Medical Genetics in the Clinical Practice of Orl

Description

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.

Table of Contents

• Genetic Basis of Conditions Commonly Seen in ORL Practice
• Basic Medical Genetics for the Otolaryngologist
• Ordering Genetic Tests and Interpreting the Results
• Referring Patients for a Medical Genetics Consultation and Genetic Counseling
• Towards an Etiologic Diagnosis: Assessing the Patient with Hearing Loss
• Nonsyndromic Hereditary Hearing Loss
• Hereditary Hearing Loss with Thyroid Abnormalities
• Pigmentary Anomalies and Hearing Loss
• Usher Syndrome: Hearing Loss with Vision Loss
• Genetic Disorders with both Hearing Loss and Cardiovascular Abnormalities
• Hearing Loss Disorders Associated with Renal Disease
• Multiple Endocrine Neoplasia: Types 1 and 2
• Neurofibromatosis Type 2
• Hereditary Paragangliomas
• Genetic Causes of Nonsyndromic Cleft Lip with or without Cleft Palate
• Chronic Rhinosinusitis
• Otosclerosis
• Genetics of Vestibulopathies
• Genetics of Otitis Media
• Gene Therapy for Head and Neck Cancer

Further Section
Author Index
Subject Index