Hearing and middle ear function in osteogenesis imperfecta
J. R. Shapiro, A. Pikus, G. Weiss and D. W. Rowe
Fifty-five patients with osteogenesis imperfecta (OI) were studied to
determine the extent to which the peripheral auditory mechanisms share in
the connective tissue lesion. Ninety-two unaffected relatives and 43
control subjects were also studied. Subjects were divided into age groups
younger than and older than 30 years. Hearing loss, most frequently
sensorineural, occurred in 49% (younger than 30 years) and 94% (older than
30 years) of patients with OI. A sensorineural pattern of hearing loss,
here considered characteristic of OI, was observed in 47% of OI subjects
irrespective of age, in 42% of relatives, and 5% of controls. Middle ear
analysis by tympanometry and acoustic reflex analysis indicates that,
although some patients with OI have a still middle ear system similar to
that seen in otosclerosis, the majority display absent acoustic reflexes
and increased compliance of the middle ear with notched tympanograms
suggestive of anomalous ossicular articulation. Similar findings in
otherwise uninvolved relatives suggest a genetic basis for these defects.
