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Published on: December 20, 2024
Osteogenesis imperfecta and hearing loss--description of three case reports
Ana Pereira da Silva1, Telma Feliciano, Rosário Figueirinhas
1Resident from Otorhinolaryngology Department, Centro Hospitalar do Porto, Porto, Portugal.
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.
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