Hereditary Hearing Loss and Its Syndromes / Edition 2

Other Format (Print)
Used and New from Other Sellers
Used and New from Other Sellers
from $64.79
Usually ships in 1-2 business days
(Save 61%)
Other sellers (Other Format)
  • All (3) from $64.79   
  • New (1) from $123.45   
  • Used (2) from $64.79   
Sort by
Page 1 of 1
Showing All
Note: Marketplace items are not eligible for any coupons and promotions
Seller since 2008

Feedback rating:



New — never opened or used in original packaging.

Like New — packaging may have been opened. A "Like New" item is suitable to give as a gift.

Very Good — may have minor signs of wear on packaging but item works perfectly and has no damage.

Good — item is in good condition but packaging may have signs of shelf wear/aging or torn packaging. All specific defects should be noted in the Comments section associated with each item.

Acceptable — item is in working order but may show signs of wear such as scratches or torn packaging. All specific defects should be noted in the Comments section associated with each item.

Used — An item that has been opened and may show signs of wear. All specific defects should be noted in the Comments section associated with each item.

Refurbished — A used item that has been renewed or updated and verified to be in proper working condition. Not necessarily completed by the original manufacturer.


Ships from: Chicago, IL

Usually ships in 1-2 business days

  • Standard, 48 States
  • Standard (AK, HI)
Page 1 of 1
Showing All
Sort by


This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Read More Show Less

Editorial Reviews

From the Publisher

From reviews of the first edition:

"The target audience of this high quality book is very large. Both novice and experienced clinicians, medical geneticists, researchers and teachers will find an impressive wealth of information."--Trends in Genetics

"Although several books on genetic hearing impairment are available, this 2nd edition gives the most comprehensive and updated information and should -within the field- be considered 'the book'!!" --Audiological Medicine

"Hearing loss is perhaps the most prevalent of all the chronic diseases with over 20 million Americans suffering from hearing impairment severe enough to affect their ability to communicate...The publication of this book is cause for celebration...This book stands alone as a standard reference on hereditary hearing loss. It will be an essential tool for all otorhinolaryngologists, medical geneticists, and other health care workers serving those with hearing disorders and their families."--The New England Journal of Medicine

"This book is an invaluable source of information for otolaryngologists, clinical geneticists and all those who care for patients with deafness and congenital malformations. Like other volumes by the same authors, it is destined to become a 'classic'."--Annals of the Royal College of Physicians and Surgeons of Canada

"This reference is the most comprehensive book on the subject of hereditary deafness since Konigsmark and Gorlin's text, Genetic and Metabolic Deafness, published in 1976. This sequel has been long awaited by professionals and students in the fields of genetics, otolaryngology, and speech and hearing...An excellent reference which will prove to be an invaluable resource."--Journal of Genetic Counseling

Read More Show Less

Product Details

  • ISBN-13: 9780195138498
  • Publisher: Oxford University Press, USA
  • Publication date: 2/28/2004
  • Series: Oxford Monographs on Medical Genetics Series, #50
  • Edition description: REV
  • Edition number: 2
  • Pages: 528
  • Product dimensions: 11.30 (w) x 8.70 (h) x 1.20 (d)

Meet the Author

Helga V. Toriello received her PhD in genetics from Michigan State University. She is the Clinical Genetics Director of Spectrum Health and a Professor in the Department of Pediatrics and Human Development at Michigan State University.

Shelley D. Smith obtained her Ph.D. in Medical Genetics at Indiana University and is certified as a Ph.D. Medical Geneticist by the American Board of Medical Genetics. She is currently Professor and Chair of Developmental Neuroscience and Professor of Pediatrics at the University of Nebraska Medical Center. She has been active clinically and in research in the field of hereditary hearing loss for over 20 years.

