Genetics for ENT Specialists

Front Cover
Remedica, 2005 - Medical - 254 pages
The most prevalent ENT disorders are those that affect hearing. Approximately 1 in 1,000 children is born with a severe hearing impairment, and in at least half of these cases the cause is inherited. In recent years, considerable progress has been made in the field of molecular genetic studies on hereditary sensorineural hearing impairment, and it has recently become possible to make genetic diagnoses based on molecular tests in an increasing number of otologic disorders. This book provides practitioners with a concise overview of advances in this important field of medicine and will facilitate improved management of patients with ENT disorders.
 

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This book is excellent for the importance and management of genetics of hearing loss. Since there is a lack of awareness on the part of both health professionals and the public regarding the available genetic services and their value. Thus, the application of a standard protocol to the evaluation and diagnosis of all persons with hearing loss is of cardinal importance and recommended. The clinical evaluation of the patient with hearing loss is a multidisciplinary endeavor that includes participation by a clinical geneticist, otorhinolaryngologist, audiologist, pediatrician, speech therapist, educators, and some cases an occupational therapist and psychologists. Genetic testing should be the first test after medical history, physical examination and audiometry. It is of cardinal importance to make a genetic diagnosis that could preclude further invasive diagnostic testing. In addition, possible other medical conditions could be identified in time, and families could be informed and provide genetic counseling with prognostic prospects. Without a comprehensive genetic test for hearing loss, the future will remain dark to the fullest development of the person with hearing loss.  

Contents

Inherited diseases in otology Introduction
3
dominant inheritance DFNA1
14
Otosclerosis
39
recessive inheritance DFNB1
42
Xlinked inheritance
51
Alport syndrome
57
CHARGE association
63
Jervell and LangeNielsen syndrome
77
Waardenburg syndrome
118
Wolfram syndrome
125
Nonsyndromic maternally transmitted hearing impairment
134
Lebers hereditary optic atrophy
140
Inherited diseases in rhinology
145
Laryngeal paralysis familial
159
Primary ciliary dyskinesis
172
Index
231

Noonan syndrome type I
84
Osteogenesis imperfecta
90
Osteopetrosis
96
Enlarged vestibular aqueduct syndrome
103
Stickler syndrome
105
Usher syndrome
111

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