Brittle bone disease - A rare genetic disorder: A case report

Authors

  • Suresh Goyal
  • Pradeep Meena
  • Juhi Mehrotra
  • Sunny Malvia
  • Ravi Rawat
  • Mahendra Meena
  • Roshani Dodiyar

DOI:

https://doi.org/10.32677/IJCH.2018.v05.i08.011

Keywords:

Fragilitas ossium, Osteogenesis imperfecta/therapy, Skeletal radiography

Abstract

Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the hallmark of excessive fragility of bones caused by mutations in collagen characterized by remarkable soft and large cranium and short-curved limbs. Radiological findings, such as, under mineralization of skull, platyspondyly, severely short and deformed long bones, and small continuously beaded ribs, pathognomonic for OI, were observed. Considering the clinical/radiological manifestations, a diagnosis of OI was made.

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Published

2018-08-25

Issue

Section

Case Reports

How to Cite

Brittle bone disease - A rare genetic disorder: A case report. (2018). Indian Journal of Child Health, 5(8), 551-553. https://doi.org/10.32677/IJCH.2018.v05.i08.011