Skeletal Manifestations of Osteogenesis Imperfecta

Abstract

The skeletal manifestations of osteogenesis imperfecta are investigated. The antenatal and postnatal diagnosis of the disease is briefly mentioned and the characteristic appearances of bone deformities are analyzed in detail. The distinctive bony manifestations of osteogenesis imperfecta are illustrated using typical examples. Finally, we comment on the differential diagnosis.

Keywords

osteogenesis imperfecta - skeletal manifestations - antenatal diagnosis - postnatal diagnosis - radiographs

• References

• 1 Marini JC. Osteogenesis imperfecta: comprehensive management. Adv Pediatr 1988; 35: 391-426
• 2 Byers PH, Steiner RD. Osteogenesis imperfecta. Annu Rev Med 1992; 43: 269-282
• 3 Marini JC. Osteogenesis Imperfecta. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders; 2011: Chapter 692
• 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, Forlino A, Cabral WA , et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 2007; 28 (3) 209-221
• 6 Ben Amor M, Rauch F, Monti E, Antoniazzi F. Osteogenesis imperfecta. Pediatr Endocrinol Rev 2013; 10 (Suppl. 02) 397-405
• 7 Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16 (2) 101-116
• 8 Barsh GS, David KE, Byers PH. Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen. Proc Natl Acad Sci U S A 1982; 79 (12) 3838-3842
• 9 Sykes B, Francis MJ, Smith R. Altered relation of two collagen types in osteogenesis imperfecta. N Engl J Med 1977; 296 (21) 1200-1203
• 10 Glorieux FH. Osteogenesis imperfecta. Best Pract Res Clin Rheumatol 2008; 22 (1) 85-100
• 11 Rauch F, Tutlewski B, Schönau E. The bone behind a low areal bone mineral density: peripheral quantitative computed tomographic analysis in a woman with osteogenesis imperfecta. J Musculoskelet Neuronal Interact 2002; 2 (4) 306-308
• 12 Rauch F, Plotkin H, Zeitlin L, Glorieux FH. Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy. J Bone Miner Res 2003; 18 (4) 610-614
• 13 Weber M, Roschger P, Fratzl-Zelman N , et al. Pamidronate does not adversely affect bone intrinsic material properties in children with osteogenesis imperfecta. Bone 2006; 39 (3) 616-622
• 14 Boyde A, Travers R, Glorieux FH, Jones SJ. The mineralization density of iliac crest bone from children with osteogenesis imperfecta. Calcif Tissue Int 1999; 64 (3) 185-190
• 15 Brons JT, van der Harten HJ, Wladimiroff JW , et al. Prenatal ultrasonographic diagnosis of osteogenesis imperfecta. Am J Obstet Gynecol 1988; 159 (1) 176-181
• 16 Ruano R, Molho M, Roume J, Ville Y. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol 2004; 24 (2) 134-140
• 17 Bulas DI, Stern HJ, Rosenbaum KN, Fonda JA, Glass RB, Tifft C. Variable prenatal appearance of osteogenesis imperfecta. J Ultrasound Med 1994; 13 (6) 419-427
• 18 Renaud A, Aucourt J, Weill J , et al. Radiographic features of osteogenesis imperfecta. Insights Imaging 2013; 4 (4) 417-429
• 19 Zionts LE, Moon CN. Olecranon apophysis fractures in children with osteogenesis imperfecta revisited. J Pediatr Orthop 2002; 22 (6) 745-750
• 20 Tamborlane JW, Lin DY, Denton JR. Osteogenesis imperfecta presenting as simultaneous bilateral tibial tubercle avulsion fractures in a child: a case report. J Pediatr Orthop 2004; 24 (6) 620-622
• 21 Ivo R, Fuerderer S, Eysel P. Spondylolisthesis caused by extreme pedicle elongation in osteogenesis imperfecta. Eur Spine J 2007; 16 (10) 1636-1640
• 22 Semler O, Cheung MS, Glorieux FH, Rauch F. Wormian bones in osteogenesis imperfecta: correlation to clinical findings and genotype. Am J Med Genet A 2010; 152A (7) 1681-1687
• 23 Bachrach LK, Sills IN ; Section on Endocrinology. Clinical report: bone densitometry in children and adolescents. Paediatrics 2011; 127 (1) 189-195