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Results for Query ‹ DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA screening ›
Michel aplasia – Diagnosis
Diagnosis is based on clinical findings.
'Clinical findings'
- Profound congenital sensorineural deafness is present
- CT scan or MRI of the inner ear shows no recognizable structure in the inner ear.
- As michel's aplasia is associated with LAMM syndrome there will be Microtia and microdontia present(small sized teeth).
Molecular genetic Testing
1. "FGF3" is the only gene, whose mutation can cause congenital deafness with Michel's aplasia, microdontia and microtia
Carrier testing for at-risk relatives requires identification of mutations which are responsible for occurrence of disease in the family.
Michel aplasia – Prevention of secondary complications
Presence of inner ear abnormalities lead to Delayed gross development of child because of balance impairment and profound deafness which increases the risk of trauma and accidents.
- Incidence of accidents can be decreased by using visual or vibrotactile alarm systems in homes as well as in schools.
- Anticipatory education of parents, health providers and educational programs about hazards can help.