Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) (“brittle bone disease”)
is a heterogeneous group of clinically and
genetically different types of diseases with a
total frequency of at least 1 in 10 000 individuals.
Spontaneously occurring bone fractures,
bone deformity, small stature, defective dentition
(dentinogenesis imperfecta), hearing impairment
due to faulty formation of the auditory
ossicles, and blue sclerae (the fully
developed conjunctiva of the eye is thinner than
normal, so that refracted light is shifted toward
blue) occur in the various forms to different extents
and with different grades of severity, depending
on the type of mutation.