Hereditary Hearing Loss and Its Syndromes / Edition 2

Hereditary Hearing Loss and Its Syndromes / Edition 2

by Helga V. Toriello
     
 

ISBN-10: 019513849X

ISBN-13: 9780195138498

Pub. Date: 02/28/2004

Publisher: Oxford University Press, USA

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

Overview

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.

Product Details

ISBN-13:
9780195138498
Publisher:
Oxford University Press, USA
Publication date:
02/28/2004
Series:
Oxford Monographs on Medical Genetics Series, #50
Edition description:
REV
Pages:
528
Product dimensions:
11.30(w) x 8.70(h) x 1.20(d)

Table of Contents

Contributorsxix
1.Genetic Hearing Loss--A Brief History1
2.Syndrome Diagnosis and Investigation in the Hearing-impaired Patient3
3.Epidemiology, Etiology, Genetic Patterns, and Genetic Counseling8
4.Embryology of the Ear17
5.Genetic Hearing Loss with No Associated Abnormalities37
Autosomal Dominant Nonsyndromic Hearing Loss37
Autosomal Recessive Nonsyndromic Hearing Loss58
X-linked Nonsyndromic Hearing Loss75
Mitochondrial Nonsyndromic Hearing Loss78
6.Genetic Hearing Loss Associated with External Ear Abnormalities83
7.Genetic Hearing Loss Associated with Eye Disorders126
8.Genetic Hearing Loss Asscoiated with Musculoskeletal Disorders166
Craniotubular Bone Disorders166
Chondrodysplasias184
Other Chondrodysplasias191
Craniosynostoses192
Acral-Orofacial Syndromes203
Other Skeletal Disorders212
Miscellaneous Musculoskeletal Disorders239
Rare Conditions with Hearing Loss239
Common Syndromes with Occasional Hearing Loss260
9.Genetic Hearing Loss Associated with Renal Disorders267
10.Genetic Hearing Loss Associated with Neurologic and Neuromuscular Disorders290
Neuromuscular Disorders with Hearing Loss326
Anterior Horn Cell and Miscellaneous Neuromuscular Disorders328
Motor and Sensory Neuropathies with Hearing Loss330
Sensory and Autonomic Neuropathies with Hearing Loss340
Muscular Dystrophies343
Established Mitochondrial Syndromes with Hearing Loss348
Disorders with Mitochondrial Involvement, but Autosomal Inheritance356
11.Genetic Hearing Loss Associated with Cardiac Defects359
12.Genetic Hearing Loss Associated with Endocrine Disorders366
13.Genetic Hearing Loss Associated with Metabolic Disorders387
Mucopolysaccaridoses387
Oligosaccharidoses, Gangliosidoses, and Lipidoses392
Gangliosidoses397
Lipidoses399
Peroxisomal Disorders399
Fatty Acid Disorders400
Organic Acid and Amino Acid Disorders401
Other Disorders403
14.Genetic Hearing Loss Associated with Integumentary Disorders407
15.Genetic Hearing Loss Associated with Oral and Dental Disorders456
16.Genetic Hearing Loss Associated with Chromosome Disorders462
Cytogenic Disorders due to Aneuploidy462
Cytogenetic Deletion Syndromes and Hearing Loss469
Index477

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