Genetics of Inner Ear Malformations: A Review
| Autor: | Renzo Manara, Roberta Cenedese, Flavia Sorrentino, Davide Brotto, Roberto Bovo, Irene Avato, Patrizia Trevisi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Hearing loss
Cochlear aplasia Review common cavity Incomplete partition cochlear hypoplasia medicine otorhinolaryngologic diseases Inner ear genetics hearing loss Genetics posterior labyrinth business.industry medicine.disease cochlear aplasia complete labyrinthine aplasia incomplete partition inner ear malformations medicine.anatomical_structure Otorhinolaryngology RF1-547 Feature (computer vision) Etiology Sensorineural hearing loss sense organs medicine.symptom business |
| Zdroj: | Audiology Research Audiology Research, Vol 11, Iss 47, Pp 524-536 (2021) |
| ISSN: | 2039-4349 2039-4330 |
| Popis: | Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the first descriptions date to the 18th century, in recent years the knowledge about these conditions has experienced terrific improvement. Currently, most of these conditions have a rehabilitative option. Much less is known about the etiology of these anomalies. In particular, the evolution of genetics has provided new data about the possible relationship between inner ear malformations and genetic anomalies. In addition, in syndromic condition, the well-known presence of sensorineural hearing loss can now be attributed to the presence of an inner ear anomaly. In some cases, the presence of these abnormalities should be considered as a characteristic feature of the syndrome. The present paper aims to summarize the available knowledge about the possible relationships between inner ear malformations and genetic mutations. |
| Databáze: | OpenAIRE |
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