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Year : 2017  |  Volume : 21  |  Issue : 6  |  Page : 903-908

Osteogenesis imperfecta


Department of Endocrinology, Ramaiah Medical College, Bengaluru, Karnataka, India

Correspondence Address:
Mala Dharmalingam
Department of Endocrinology, Ramaiah Medical College, MSRIT Post, Bengaluru - 560 054, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijem.IJEM_220_17

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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.


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