Grisanti G
Department of Audiology, University of Palermo, Italy.
Scand Audiol Suppl. 1996;42:23-5.
The remarkable number of syndromic genetic hearing loss (about 150), the extreme variety of clinical signs that can be associated with the hearing loss, and the different possible combinations make the diagnosis od syndromic genetic hearing loss sometimes very difficult and motivated the development of an expert system (G-DEAFNEX). A collection centre is proposed: to act as a referral centre, for patients with suspected syndromic genetic hearing loss, that aids the diagnostic procedure; to act as a centre for the collection of data on patients with known syndromic genetic hearing loss; to collaborate with Hearing International in a worldwide epidemiological study on syndromic genetic hearing loss; to refine the G-DEAFNEX expert system.
综合征性遗传性听力损失的数量惊人（约150种），与听力损失相关的临床症状极为多样，以及不同的可能组合，使得综合征性遗传性听力损失的诊断有时非常困难，并推动了专家系统（G-DEAFNEX）的开发。提议设立一个收集中心：作为疑似综合征性遗传性听力损失患者的转诊中心，协助诊断程序；作为已知综合征性遗传性听力损失患者数据的收集中心；与国际听力协会合作开展关于综合征性遗传性听力损失的全球流行病学研究；完善G-DEAFNEX专家系统。
