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

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 patt...

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Bibliographic Details
Published in:	Acta otorrinolaringologica espanola Vol. 64; no. 6; p. 423
Main Authors:	Pereira da Silva, Ana, Feliciano, Telma, Figueirinhas, Rosário, Almeida E Sousa, Cecília
Format:	Journal Article
Language:	English Spanish
Published:	Spain 01-11-2013
Subjects:	Adult Female Hearing Loss - etiology Hearing Loss - genetics Humans Male Osteogenesis Imperfecta - complications Osteogenesis Imperfecta - genetics Hipoacusia Osteogenesis imperfecta Bony alterations Alteraciones óseas Osteogénesis imperfecta Hearing loss
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Summary:	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.
ISSN:	1988-3013
DOI:	10.1016/j.otorri.2013.02.007