1 |
Profound sensorineural on right, severe conductive on left; Congenital |
Internal auditory canal hypoplasia, hypoplastic vestibulocochlear nerve on right; External auditory canal atresia, malformed ossicles on left |
None reported |
Hispanic |
Heterozygous GJB2 V27I polymorphism, no mutations or other variants found |
2 |
Severe to profound on right, moderate to severe on left, mixed, progressive; Early childhood, sudden, with head trauma and ear infection |
Bilateral enlarged vestibular aqueducts; Disequilibrium; History of ear infections and possible meningitis |
None reported |
Caucasian |
No mutations or variants found |
3 |
Moderate to severe, bilateral, sloping audiogram, sensorineural, progressive; Childhood to young adulthood |
None |
Consistent with autosomal dominant inheritance |
Caucasian |
No mutations or variants found |
4 |
Moderate on right, mild to moderate on left, sensorineural, progressive; Childhood |
None |
Hearing impaired sibling (progressive, mild on right, mild to moderate on left, sensorineural; childhood onset; renal malformation); hearing impaired grandparent (unknown severity, possibly noise-induced) |
Uncertain: Caucasian/Mixed Caucasian |
No mutations or variants found |