Recessive Early-Onset Neural Deafness

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Abstract
In three generations of the S. family there were 16 members with severe deafness all of whom were examined. By history all members were born with at least some hearing, with progressive severe loss by later childhood. Sonographic and speech analysis gave further evidence of at least some hearing in early childhood. Audiologic tests on 3 members of the family suggested a cochlear location of the defect. Other tests done on 10 affected members including physical, neurological, and vestibular examinations showed no abnormalities. The deafness appears to be transmitted as an autosomal recessive. We suggest that this entity be called “Recessive early-onset neural deafness”.