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- W2042325217 abstract "ROBERT S. BART and Robert E. Pumphrey reported in the<i>New England Journal of Medicine</i>(<b>276</b>:202 [Jan 26] 1967) five members of a family showing hyperkeratotic thickened skin on almost all the interphalangeal joints of fingers and toes, whitening of all the nails, and severe sensorineural hearing loss, combined in three cases with a conductive loss. In one case a type 2 Békésy and high small increment sensitivity index scores indicated a cochlear rather than nerve trunk site of lesion. This patient had a sensorineural loss in both ears with a conductive loss only in the left ear. Surgical exploration of this left ear revealed malformation of the tympanic cavity with absence of the ossicles and of a tympanic facial canal. The family history is known with sufficient certainty to consider these multiple defects to be inherited autosomal-dominantly. The association of defects of the nails, skin, and cochlea indicates" @default.
- W2042325217 created "2016-06-24" @default.
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- W2042325217 date "1967-07-01" @default.
- W2042325217 modified "2023-09-27" @default.
- W2042325217 title "Another Syndrome of Familial Hereditary Deafness" @default.
- W2042325217 doi "https://doi.org/10.1001/archotol.1967.00760050003001" @default.
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