Otopathology in Osteogenesis Imperfecta.
Otol Neurotol
; 33(9): 1562-6, 2012 Dec.
Article
en En
| MEDLINE
| ID: mdl-22996160
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteogénesis Imperfecta
/
Otosclerosis
/
Hueso Temporal
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Otol Neurotol
Asunto de la revista:
NEUROLOGIA
/
OTORRINOLARINGOLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos