JOURNAL ARTICLE
REVIEW

Osteogenesis Imperfecta

Justin Easow Sam, Mala Dharmalingam
Indian Journal of Endocrinology and Metabolism 2017, 21 (6): 903-908
29285457
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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