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

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

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.

Keywords: Fragilitas ossium, Osteogenesis imperfecta/therapy, Skeletal radiography
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How to Cite
Goyal, S., Meena, P., Mehrotra, J., Malvia, S., Rawat, R., Meena, M., & Dodiyar, R. ( ). Brittle bone disease - A rare genetic disorder: A case report. Indian Journal of Child Health, 5(8), 551-553. Retrieved from https://atharvapub.net/IJCH/article/view/1108
Section
Case Reports

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