Skip to main content
SpringerLink
Log in

Status and Prospects of Research in Hereditary Deafness

  • Chapter
Advances in Human Genetics

Part of the book series: Advances in Human Genetics ((AHUG,volume 4))

Abstract

The interaction of literally hundreds—perhaps thousands—of genes is required for the development of a normal human ear. Consequently, defects in any one of a great many genes can lead to hearing loss. The recognition that hereditary deafness is not a single disease but a collection of distinct genetic disorders which have one symptom in common is one of the most important insights that have been gained from contemporary genetic research. Mutant genes have always been an important cause of hearing impairment, but with the progressive identification and control of environmental causes of hearing loss, hereditary factors will doubtless account for an even greater proportion of the deaf population in the future. Our intent here is to provide a common body of genetic knowledge for the array of professional groups—including geneticists, audiologists, otolaryngologists, pediatricians, social workers, and educators—who provide services for the hearing-impaired. We believe that, if further progress is to be made in the prevention, treatment, and education of the deaf, it will have to come about through a more widespread recognition of hereditary deafness syndromes and the special problems each presents.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Bibliography

  1. Aase, J. M., Oto-palato-digital syndrome, in: “First Conference on the Clinical Delineation of Birth Defects” (Daniel Berjsma, ed.), National Foundation, New York, 5:43–44 (1969).

    Google Scholar 

  2. Alport, A. C., Hereditary familial congenital hemorrhagic nephritis, Brit. Med. J. 1:504–506 (1927).

    CAS  PubMed Central  PubMed  Google Scholar 

  3. Altmann, F., Malformations of the auricle and the external auditory meatus, Arch. Otol. 54:115–139 (1951).

    CAS  Google Scholar 

  4. Anderson, H., Barr, B., and Wendenberg, E., Genetic disposition—A prerequisite for maternal rubella deafness, Arch. Otol. 91:141–174 (1970).

    CAS  Google Scholar 

  5. Appel, B. A., and Messina, S. J., Pili torti hereditary, New Engl. J. Med. 226:912–915 (1942).

    Google Scholar 

  6. Arenberg, I. K., Alport’s syndrome: a review, Michigan Univ. Med. School Med. Bull. 33:278–285 (1967).

    CAS  Google Scholar 

  7. Arias, S., Genetic heterogeneity in the Waardenburg syndrome, Birth Defects Or ig. Art. Ser. 7:87–101 (1971).

    CAS  Google Scholar 

  8. Arnott, E. J., Crawfurd, M. D’A., and Toghill, P. J., Anterior lenticonus and Alport’s syndrome, Brit. J. Ophthal. 50:390–403 (1966).

    CAS  PubMed Central  PubMed  Google Scholar 

  9. Arnvig, J., Vestibular function in deafness and severe hardness of hearing, Acta Otolaryngol. 45:283–288 (1955).

    CAS  PubMed  Google Scholar 

  10. Bach, G., Friedman, R., Weissmann, B., and Neufeld, E. F., The defect in the Hurler and Scheie syndromes: deficiency of α-L-iduronidase, Proc. Natl. Acad. Sci. 69:2048–2051 (1972).

    CAS  PubMed Central  PubMed  Google Scholar 

  11. Bart, R. S., and Pumphrey, R. E., Knuckle pads, leukonychia and deafness, New Engl. J. Med. 276:202–207 (1967).

    CAS  PubMed  Google Scholar 

  12. Bast, T. H., and Anson, B. J., “The Temporal Bone and the Ear,” Charles C Thomas, Springfield, Ill. (1949).

    Google Scholar 

  13. Baumann, E. J., Searle, N. Z., Yalow, A. A., Siegel, E., and Seidlin, S. M., Behavior of the thyroid toward elements of the seventh periodic group, Amer. J. Physiol. 185:71–76 (1956).

    CAS  PubMed  Google Scholar 

  14. Bell, A. G., Upon the formation of a deaf variety of the human race, Memoirs Natl. Acad. Sci. 2:177–262 (1883).

    Google Scholar 

  15. Bergsma, D. and Abramson, H., eds., Genetic counseling, Birth Defects Orig. Art. Ser. 6:1–106 (1970).

    Google Scholar 

  16. Bergsma, D. and Motulsky, A. G., eds., Symposium on intrauterine diagnosis, Birth Defects Orig. Art. Ser. 7:1–36 (1971).

