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Review
. 2017 Nov-Dec;21(6):903-908.
doi: 10.4103/ijem.IJEM_220_17.

Osteogenesis Imperfecta

Justin Easow Sam  1 , Mala Dharmalingam  1
Affiliations
Review

Osteogenesis Imperfecta

Justin Easow Sam et al. Indian J Endocrinol Metab. 2017 Nov-Dec.

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.

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Conflict of interest statement

There are no conflicts of interest.

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