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Hereditary Deafness in Man

1969; Massachusetts Medical Society; Volume: 281; Issue: 13 Linguagem: Inglês

10.1056/nejm196909252811306

1533-4406

Bruce W. Konigsmark,

Hearing, Cochlea, Tinnitus, Genetics

HEREDITARY hearing loss appears in many forms. It can be transmitted dominantly as Waardenburg's disease, recessively as Pendred's disease or sex-linked as the congenital sex-linked deafness of Parker. It may be either conductive, as in Treacher–Collins disease, or neural, as in recessive congenital deafness. The time of onset may be congenital, as in Waardenburg's disease, in the teens, as in Alport's disease, or in adult life, as otosclerosis. The frequencies affected can be determined genetically and may take the form of a dominant low-frequency hearing loss,1 a mid-frequency hearing loss2 or a high-frequency hearing loss.3 The simplest organization of types . . .