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Vol. 64. Issue 6.
Pages 423-427 (November - December 2013)
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Vol. 64. Issue 6.
Pages 423-427 (November - December 2013)
Brief Communication
DOI: 10.1016/j.otoeng.2013.05.002
Osteogenesis Imperfecta and Hearing Loss—Description of Three Case Reports
Osteogénesis imperfecta e hipoacusia. Descripción de 3 casos
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Ana Pereira da Silvaa,??
Corresponding author
anacostapsilva@gmail.com

Corresponding author.
, Telma Felicianob, Rosário Figueirinhasb, Cecília Almeida e Sousac
a Resident from Otorhinolaryngology Department, Centro Hospitalar do Porto, Porto, Portugal
b Attending Physician from Otorhinolaryngology Department, Centro Hospitalar do Porto, Porto, Portugal
c Head of Otorhinolaryngology Department, Centro Hospitalar do Porto, Porto, Portugal
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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:
Osteogenesis imperfecta
Hearing loss
Bony alterations
Resumen

La osteogénesis imperfecta es la enfermedad hereditaria del tejido conectivo más frecuente. Su presentación clínica tiene un amplio espectro de características, que incluyen deformidades esqueléticas e hipoacusia. Se describen 3 casos clínicos de pacientes portadores de esta enfermedad, que se presentan con diferentes patrones de hipoacusia.

La prevalencia y los patrones de la hipoacusia son variables y no tienen una relación clara con el genotipo. Su evaluación en la exploración inicial y posterior seguimiento es esencial para ofrecer las mejores alternativas terapéuticas.

Palabras clave:
Osteogénesis imperfecta
Hipoacusia
Alteraciones óseas

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