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Hereditary Hearing Loss and Its Syndromes (Oxford
Monographs on Medical Genetics)
BOOK DETAIL
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business account Series: Oxford Monographs on Medical Genetics (Book 50) Hardcover: 528 pages
Publisher: Oxford University Press; 2 edition (February 19, 2004) Language: English ISBN-10: 019513849X
ISBN-13: 978-0195138498 Product Dimensions: 11.3 x 1.2 x 8.7 inches
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Book Description
Genetic deafness affects 1 in 1000 children, and over the last decade several dozen of the
responsible genes have been identified. This unique textbook aims to assist clinicians dealing with
deaf patients and families by critically reviewing all relevant published material on genetics,
pathology, clinical presentation, diagnosis, and laboratory findings. Thoroughly revised, the
Second Edition has been updated throughout and includes a new chapter on hearing loss with
cardiovascular disorders. It continues with the successful formula of presenting separate chapters
on deafness associated with findings in specific body systems. Careful attention to cross
referencing between chapters means that the multifaceted clinical presentations of distinct
conditions are highlighted. These clinical variations are complemented by excellent clinical
photographs, audiograms, figures from essential laboratory or other investigations, and
comprehensive reference lists. Gene mutations that cause deafness are highlighted throughout the
text, both in chapters dealing with syndromes and in a vastly expanded chapter focusing
specifically on nonsyndromic forms of deafness. Thus, the new edition reflects all the progress on
the molecular understanding of deafness made in recent years and integrates these findings into
clinical practice. It also makes an important contribution to the cataloguing of new syndromes that
have emerged in recent years, such as HIDS and X-linked maxillofacial dysostosis.

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