New England Journal of Medicine · 1969 · 61 citations · 25 references
MedicineGeneticsOphthalmologyHuman GeneticsMedical GeneticsOcular DiseaseCongenital Eye AnomaliesEye DiseaseGenetic DisordersHearing ImpairmentHearing LossVisual ImpairmentCongenital Ocular DiseaseDeafness IdentificationGenetic Eye DisordersHereditary CataractHereditary Eye DiseaseHereditary Ocular DiseaseInherited Ocular DiseaseInherited Ocular Disorders
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 . . .
25
Deafness as Part of an Hereditary Syndrome
L. Fisch · The Journal of Laryngology & Otology · 1959 · 185 citations · Full text
Knuckle Pads, Leukonychia and Deafness
Robert S. Bart, Robert E. Pumphrey · New England Journal of Medicine · 1967 · 112 citations
Medicine, Dermatology, Genetics +17
Terence Cawthorne · The Journal of Laryngology & Otology · 1955 · 111 citations
Partial Albinism and Deaf Mutism
L Ziprkowski · Archives of Dermatology · 1962 · 97 citations