Language
English
Publication Date
12-1-2024
Journal
Calcified Tissue International
DOI
10.1007/s00223-024-01236-x
PMID
38836890
PMCID
PMC11606788
PubMedCentral® Posted Date
12-1-2025
PubMedCentral® Full Text Version
Author MSS
Abstract
Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clinical manifestations most commonly due to abnormalities in production, structure, or post-translational modification of type I collagen. Until recently, most research in OI has focused on the pediatric population and much less attention has been directed at the effects of OI in the adult population. This is a narrative review of the literature focusing on the skeletal as well as non-skeletal manifestations in adults with OI that may affect the aging individual. We found evidence to suggest that OI is a systemic disease which involves not only the skeleton, but also the cardiopulmonary and gastrointestinal system, soft tissues, tendons, muscle, and joints, hearing, eyesight, dental health, and women's health in OI and potentially adds negative affect to health-related quality of life. We aim to guide clinicians as well as draw attention to obvious knowledge gaps and the need for further research in adult OI.
Keywords
Adult, Female, Humans, Bone and Bones, Osteogenesis Imperfecta, Quality of Life
Published Open-Access
yes
Recommended Citation
Hald, Jannie Dahl; Langdahl, Bente; Folkestad, Lars; et al., "Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood" (2024). Faculty and Staff Publications. 5007.
https://digitalcommons.library.tmc.edu/baylor_docs/5007
Included in
Genetic Phenomena Commons, Genetic Processes Commons, Genetic Structures Commons, Medical Genetics Commons, Medical Molecular Biology Commons, Medical Specialties Commons