title: Osteogenesis imperfecta and hearing loss--description of three case reports.
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.
authors.affiliation: Resident from Otorhinolaryngology Department, Centro Hospitalar do Porto, Porto, Portugal. Electronic address: anacostapsilva@gmail.com.
authors.forename: Ana
authors.initials: A
authors.lastname: Pereira da Silva
authors.forename: Telma
authors.initials: T
authors.lastname: Feliciano
authors.forename: Rosário
authors.initials: R
authors.lastname: Figueirinhas
authors.forename: Cecília
authors.initials: C
authors.lastname: Almeida E Sousa
mesh_terms: D000328:Adult; D005260:Female; D034381:Hearing Loss / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008297:Male; D010013:Osteogenesis Imperfecta / Q000150:complications* / Q000235:genetics
keywords: Alteraciones óseas; Bony alterations; Hearing loss; Hipoacusia; Osteogenesis imperfecta; Osteogénesis imperfecta