    Google Scholar 

  17. Berson, E. L., Light deprivation for early retinitis pigmentosa—a hypothesis, Arch. Ophthal. 85:521–529 (1971).

    CAS  PubMed  Google Scholar 

  18. Bosher, S. K., and Hallpike, C. S., Observations on the histogenesis of the inner ear degeneration of the deaf white cat and its possible relationship to the etiology of certain unexplained varieties of human congenital deafness, J. Laryngol. 80:222–235 (1966).

    CAS  Google Scholar 

  19. Bossu, A., and Luypaert, R. B., The syndrome of Usher, Annal. Ocul. 199:529 (1958).

    Google Scholar 

  20. Brain, W. R., Heredity in simple goitre, Quart. J. Med. 20:303–319 (1927).

    Google Scholar 

  21. Brown, K. S., Bergsma, D. R., and Barrow, M. V., Animal models of pigment and hearing abnormalities in man, Birth Defects Orig. Art. Ser. 7:102–109 (1971).

    CAS  Google Scholar 

  22. Brown, K. S., The genetics of childhood deafness, in: “Deafness in Childhood” (F. McConnell and P. H. Ward, eds.), pp. 177–202, Vanderbilt University Press, Nashville (1967).

    Google Scholar 

  23. Brown, K. S., Genetic and environmental factors in profound prelingual deafness, Med. Clin. North Amer. 53:741–772 (1969).

    CAS  Google Scholar 

  24. Bruner, H. D., Perkinson, J. D., and Hayes, R. L., Deposition of Mn in the thyroid using Mn52–54, Fed. Proc. 12:305–306 (1953).

    Google Scholar 

  25. Burn, R. A., Deafness and the Lawrence-Moon-Biedl syndrome, Brit. J. Ophthal. 34:65–88 (1950).

    CAS  PubMed Central  PubMed  Google Scholar 

  26. Capute, A. J., Rimoin, D. L., Konigsmark, B. W., Esterly, N. B., and Richardson, F., Congenital deafness and multiple lentigines, Arch. Derm. 100:207–213 (1969).

    CAS  PubMed  Google Scholar 

  27. Carter, C. A., Fraser Roberts, J. A., and Evans, K. A., Genetic clinic: a follow-up, Lancet 1:281–285 (1971).

    CAS  PubMed  Google Scholar 

  28. Cassady, G., Brown, K., Cohen, M., and DeMaria, W., Hereditary renal dysfunction and deafness, Pediatrics 35:967–979 (1965).

    CAS  PubMed  Google Scholar 

  29. Cawthorne, T., Otosclerosis, J. Laryngol. Otol. 69:437–456 (1955).

    CAS  Google Scholar 

  30. Chung, C. S., and Brown, K. S., Family studies of early childhood deafness ascertained through the Clark School for the Deaf, Amer. J. Human Genet. 22:630–644 (1970).

    CAS  Google Scholar 

  31. Chung, C. S., Robison, O. W., and Morton, N. E., A note of deaf mutism, Ann. Human Genet. 23:357–366 (1969).

    Google Scholar 

  32. Cohen, M. M., Cassady, G., and Hanna, B. L., A genetic study of hereditary renal dysfunction with associated nerve deafness, Amer. J. Human Genet. 13:379–389 (1961).

    CAS  Google Scholar 

  33. Collen, M. F., Feldman, R., Siegelaub, A. B., and Crawford, D., Dollar cost per positive test for automated multiphasic screening, New Engl. J. Med. 283:459–463 (1970).

    CAS  PubMed  Google Scholar 

  34. Collins, T. E., Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones, Trans. Ophthal. Soc. U.K. 20:190–192 (1900).

    Google Scholar 

  35. Comings, D. E., and Ödland, G. F., Partial albinism, J. Amer. Med. Assoc. 195: 519–523 (1966).

    CAS  Google Scholar 

  36. Cotterman, C. W., Some statistical problems posed by Waardenburg’s data on dystopia canthorum and associated anomalies, Amer. J. Human Genet. 3:254–266 (1951).

    CAS  Google Scholar 

  37. Craig-Holmes, A. P., and Shaw, M. W., Polymorphism of human constitutive hetero-chromatin, Science 174:702–704 (1971).

