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Beskrivelse
Experts in otorhinolaryngology as well as medical genetics have contributed their reviews to this comprehensive compilation. Introductory chapters deal with basic genetics followed by chapters devoted to specific disorders. The gamut of otorhinolaryngological diseases from both adult and pediatric practice is covered. Included are common disorders such as hearing loss, cleft lip and palate, and thyroid cancers as well as further chapters on rare disorders such as Usher syndrome, neurofibromatosis type 2 and paraganglioma. Also, emerging fields of genetic investigation including otitis media, chronic rhinosinusitis and gene therapy are discussed. The contributions focus on diagnosis and management, as well as practical issues like how to order genetic testing or refer to a medical geneticist or genetic counselor. This publication will serve as an educational and reference text for both adult and pediatric otorhinolaryngologists, as well as medical geneticists and genetic counselors. It will provide readers with an understanding of the current state of genetic disorders seen in ORL practice, allow for accurate diagnosis, and improve patient management.