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Review
. 2013 Nov-Dec;64(6):423-7.
doi: 10.1016/j.otorri.2013.02.007. Epub 2013 Oct 16.

Osteogenesis imperfecta and hearing loss--description of three case reports

[Article in English, Spanish]
Ana Pereira da Silva  1 , Telma Feliciano, Rosário Figueirinhas, Cecília Almeida E Sousa
Affiliations
Free article
Review

Osteogenesis imperfecta and hearing loss--description of three case reports

[Article in English, Spanish]
Ana Pereira da Silva et al. Acta Otorrinolaringol Esp. 2013 Nov-Dec.
Free article

Abstract

Osteogenesis imperfecta is the commonest connective tissue hereditary disease. Its clinical presentation has a wide spectrum of characteristics, which includes skeletal deformities and hearing loss. We describe three case reports of individuals carriers of this disease presenting with different patterns of hearing loss. Hearing loss prevalence and patterns are variable and have no clear relation with genotype. Its assessment at initial evaluation and posterior monitoring is essential to provide the best therapeutic alternatives.

Keywords: Alteraciones óseas; Bony alterations; Hearing loss; Hipoacusia; Osteogenesis imperfecta; Osteogénesis imperfecta.

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