    CAS  PubMed  Google Scholar 

  38. Crowe, S. J., Guild, S. R., and Polvogt, L. M., Observations on the pathology of high-tone deafness, Bull. Johns Hopkins Hosp. 54:315–380 (1934).

    Google Scholar 

  39. Cushing, H., Hereditary ankylosis of proximal phalangeal joints (symphalangism), Genetics 1:90–106 (1916).

    CAS  PubMed Central  PubMed  Google Scholar 

  40. Dahlberg, G., Eine statistische Untersuchung über die Vererbung der Taubstummheit, Z. ges. Anat. 2, Z. Konstitutionslehre 15:492 (1931).

    Google Scholar 

  41. Danks, D. M., Campbell, P. E., Walker-Smith, J., Stevens, B. J., Gillespie, J. M., and Blomfield, J., Menkes kinky-hair syndrome, Lancet 1:1100–1103 (1972).

    CAS  PubMed  Google Scholar 

  42. Davis, H., and Silverman, S. R., eds., “Hearing and Deafness,” 3rd ed., Holt, Rinehart and Winston, New York (1970).

    Google Scholar 

  43. DeHaas, E. B. H., van Lith, G. H. M., Rijnders, J., Rümke, A. M. L., and Volmer, C., Usher’s syndrome with special reference to heterozygous manifestations, Doc. Opthalmol. 24:166–190 (1970).

    Google Scholar 

  44. Deol, M. S., Inherited diseases of the inner ear in man in the light of studies on the mouse, J. Med. Genet. 5:137–158 (1968).

    CAS  PubMed Central  PubMed  Google Scholar 

  45. DiFerrante, N., Nichols, B. L., Donnelly, P. V., Neri, G., Hrgovcic, R., and Berglund, R. K., Induced degradation of glycosaminoglycans in Hurler’s and Hunter’s syndromes by plasma infusion, Proc. Natl. Acad. Sci. 68:303–307 (1971).

    CAS  Google Scholar 

  46. DiGeorge, A. M., Olmsted, R. W., and Harley, R. D., Waardenburg’s syndrome, J. Pediat. 57:649–669 (1960).

    CAS  PubMed  Google Scholar 

  47. Dolara, A., Tordini, B., Dellocchio, T., Cardio-auditory syndrome. Study of 262 cases of deaf-mutism, G. Ital. Cardiol. 1:214–219 (1971).

    CAS  PubMed  Google Scholar 

  48. Dolowitz, D. A., and Stephens, F. E., Hereditary nerve deafness, Trans. Amer. Otol. Soc. 46:290–300 (1961).

    Google Scholar 

  49. Dubach, U. C., Minder, F. C., and Antener, I., Familial nephropathy and deafness: first observation of a family and close relatives in Switzerland, Hebet. Med. Acta 33:36–43 (1966).

    CAS  Google Scholar 

  50. Dudding, B. A., Gorlin, R. J., and Langer, L. O., The oto-palato-digital syndrome, Amer. J. Dis. Child. 113:214–221 (1967).

    CAS  PubMed  Google Scholar 

  51. Edwards, C. H., and Paterson, J. H., A review of the symptoms and signs of acoustic neurofibromata, Brain 74:144–190 (1951).

    CAS  PubMed  Google Scholar 

  52. Elkington, S. G., and Huntsman, R. G., The Talbot fingers: a study in symphalangism, Brit. Med. J., 1:407–411 (1967).

    CAS  PubMed Central  PubMed  Google Scholar 

  53. Ellwood, L. C., Winter, S. T., and Dar, H., Familial microtia with meatal atresia in two sibships, J. Med. Genet. 5:289–291 (1968).

    CAS  PubMed Central  PubMed  Google Scholar 

  54. Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., and Ablin, A. R., Hereditary macrothrombocytopathia, nephritis and deafness, Amer. J. Med. 52:299–310 (1972).

    CAS  PubMed  Google Scholar 

  55. Erickson, L. S., Sorenson, G. D., and McGavran, M. H., A review of 140 acoustic neurinomas (neurilemmoma), Laryngoscope 75:601–627 (1965).

    CAS  PubMed  Google Scholar 

  56. Ersner, M. S., and Saltzman, M., Progressive analogous nerve deafness in three successive generations with sex limited inheritance, Laryngoscope 51:241–245 (1941).

