Search
aural atresia
Classification:
- type 1
- bony or fibrous atresia of the lateral part of the external auditory canal & an almost normal medial part & middle ear
- type 2
- most frequent type
- partial or total aplasia of the external auditory canal
- type 2A
- external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane
- type 2B
- bony stenosis of the total length of the external auditory canal
- type 3
- bony atresia of the external auditory canal & a very small or absent middle-ear cavity
Etiology:
- idiopathic
- genetic
Epidemiology: rare
Genetics:
- associated with defects in TSHZ1
Pathology:
- the external auditory canal & structures in the middle ear fail to develop completely
- varying degrees of severity
- in the extreme, no identifiable ear canal exists, & the middle ear & its structures may be absent
- may coexist with syndromes that feature 1st & 2nd branchial arch deformities
- Treacher-Collins syndrome
- hemifacial microsomia
- Goldenhar syndrome
Clinical manifestations:
- unilateral or bilateral atresia
- some degree of failure of the development of the external auditory canal
- if bilateral, severity of the deformity may vary between the ears
- malformation can also involve the tympanic membrane, ossicles & middle ear space
- inner ear development is most often normal
Special laboratory:
- hearing evaluation
- auditory-evoked brainstem responses (bilateral)
- assesses cochlear function
Management:
- hearing rehablitation
- atresiaplasty versus Baha system (no consensus)
General
atresia (atretic, atresic, imperforate)
genetic disease of the auditory system
Database Correlations
OMIM 607842
References
- Kessler BW
eMedicine (Medscape): Aural Atresia
http://emedicine.medscape.com/article/878218-overview
- OMIM :accession 607842