You are rotating on your audiology elective and are asked to make a diagnosis in a
40-year-old woman who is complaining of bilateral hearing loss, which you confirm.
Your Weber test shows no lateralization and your Rene test shows that air conduction
is better than bone conduction. A picture of the woman is shown below.
What is your diagnosis, what test(s) would you order to confirm your diagnosis, and
what treatment, if any, do you recommend. What other abnormalities might you find
on a general physical examination?
DIAGNOSIS: Osteogenesis imperfecta (OI). OI is due to mutations in one of the two
genes that encode type I procollegen and is associated with blue sclera, osteopenia
with brittle bones, dental abnormalities (dentinogenesis imperfecta) and progressive
sensineuronal and/or conductive hearing loss. For unknown reasons the long bones can
be either thin or thick.
Note the blue sclera and bowing of the tibia and fibula.
.