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

01-OCT-08 – 30-SEP-12

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.