Analysis of the genetic disorder osteogenesis imperfecta.

  • Juan Alberto Viteri Rodríguez Universidad Regional Autónoma de Los Andes
  • Karen Daniela Salazar Pullutacsi Universidad Regional Autónoma de Los Andes
  • Gabriela Alexandra Villacis Paredes Universidad Regional Autónoma de Los Andes
Keywords: collagen deficiency, bone fragility, newborns

Abstract

The research aims to offer all the useful and necessary information about osteogenesis imperfecta, which is a very rare genetic disorder caused by a defect in the formation of collagen, causing bone fragility in newborn children, and in severe cases. it can cause death. The work was a bibliographic search in search engines, which provide updated information on the subject of study. It is concluded that osteogenesis imperfecta is a genetic pathology that occurs in a very small group of newborns in Ecuador, and unfortunately, there is no database with the exact cases that exist, which shows insufficient knowledge on the subject.

Published
2023-01-01