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Genetic Hearing Impairment

Its Clinical Presentations

Editor(s): Cremers C.W.R.J. (Nijmegen) 
Smith R.J.H. (Iowa City, Iowa) 

Status: available   
Publication year: 2002
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This book belongs to
Advances in Oto-Rhino-Laryngology , Vol. 61
Editor(s): Bradley  P.J. (Nottingham) 
XIV + 248 p., 79 fig., 23 tab., hard cover, 2002
Status: available   
ISSN: 0065-3071
e-ISSN: 1662-2847

Presenting the phenotype of genetic non-syndromic and the most frequent syndromic types of hearing impairment
A decade of innovative findings in the research of molecular biology of hearing and deafness is reflected in this volume. The genetic causes for many types of syndromic and non-syndromic deafness are identified and genotypic-phenotypic relationships are explored. Although the type and degree of deafness caused by mutations in different genes significantly overlap, relatively unique age-related audiometric profiles are also emerging. For example, the audioprofile of DFNA1 and DFNA6-14 is a low-frequency sensorineural hearing loss; with DFNA8-14 it is a mid-frequency sensorineural hearing loss, and with DFNA2, DFNA5 and DFNA20-26 it is a high-frequency progressive hearing loss. Recognizing such audioprofiles can facilitate well-guided decision-making in clinical practice and can direct genetic testing for deafness. With an accurate genetic diagnosis, prognostic information can be provided to patients and their families. In the future, gene-specific habilitation options may also become available.

To keep up to date with new clinical standards of diagnosing genetic hearing impairment, this book is indispensable reading to otorhinolaryngologists and audiologists.