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.

Contents: Inherited diseases in otology (introduction to inherited sensorineural hearing impairment; genetic syndromes and cochlear implantation) * Inherited non-syndromic hearing impairment (dominant inheritance; recessive inheritance; X-linked inheritance; inherited syndromic hearing impairment; oxidative phosphorylation [OXPHOS] deficiencies) * Inherited diseases in rhinology * Miscellaneous (22Q11 deletions; angioneurotic edema [hereditary]; laryngeal paralysis [familial]; opitz syndrome; paraganglioma; primary ciliary dyskinesis; white sponge nevus)