Abstract
Osteogenesis imperfecta (OI) is a generalized, hereditary disorder of connective tissue involving bone, tendon, ligament, fascia, and dentin, resulting from mutations affecting the amount or structure of type I collagen. OI affects about 1 in 10,000 individuals.
Similar content being viewed by others
References
Bachrach, L. K. (2007). Consensus and controversy regarding osteoporosis in the pediatric population. Endocrine Practice, 13, 513–520.
Basel, D., & Steiner, R. D. (2009). Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition. Genetics in Medicine, 11, 375–385.
Becker, J., Semler, O., Gilissen, C., et al. (2011). Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. American Journal of Human Genetics, 88, 362–371.
Bembi, B., Parma, A., Bottega, M., et al. (1997). Intravenous pamidronate treatment in osteogenesis imperfecta. Journal of Pediatrics, 131, 622–625.
Beyers, P. H., Wallis, G. A., & Willing, M. C. (1991). Osteogenesis imperfecta: Translation of mutation to phenotype. Journal of Medical Genetics, 28, 433–442.
Biggin, A., & Munns, C. F. (2014). Osteogenesis imperfecta: Diagnosis and treatment. Current Osteoporosis Reports, 12, 279–288.
Binder, H., Conway, A., Hason, S., et al. (1993). Comprehensive rehabilitation of the child with osteogenesis imperfecta. American Journal of Medical Genetics, 45, 265–269.
Byers, P. H., & Pyott, S. M. (2012). Recessively inherited forms of osteogenesis imperfecta. Annual Review of Genetics, 46, 475–497.
Cabral, W. A., Makareeva, E., Letocha, A. D., et al. (2007). Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. Human Mutation, 28, 396–405.
Chan, J. K., & Götherström, C. (2014). Prenatal transplantation of mesenchymal stem cells to treat osteogenesis imperfecta. Frontiers in Pharmacology, 5, 223.
Cheung, M. S., Glorieux, F. H., & Rauch, F. (2007). Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. Journal of Bone and Mineral Research, 22, 1181–1186.
Cho, T. J., Lee, K. E., Lee, S. K., Song, S. J., Kim, K. J., Jeon, D., et al. (2012). A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V. American Journal of Human Genetics, 91, 343–348.
Cohn, D. H., Starman, B. J., Blumberg, B., et al. (1990). Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COLIAI). American Journal of Human Genetics, 46, 591–601.
Cole, W. G. (1988). Orthopaedic treatment of osteogenesis imperfecta. Annals of the New York Academy of Sciences, 543, 157–166.
Cole, W. G. (1993). Early surgical management of severe forms of osteogenesis imperfecta. American Journal of Medical Genetics, 45, 270–274.
Cole, W. G. (1997). The molecular pathology of osteogenesis imperfecta. Clinical Orthopaedics, 343, 235–248.
Cole, W. G., & Dalgleish, R. (1995). Perinatal lethal osteogenesis imperfecta. Journal of Medical Genetics, 32, 284–289.
Fassier, A. M., Rauch, F., Aarabi, M., et al. (2007). Radial head dislocation and subluxation in osteogenesis imperfecta. Journal of Bone & Joint Surgery America, 89, 2694–2704.
Fratzl-Zelman, N., Misof, B. M., Roschger, P., et al. (2015). Classification of osteogenesis imperfecta. Wiener Medizinische Wochenschrift, 165, 264–270.
Glorieux, F. H. (2000). Bisphosphonate therapy for severe osteogenesis imperfecta. Journal of Pediatric Endocrinology & Metabolism, 13(Suppl), 989–992.
Glorieux, F. H. (2008). Osteogenesis imperfecta. Best Practice & Research. Clinical Rheumatology, 22, 85–100.
Glorieux, F. H., Rauch, F., Plotkin, H., et al. (2000). Type V osteogenesis imperfecta: A new form of brittle bone disease. Journal of Bone and Mineral Research, 15, 1650–1658.
Glorieux, F. H., Ward, L. M., Rauch, F., et al. (2002). Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect. Journal of Bone and Mineral Research, 17, 30–38.
Götherström, C., Westgren, M., Steen Shaw, S. W., et al. (2014). Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: A two-center experience. Stem Cells Translational Medicine, 3, 255–264.
Horwitz, E. M., Prockop, D. J., Gordon, P. L., et al. (2001). Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood, 97, 1227–1231.
Huang, R. P., Ambrose, C. G., Sullivan, E., et al. (2006). Functional significance of bone density measurements in children with osteogenesis imperfecta. Journal of Bone & Joint Surgery America, 88, 1324–1330.
Kleinman, P. K. (1990). Diagnostic imaging in infant abuse. AJR. American Journal of Roentgenology, 155, 703–712.
Labuda, M., Morissette, J., Ward, L. M., et al. (2002). Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone, 31, 19–25.
Lee, Y.-S., Low, S. L., Lim, L. A., et al. (2001). Cyclic pamidronate infusion improves bone mineralisation and reduces fracture incidence in osteogenesis imperfecta. European Journal of Pediatrics, 160, 641–644.
Lee, D. Y., Cho, T. J., Choi, I. H., et al. (2006). Clinical and radiological manifestations of osteogenesis imperfecta type V. Journal of Korean Medical Science, 21, 709–714.
