Brittle bone brothers: osteogenesis imperfecta conventional serial case

Marsha Ruthy Darmawan; Elysanti Dwi Martadiani

doi:10.15562/ism.v12i1.846

Brittle bone brothers: osteogenesis imperfecta conventional serial case

Marsha Ruthy Darmawan ,

Elysanti Dwi Martadiani ,

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DOI: https://doi.org/10.15562/ism.v12i1.846 |
Published: 2021-04-01

Abstract

Background: Osteogenesis Imperfecta (OI) is a heredity connective tissue disorder due to COL1A1/2 gene mutation, causing a defect in encoding proteins to metabolize collagen. One of OI’s manifestations to musculoskeletal is bone incompetence, hence the name Brittle bone disease. We report three cases of OI type IV in adults with pathognomonic radiology findings.

Case Presentation: In Case 1, a 40-year-old Indonesian male came to the hospital with small stature and unsuited with his age. Conventional radiology examination found OI on all four extremities, anterior dislocation of left shoulder, and old fracture with an acute angle in the left radial shaft. In Case 2, a 41-year-old Indonesian male came to the hospital with short stature, causing limitation to his activities, and he confessed always to be shorter than people his age. Radiology evaluation suggests an OI in bilateral superior and inferior extremities, old fractures in the right humeral shaft also the left clavicle, acute angles right radius-ulna shaft, and osteoporosis in all visualized bones. In addition, in Case 3, a 42-year-old Indonesian male came to the hospital with short stature and pain within his bones, causing limitation to his activity. Conventional radiology imaging shows bilateral superior and inferior extremities, old fracture in the medial third of the left humerus and bilateral femur, acute-angled bilateral antebrachial-femur-cruris, and osteoporosis

Conclusion: Based on OI categorization, only type I and IV can live to adulthood, and the same type of OI can be found in siblings. Conventional radiology imaging provides a great help in diagnosing OI.

References

van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, et al. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet. 2012;20(1):11-9.
Pollitt R, McMahon R, Nunn J, Bamford R, Afifi A, Bishop N, et al. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. Hum Mutat. 2006;27(7):716.
Forlino A, Marini JC. Osteogenesis imperfecta. Lancet. 2016;387(10028):1657-1671.
Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011;7(9):540-557.
Marini JC, Blissett AR. New genes in bone development: what's new in osteogenesis imperfecta. J Clin Endocrinol Metab. 2013;98(8):3095-3103.
Sillence DO, Rimoin DL, Danks DM. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser. 1979;15(5B):113-129.
Scheres LJJ, van Dijk FS, Harsevoort AJ, van Dijk ATH, Dommisse AM, Janus GJM, et ak. Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements. Bone Rep. 2018;8:168-172.
Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A(6):1470-1481.
Bishop NJ, Walsh JS. Osteogenesis imperfecta in adults. J Clin Invest. 2014;124(2):476-477.
Moore MS, Minch CM, Kruse RW, Harcke HT, Jacobson L, Taylor A. The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop (Belle Mead NJ). 1998;27(12):797-801.
Kok DH, Sakkers RJ, Pruijs HE, Joosse P, Castelein RM. Bone mineral density in developing children with osteogenesis imperfecta: a longitudinal study with 9 years of follow-up. Acta Orthop. 2013;84(4):431-436.

[1] van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, et al. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet. 2012;20(1):11-9.

[2] Pollitt R, McMahon R, Nunn J, Bamford R, Afifi A, Bishop N, et al. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. Hum Mutat. 2006;27(7):716.

[3] Forlino A, Marini JC. Osteogenesis imperfecta. Lancet. 2016;387(10028):1657-1671.

[4] Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011;7(9):540-557.

[5] Marini JC, Blissett AR. New genes in bone development: what's new in osteogenesis imperfecta. J Clin Endocrinol Metab. 2013;98(8):3095-3103.

[6] Sillence DO, Rimoin DL, Danks DM. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser. 1979;15(5B):113-129.

[7] Scheres LJJ, van Dijk FS, Harsevoort AJ, van Dijk ATH, Dommisse AM, Janus GJM, et ak. Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements. Bone Rep. 2018;8:168-172.

[8] Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A(6):1470-1481.

[9] Bishop NJ, Walsh JS. Osteogenesis imperfecta in adults. J Clin Invest. 2014;124(2):476-477.

[10] Moore MS, Minch CM, Kruse RW, Harcke HT, Jacobson L, Taylor A. The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop (Belle Mead NJ). 1998;27(12):797-801.

[11] Kok DH, Sakkers RJ, Pruijs HE, Joosse P, Castelein RM. Bone mineral density in developing children with osteogenesis imperfecta: a longitudinal study with 9 years of follow-up. Acta Orthop. 2013;84(4):431-436.

Brittle bone brothers: osteogenesis imperfecta conventional serial case

Abstract

References

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