogenesis imperfecta. Bone. 2004; 35(5):1038-45. DOI: 10.1016/j.bone.2004.07.003. View

10.

PELTIER L . The classic: congenital osteomalacia. Olaus Jacob Ekman. Clin Orthop Relat Res. 1981; (159):3-5. View

11.

Paterson C, McAllion S, Miller R . Heterogeneity of osteogenesis imperfecta type I. J Med Genet. 1983; 20(3):203-5. PMC: 1049046. DOI: 10.1136/jmg.20.3.203. View

12.

Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J . A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012; 91(2):349-57. PMC: 3415541. DOI: 10.1016/j.ajhg.2012.06.011. View

13.

Emery S, Karpinski N, Hansen L, Masliah E . Abnormalities in central nervous system development in osteogenesis imperfecta type II. Pediatr Dev Pathol. 1999; 2(2):124-30. DOI: 10.1007/s100249900100. View

14.

Kuurila K, Kaitila I, Johansson R, Grenman R . Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. Ann Otol Rhinol Laryngol. 2002; 111(10):939-46. DOI: 10.1177/000348940211101014. View

15.

Sillence D, Senn A, Danks D . Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979; 16(2):101-16. PMC: 1012733. DOI: 10.1136/jmg.16.2.101. View

16.

Sillence D . Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation. Pediatr Radiol. 1994; 24(6):427-30. DOI: 10.1007/BF02011910. View

17.

Warman M, Cormier-Daire V, Hall C, Krakow D, Lachman R, Lemerrer M . Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011; 155A(5):943-68. PMC: 3166781. DOI: 10.1002/ajmg.a.33909. View

18.

Radunovic Z, Wekre L, Diep L, Steine K . Cardiovascular abnormalities in adults with osteogenesis imperfecta. Am Heart J. 2011; 161(3):523-9. DOI: 10.1016/j.ahj.2010.11.006. View

19.

Hanagata N, Li X, Morita H, Takemura T, Li J, Minowa T . Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice. J Bone Miner Metab. 2010; 29(3):279-90. DOI: 10.1007/s00774-010-0221-0. View

20.

Glorieux F, Bishop N, Plotkin H, Chabot G, Lanoue G, Travers R . Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. 1998; 339(14):947-52. DOI: 10.1056/NEJM199810013391402. View