Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome

摘要: Long-term hearing threshold-on-age follow-up data, including non-linear regression analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's syndrome was confirmed by a mutation analysis the PDS gene in 11 out cases tested. Recent imaging temporal bones seven these patients showed widened vestibular aqueducts each case. diagnostic perchlorate test negative one patient, but this positive her affected sister. Mutation that is monogenetic disorder. Progressive sensorineural loss and characteristic features syndrome, which provides opportunity to diagnose clinically first few years life, as has recently been suggested case report (Cremers et al., widend aqueduct Arch. Otolaryngol. 124 (1998) 501-505). involved can be used confirm diagnosis.