Osteogenesis Imperfecta

OVERVIEW

Osteogenesis imperfecta is an autosomal dominant disease that causes defects in the gene coding for type I collagen.

WHAT MAKES US SUSPECT IT?

Initial Presentation:

  • Fetal/perinatal death
  • Intrauterine growth retardation

Physical Exam:

  • Blue slcerae
  • Multiple fractures causing limb deformity
ARCHIVE OF STANDARDIZED EXAM QUESTIONS 

This archive compiles standardized exam questions that relate to this topic.

 

Page Updated: 10.15.2016