Lund, A. M., Schwartz, M., & Skovby, F. (1996). Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism. Prenatal Diagnosis, 16, 1032–1038.
Lynch, J. R., Ogilvie, D., Priestly, L., et al. (1991). Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele. Journal of Medical Genetics, 28, 145–150.
Makareeva, E., Cabral, W. A., Marini, J. C., et al. (2006). Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: Unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. The Journal of Biological Chemistry, 281, 6463–6470.
Malfait, F., Symoens, S., Coucke, P., et al. (2006). Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. Journal of Medical Genetics, 43, e36.
Malfait, F., Symoens, S., Be Backer, J., et al. (2007). Three arginine to cysteine substitutions in the pro-alpha (1)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Human Mutation, 28, 387–395.
Minch, C. M., & Kruse, R. W. (1998). Osteogenesis imperfecta: A review of basic science and diagnosis. Orthopedics, 21, 558–567 (published erratum appears in Orthopedics 21:842, 1998).
Morello, R., Bertin, T. K., Chen, Y., et al. (2006). CRTAP is required for prolyl 3 hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell, 127, 291–304.
Nuytinck, L., Sayli, B. S., Karen, W., et al. (1999). Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. Prenatal Diagnosis, 19, 873–875.
Pepin, M., Atkinson, M., Starman, B. J., et al. (1997). Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: A review of biochemical and molecular studies completed in 129 pregnancies. Prenatal Diagnosis, 17, 559–570.
Plotkin, H., Rauch, F., Bishop, N. J., et al. (2000). Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. Journal of Clinical Endocrinology and Metabolism, 85, 1846–1849.
Rauch, F., & Glorieux, F. H. (2004). Osteogenesis imperfecta. Lancet, 363, 1377–1385.
Semler, O., Netzer, C., Hoyer-Kuhn, H., et al. (2012). First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI. Journal of Musculoskeletal and Neuronal Interactions, 12, 183–188.
Shapiro, J. R., & Sponsellor, P. D. (2009). Osteogenesis imperfecta: Questions and answers. Current Opinion in Pediatrics, 21, 709–716.
Shapiro, J. R., Lietman, C., Grover, M., et al. (2013). Phenotypic variability of osteogenesis imperfecta type V cuased by an IFITM5 mutation. Journal of Bone and Mineral Research, 28, 1523–1530.
Sillence, D. O. (1981). Osteogenesis imperfecta: An expanding panorama of variants. Clinical Orthopaedics and Related Research, 159, 11–25.
Sillence, D. O. (1988). Osteogenesis imperfecta nosology and genetics. Annals of the New York Academy of Sciences, 543, 1–15.
Sillence, D. O., Senn, A., & Danks, D. M. (1979). Genetic heterogeneity in osteogenesis imperfecta. Journal of Medical Genetics, 16, 101–116.
Sillence, D. O., Barlow, K. K., Garber, A. P., et al. (1984). Osteogenesis imperfecta type II: Delineation of the phenotype with reference to genetic heterogeneity. American Journal of Medical Genetics, 17, 407–423.
Sillence, D. O., Barlow, K. K., Cole, W. G., et al. (1986). Osteogenesis type III: Delineation of phenotype with reference to genetic heterogeneity. American Journal of Medical Genetics, 23, 821–832.
Sinder, B. P., Eddy, M. M., Ominsky, M. S., et al. (2013). Sclerostin antibody improves skeletal parameters in a Brtl/+mouse model of osteogenesis imperfecta. Journal of Bone and Mineral Research, 28, 73–80.
Spranger, J. W., Brill, P. W., & Poznanski, A. (2002). Bone dysplasias. An atlas of genetic disorders of skeletal development (2nd ed.). Oxford: Oxford University Press.
Steiner, R. D., Pepin, M., & Byers, P. H. (1996). Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. Journal of Pediatrics, 128, 542–547.
Thompson, E. M., Young, I. K., Hall, C. M., et al. (1987). Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. Journal of Medical Genetics, 24, 390–405.
van Dijk, F. S., Nesbitt, I. M., Zwikstra, E. H., et al. (2009). PPIB mutations cause severe osteogenesis imperfecta. American Journal of Human Genetics, 85, 521–527.
Ward, L. M., Rauch, F., Travers, R., et al. (2002). Osteogenesis imperfecta type VII: An autosomal recessive form of brittle bone disease. Bone, 31, 12–18.
Willaert, A., Malfait, F., Symoens, S., et al. (2009). Recessive osteogenesis imperfecta caused by LEPRE1 mutations: Clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. Journal of Medical Genetics, 46, 233–241.
Young, I. D., Thompson, E. M., Hall, C. M., et al. (1987). Osteogenesis imperfecta type IIA: Evidence for dominant inheritance. Journal of Medical Genetics, 24, 386–389.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
Copyright information
© 2015 Springer Science+Business Media New York
About this entry
Cite this entry
Chen, H. (2015). Osteogenesis Imperfecta. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_185-2
Download citation
DOI: https://doi.org/10.1007/978-1-4614-6430-3_185-2
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Online ISBN: 978-1-4614-6430-3
eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences