Audiological and genetic determination of hearing loss in patients with Osteogenesis Imperfecta

150 patients with Osteogenesis Imperfecta (OI) and identified pathogenetic collagen mutations are submitted to extensive audiological examination in order to characterize the hearing impairment associated with OI. A genotype-fenotype correlation will be studied to establish a relationship between the molecular defect and the hearing loss. Environmental influences and contribution of identified deafness genes on the hearing impairment in OI and similarities with otosclerosis are evaluated.