Read More Show Less

Table of Contents

Contributors xix
1. Genetic Hearing Loss--A Brief History 1
2. Syndrome Diagnosis and Investigation in the Hearing-impaired Patient 3
3. Epidemiology, Etiology, Genetic Patterns, and Genetic Counseling 8
4. Embryology of the Ear 17
5. Genetic Hearing Loss with No Associated Abnormalities 37
Autosomal Dominant Nonsyndromic Hearing Loss 37
Autosomal Recessive Nonsyndromic Hearing Loss 58
X-linked Nonsyndromic Hearing Loss 75
Mitochondrial Nonsyndromic Hearing Loss 78
6. Genetic Hearing Loss Associated with External Ear Abnormalities 83
7. Genetic Hearing Loss Associated with Eye Disorders 126
8. Genetic Hearing Loss Asscoiated with Musculoskeletal Disorders 166
Craniotubular Bone Disorders 166
Chondrodysplasias 184
Other Chondrodysplasias 191
Craniosynostoses 192
Acral-Orofacial Syndromes 203
Other Skeletal Disorders 212
Miscellaneous Musculoskeletal Disorders 239
Rare Conditions with Hearing Loss 239
Common Syndromes with Occasional Hearing Loss 260
9. Genetic Hearing Loss Associated with Renal Disorders 267
10. Genetic Hearing Loss Associated with Neurologic and Neuromuscular Disorders 290
Neuromuscular Disorders with Hearing Loss 326
Anterior Horn Cell and Miscellaneous Neuromuscular Disorders 328
Motor and Sensory Neuropathies with Hearing Loss 330
Sensory and Autonomic Neuropathies with Hearing Loss 340
Muscular Dystrophies 343
Established Mitochondrial Syndromes with Hearing Loss 348
Disorders with Mitochondrial Involvement, but Autosomal Inheritance 356
11. Genetic Hearing Loss Associated with Cardiac Defects 359
12. Genetic Hearing Loss Associated with Endocrine Disorders 366
13. Genetic Hearing Loss Associated with Metabolic Disorders 387
Mucopolysaccaridoses 387
Oligosaccharidoses, Gangliosidoses, and Lipidoses 392
Gangliosidoses 397
Lipidoses 399
Peroxisomal Disorders 399
Fatty Acid Disorders 400
Organic Acid and Amino Acid Disorders 401
Other Disorders 403
14. Genetic Hearing Loss Associated with Integumentary Disorders 407
15. Genetic Hearing Loss Associated with Oral and Dental Disorders 456
16. Genetic Hearing Loss Associated with Chromosome Disorders 462
Cytogenic Disorders due to Aneuploidy 462
Cytogenetic Deletion Syndromes and Hearing Loss 469
Index 477
Read More Show Less

Customer Reviews

Be the first to write a review
( 0 )
Rating Distribution

5 Star


4 Star


3 Star


2 Star


1 Star


Your Rating:

Your Name: Create a Pen Name or

Barnes & Review Rules

Our reader reviews allow you to share your comments on titles you liked, or didn't, with others. By submitting an online review, you are representing to Barnes & that all information contained in your review is original and accurate in all respects, and that the submission of such content by you and the posting of such content by Barnes & does not and will not violate the rights of any third party. Please follow the rules below to help ensure that your review can be posted.

Reviews by Our Customers Under the Age of 13

We highly value and respect everyone's opinion concerning the titles we offer. However, we cannot allow persons under the age of 13 to have accounts at or to post customer reviews. Please see our Terms of Use for more details.

What to exclude from your review:

Please do not write about reviews, commentary, or information posted on the product page. If you see any errors in the information on the product page, please send us an email.

Reviews should not contain any of the following:

  • - HTML tags, profanity, obscenities, vulgarities, or comments that defame anyone
  • - Time-sensitive information such as tour dates, signings, lectures, etc.
  • - Single-word reviews. Other people will read your review to discover why you liked or didn't like the title. Be descriptive.
  • - Comments focusing on the author or that may ruin the ending for others
  • - Phone numbers, addresses, URLs
  • - Pricing and availability information or alternative ordering information
  • - Advertisements or commercial solicitation


  • - By submitting a review, you grant to Barnes & and its sublicensees the royalty-free, perpetual, irrevocable right and license to use the review in accordance with the Barnes & Terms of Use.
  • - Barnes & reserves the right not to post any review -- particularly those that do not follow the terms and conditions of these Rules. Barnes & also reserves the right to remove any review at any time without notice.
  • - See Terms of Use for other conditions and disclaimers.
Search for Products You'd Like to Recommend

Recommend other products that relate to your review. Just search for them below and share!

Create a Pen Name

Your Pen Name is your unique identity on It will appear on the reviews you write and other website activities. Your Pen Name cannot be edited, changed or deleted once submitted.

Your Pen Name can be any combination of alphanumeric characters (plus - and _), and must be at least two characters long.

Continue Anonymously

    If you find inappropriate content, please report it to Barnes & Noble
    Why is this product inappropriate?
    Comments (optional)