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.

Published

2018-08-25

How to Cite

Goyal, S., Meena, P., Mehrotra, J., Malvia, S., Rawat, R., Meena, M., & Dodiyar, R. (2018). Brittle bone disease - A rare genetic disorder: A case report. Indian Journal of Child Health, 5(8), 551-553. https://doi.org/10.32677/IJCH.2018.v05.i08.011

Issue

Section

Case Reports