Osteogenesis Imperfecta
- PMID: 29285457
- PMCID: PMC5729682
- DOI: 10.4103/ijem.IJEM_220_17
Osteogenesis Imperfecta
Abstract
Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI-XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from fibroblasts. The mainstay of treatment is bisphosphonate therapy. The prognosis is variable.
Keywords: Bisphosphonate; collagen; osteogenesis imperfecta.
Conflict of interest statement
There are no conflicts of interest.
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