Abstract MOST of the recognized forms of hereditary deafness can be distinguished from one another by the associated phenotypic manifestations of the mutant gene in question. For example, autosomal dominant deafness may be seen in association with symphalangism, nephritis, pigmentary abnormalities, or ectodermal dysplasia; recessive deafness may occur with goiter, retinitis pigmentosa, polyneuritis, electrocardiographic abnormalities, or piebaldness; and sex-linked deafness may be seen in Hunter's syndrome, in Norrie's syndrome, or in association with pigmentary abnormalities.1 A form of hereditary deafness has recently been described, however, which appears to be characterized only by its autosomal dominant mode of inheritance and the unusual audiologic findings.2 Affected individuals show a sensorineural hearing loss at low frequencies with normal or near-normal hearing thresholds at higher frequencies. The purpose of this report is to describe and analyze the distinctive audiologic findings of this new genetic entity. Methods A medical history was obtained and a References 1. McKusick, V.A.: Mendelian Inheritance in Man , Baltimore: Johns Hopkins Press, 1966. 2. Nance, W.E., and Sweeney, A.J.: Dominantly Inherited Low-Frequency Hearing Loss , abstract, American Society of Human Genetics , (Dec 1) -3, 1967, Toronto, Canada, pp 17-18. 3. Ross, M., and Matkin, N.D.: The Rising Audiometric Curve , J Speech Hearing Dis 32:377-382 ( (Nov) ) 1967. 4. Lundborg, T.: Nerve Deafness for Low Tones , Acta Otolaryng 45:215-225 ( (May) -June) 1955.Crossref 5. Derlacki, E.L., and Clemis, J.D.: Congenital Cholesteatoma of the Middle Ear and Mastoid , Ann Otol 74:706-727 ( (Sept) ) 1965. 6. Iinuma, T., et al: Sensorineural Hearing Loss for Low Tones , Arch Otolaryng 86:110-116 ( (July) ) 1967.Crossref 7. Konigsmark, B.W.; Mengel, M.; and Berlis, C.I.: Dominant Low Frequency Hearing Loss , abstract, American Society of Human Genetics , (Dec 1) -3, 1967, Toronto, Canada, pp 77-78. 8. Gravendeel, D.W., and Plomp, R.: Perceptive Bass Deafness , Acta Otolaryng 52:548-560 ( (June) ) 1960.Crossref 9. Shambaugh, G.E., Jr.: Clinical Diagnosis of Cochlear (Labyrinthine) Otosclerosis , Laryngoscope 75:1558-1571 ( (Oct) ) 1965.Crossref 10. Carhart, R.: Atypical Audiometric Configurations Associated With Otosclerosis , Ann Otol 71:744-758 ( (Sept) ) 1962. 11. Tonndorf, J.: Animal Experiments in Bone Conduction, Clinical Conclusions , Ann Otol 73:659-678 ( (Sept) ) 1964. 12. Schuknecht, H.F., and Woellner, B.A.: Hearing Losses Following Partial Section of the Cochlear Nerve , Laryngoscope 63:441-465 ( (June) ) 1953. 13. Schuknecht, H.F., and Neff, W.D.: Hearing Loss After Apical Lesions in the Cochlea , Acta Otolaryng 42:263-274 ( (June) ) 1952.Crossref 14. Schuknecht, H.F.: Neural Mechanisms of the Auditory and Vestibular Systems , Rasmussen, G.L. and Windle, W.F. (eds): Springfield, Ill: Charles C Thomas, Publisher, 1960, pp 76-90. 15. Honrubia, V., and Ward, P.: The Longitudinal Distribution of the Cochlear Microphonic Potentials Inside the Cochlear Duct (Guinea Pig), J Neurophysiology, to be published. 16. Von Békésy, G.: Experiments in Hearing , New York: McGraw-Hill Book Co., Inc., 1960.
Archives of Otolaryngology – American Medical Association
Published: Sep 1, 1968
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