Osteogenesis Imperfecta

Horacio Plotkin, Dragan Primorac, David Rowe

Research output: Chapter in Book/Report/Conference proceedingChapter

28 Citations (Scopus)

Abstract

This chapter discusses osteogenesis imperfecta (OI), which is a heterogeneous condition characterized by bone fragility. OI is caused by numerous different mutations, with at least 10 different clinical forms, effective symptomatic treatment, and exciting prospects for gene therapy. The prevalence of OI is estimated to be 1 in 15,000-20,000 infants, but misdiagnosis is frequent because it is a heterogeneous condition. OI has served as a paradigm for heritable disease of connective tissue from which advances in molecular diagnosis, mode of inheritance, and new concepts of therapy have been applied. In the vast majority of cases, mutations within the COLIA1 or COLIA2 genes are responsible for the phenotype, although it is now recognized that mutations in other genetic loci can produce a similar clinical outcome. The hallmark of OI is brittle bones. All other characteristics of OI are variable, with heterogeneity even in different members of the same family. Wormian bones are present in the skull in approximately 60% cases, although they can be present in other conditions, such as progeria, cleidocranial dysplasia, Menkes syndrome, and cutis laxa.

Original languageEnglish (US)
Title of host publicationPediatric Bone: Biology & Diseases
PublisherElsevier Inc.
Pages443-471
Number of pages29
ISBN (Print)9780122865510
DOIs
StatePublished - Sep 2003

Fingerprint

Osteogenesis Imperfecta
Bone
Gene therapy
Bone and Bones
Mutation
Cutis Laxa
Genes
Cleidocranial Dysplasia
Progeria
Menkes Kinky Hair Syndrome
Tissue
Genetic Loci
Connective Tissue Diseases
Diagnostic Errors
Skull
Genetic Therapy
Phenotype
Therapeutics

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Plotkin, H., Primorac, D., & Rowe, D. (2003). Osteogenesis Imperfecta. In Pediatric Bone: Biology & Diseases (pp. 443-471). Elsevier Inc.. https://doi.org/10.1016/B978-012286551-0/50020-8
Plotkin, Horacio ; Primorac, Dragan ; Rowe, David. / Osteogenesis Imperfecta. Pediatric Bone: Biology & Diseases. Elsevier Inc., 2003. pp. 443-471
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Plotkin, H, Primorac, D & Rowe, D 2003, Osteogenesis Imperfecta. in Pediatric Bone: Biology & Diseases. Elsevier Inc., pp. 443-471. https://doi.org/10.1016/B978-012286551-0/50020-8

Osteogenesis Imperfecta. / Plotkin, Horacio; Primorac, Dragan; Rowe, David.

Pediatric Bone: Biology & Diseases. Elsevier Inc., 2003. p. 443-471.

Research output: Chapter in Book/Report/Conference proceedingChapter

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Plotkin H, Primorac D, Rowe D. Osteogenesis Imperfecta. In Pediatric Bone: Biology & Diseases. Elsevier Inc. 2003. p. 443-471 https://doi.org/10.1016/B978-012286551-0/50020-8