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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Fragile bones and fragile ears.

Conductive, sensorineural and mixed hearing loss occur in osteogenesis imperfecta in autosomal dominant inheritance pattern. Hearing loss is generally due to the middle and inner ear pathology of osteogenesis imperfecta and only occasionally to the coincidental association of otosclerosis and osteogenesis imperfecta. Two lesions cause the conductive hearing loss of osteogenesis imperfecta: (1) functional ossicular discontinuity due either to stapes superstructure fracture or fibrous replacement, or (2) thick, crumbly, lightly fixed stapes footplate. Cochlear hair cell loss, stria vascularis atrophy and calcification, tectorial membrane distortion and perilymph hemorrhage are autopsy findings that could account for sensorineural hearing loss, which occurs in a surprisingly high percentage of osteogenesis imperfecta patients. Hearing loss occurs earlier in osteogenesis imperfecta than in otosclerosis. Distinctive acoustic impedance and X-ray abnormalities occur in osteogenesis imperfecta. Other otologic findings may include lopped pinna, notching of the helix of the pinna, rosy flush of the medial wall of the middle ear and vestibular abnormalities.[1]


  1. Fragile bones and fragile ears. Bergstrom, L. Clin. Orthop. Relat. Res. (1981) [Pubmed]
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