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Otol Neurotol. 2012 Dec;33(9):1562-6. doi: 10.1097/MAO.0b013e31826bf19b.

Otopathology in Osteogenesis Imperfecta.

Author information

1
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA. felipe_santos@meei.harvard.edu

Abstract

BACKGROUND:

Osteogenesis Imperfecta (OI) is a genetic disorder of connective tissue matrix. OI is caused by mutations that affect type I collagen. The hearing loss in OI is characterized by onset in early adulthood and can be conductive, sensorineural, or mixed.

OBJECTIVES:

To describe the temporal bone histopathology in 9 individuals with OI.

MATERIALS AND METHODS:

Four adult, 1 pediatric, and 4 infant specimens were identified. Temporal bones were removed at autopsy and studied using light microscopy.

RESULTS:

All adults and 1 pediatric specimen showed otosclerotic lesions. The findings included examples of clinical, histologic, and cochlear otosclerosis. The temporal bones of infants showed delayed ossification of the endochondral layer of bone and of the ossicles. There were no infant specimens with otosclerotic lesions.

CONCLUSION:

Hearing loss in OI may be the result of clinical or cochlear otosclerosis. Fracture or atrophy of the ossicles may also be present in OI. A third unidentified mechanism of hearing loss may lead to cochlear degeneration. The described findings of otosclerotic lesions have implications for the observed heterogeneity of hearing loss patterns and for the surgical management of hearing loss in OI.

PMID:
22996160
PMCID:
PMC3498599
DOI:
10.1097/MAO.0b013e31826bf19b
[Indexed for MEDLINE]
Free PMC Article

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