G. Grisanti, WORLDWIDE ANALYSIS AND COLLECTION CENTER FOR DATA ON SYNDROMIC GENETIC HEARING-LOSS - A NEW PROPOSAL, Scandinavian audiology, 25, 1996, pp. 23-25
The remarkable number of syndromic genetic hearing loss (about 150), t
he extreme variety of clinical signs that can be associated with the h
earing loss, and the different possible conbinations make the diagnosi
s od syndromic genetic haering loss sometimes very difficult and motiv
ated the development of an expert system (G-DEAFNEX). A collection cen
tre is proposed: to act as a referral centre, for patients with suspec
ted 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 Internati
onal in a worldwide epidemiological study on syndromic genetic hearing
loss; to refine the G-DEAFNEX expert system.