Genetics for ENT Specialists
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.
Inherited diseases in otology Introduction
dominant inheritance DFNA1
recessive inheritance DFNB1
Jervell and LangeNielsen syndrome
Nonsyndromic maternally transmitted hearing impairment
Lebers hereditary optic atrophy
Inherited diseases in rhinology
Laryngeal paralysis familial
Primary ciliary dyskinesis