Hereditary Hearing Loss and Its Syndromes

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Robert J. Gorlin, Helga V. Toriello, Meyer Michael Cohen
Oxford University Press, 1995 - Medical - 457 pages
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This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to hearing loss, this work covers 435. As before, the authors first discuss isolated hereditary hearing loss and then present hearing loss syndromes such as those involving the nervous system, eye, external ear and musculoskeletal system. The discussions are authoritative, practical and well-illustrated, and those of the most important syndromes are very detailed. Introductory chapters deal with the history of the field, clinical approach, embryology of the ear, tooth anomalies and hearing loss, and related endocrine and metabolic disorders. Throughout, the authors pay careful attention to nomenclature and classification. This will be an invaluable resource for all professionals concerned with genetic hearing loss, including medical geneticists, audiologists and otolaryngologists.
  

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Contents

Genetic Hearing LossA Brief History
3
Epidemiology Etiology and Genetic Patterns
9
Gene mapping
19
Morphogenesis of the internal ear
29
Dysmorphogenesis of the ear
39
Autosomal dominant progressive vestibulocochlear
49
Xlinked earlyonset sensorineural hearing loss
55
Familial ossicular malformations normal external ears
61
Brachydactyly broad first digits hyperopia and LemieuxNeemeh syndrome
241
Spondylocarpotarsal coalition syndrome with or retardation and sensorineural hearing loss
247
Mental and somatic retardation short clubbed digits Renal rickets retinitis pigmentosa and progressive
253
Duplication of the renal collecting system external ear syndrome
275
Anterior Horn Cell and Miscellaneous Neuromuscular
291
Established Mitochondria Syndromes with Hearing
306
Motor neuropathy vocal cord paralysis and amyotrophy progressive myoclonus epilepsy bone
312
Motor and sensory neuropathy optic atrophy
318

Postaxial acrofacial dysostosis cupped ears
68
TownesBrocks syndrome lop ears imperforate anus Robert J Gorlin
73
Branchiootorenal BOR syndrome branchiooto Usher syndrome
105
Acrocephaly limb anomalies short stature ear Retinitis pigmentosa nystagmus hemiplegic migraine
112
Branchiooculofacial BOF syndrome pseudocleft of Inverse retinitis pigmentosa hypogonadism
118
Aural atresia microtia skin mastocytosis short keratoglobus blue sclerae loose ligaments
124
Genetic Hearing Loss Associated with
141
Osteopetrosis
147
Oculodentoosseous dysplasia oculodentodigital
155
HajduCheney syndrome type VI
196
Cleidocranial dysplasia 209 Cleft lippalate mental and somatic retardation
210
Oculopharyngeal muscular dystrophy
217
Scapuloperoneal syndrome 217 9 Genetic Hearing Loss Associated with Renal
234
8Mannosidosis
324
Lipidoses
330
Lipodystrophic diabetes and conductive hearing loss
336
Thyroid hormone resistance stippled epiphyses
342
Amyloidosis IV Iowa type
350
Salivary gland insensitivity to aldosterone
354
del18p syndrome
360
Klinefelter syndrome
366
Autosomal recessive piebaldism and congenital hypohidrosis oligodontia and sensorineural hearing
397
Multiple lentigines LEOPARD syndrome 382 GoodmanMoghadam syndrome
404
Congenital ichthyosiform erythroderma hepatomegaly loss
410
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About the author (1995)


Robert J. Gorlin, D.D.S., M.S., D.Sc., is Regent's Professor of Oral Pathology and Genetics in the School of Dentistry, and Professor of Pathology, Pediatrics, Obstetrics and Gynecology, Otolaryngology and Dermatology in the School of Medicine, at the University of Minnesota. Helga V. Toriello, Ph.D., is the Director of Genetics Services at Butterworth Hospital, and Associate Professor in the Department of Pediatrics and Human Development at Michigan State University. M. Michael Cohen, Jr., D.M.D., Ph.D., is Professor of Oral Pathology, Pediatrics, Community Health and Epidemiology, Health Sciences Administration, Sociology and Social Anthropology at Dalhousie University.

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