    Google Scholar 

  57. Erway, L., Hurley, L. S., and Fraser, A., Neurologic defect: manganese in pheno-copy and prevention of a genetic abnormality of inner ear, Science 152:1766–1768 (1966).

    CAS  PubMed  Google Scholar 

  58. Erway, L., Hurley, L. S., and Fraser, A. S., Congenital ataxia and otolith defects due to manganese deficiency in mice, J. Nutr. 100:643–654 (1970).

    CAS  PubMed  Google Scholar 

  59. Erway, L., Fraser, A., and Hurley, L. S., Manganese in phenocopy and prevention of neurological mutant defect in the mouse, Genetics 54:333–334 (1966).

    Google Scholar 

  60. Escher, F., and Hirt, H., Dominant hereditary conductive deafness through lack of incus-stapes junction, Acta Otolaryngol. 65:25–32 (1968).

    CAS  PubMed  Google Scholar 

  61. Evans, H. J., Buckton, K. E., and Sumner, A. T., Cytological mapping of human chromosomes: results obtained with quinicrine fluorescence and acetic-saline-geimsa techniques, Chromosoma 35:310–325 (1971).

    CAS  PubMed  Google Scholar 

  62. Everberg, G., Further studies on hereditary unilateral deafness, Acta Otolaryngol. 51:615–635 (1960).

    CAS  PubMed  Google Scholar 

  63. Fara, M., Chlupackova, V., and Hrivnakova, J., Dismorphia oto-facio-cervicalis familiaris, Acta Chir. Plast. 9:255–268 (1967).

    Google Scholar 

  64. Farrior, J. B., and Endicott, J. N., Congenital mixed deafness: cerebrospinal fluid otorrhea. Ablation of the aqueduct of the cochlea, Laryngoscope 81:684–699 (1971).

    CAS  PubMed  Google Scholar 

  65. Fay, E. A., “Marriages of the Deaf in America,” Volta Bureau, Washington, D.C, pp. 1–527 (1898).

    Google Scholar 

  66. Fay, J. E., Olley, P. M., Partington, M. W., Kavety, V. B., and Ahmad, G., Surdocardiac syndrome—incidence among children in schools for the deaf, Canad. Med. Assoc. J. 105:718–720 (1971).

    CAS  PubMed Central  PubMed  Google Scholar 

  67. Feinmesser, M., and Zelig, S., Congenital deafness associated with onychodystrophy, Arch. Otol. 75:507–508 (1961).

    Google Scholar 

  68. Ferguson, A. C., and Rance, C. P., Hereditary nephropathy with nerve deafness (Alports syndrome), Amer. J. Dis. Child. 124:84–88 (1972).

    CAS  PubMed  Google Scholar 

  69. Fisch, L., Deafness as part of an hereditary syndrome, J. Laryngol. Otol. 73:355–382 (1959).

    CAS  Google Scholar 

  70. Forsius, H., and Eriksson, A. W., Different ophthalmoscopic aspects of tapetoretinal degeneration in an island population, Ophthalmologic 147:40–56 (1964).

    CAS  Google Scholar 

  71. Fourman, P., and Fourman, J., Hereditary deafness in family with earpits (fistula auris congenita), Brit. Med. J. 2:1354–1356 (1955).

    CAS  PubMed Central  PubMed  Google Scholar 

  72. Fowler, E. P., Otosclerosis in ten pairs of identical twins, Ann. Otol. Rhin. Laryngol. 67:889–904 (1958).

    CAS  Google Scholar 

  73. Francois, J., “Heredity in Ophthalmology.” p. 444, C. V. Mosby Company, St. Louis (1961).

    Google Scholar 

  74. Fraser, G. R., Deafness with goitre (syndrome of Pendred) and some related aspects of thyroid disease, Ph.D. Thesis, University of London (1960).

    Google Scholar 

  75. Fraser, G. R., The association of sporadic goitre with congenital deafness—syndrome of Pendred, in: “Proceedings of the Second International Congress of Genetics” (L. Gedda, ed.), Istituto G. Mendel, Rome 2:1899–1907 (1964).

    Google Scholar 

  76. Fraser, G. R., Profound childhood deafness, J. Med. Genet. 1:118–151 (1964).

    CAS  Google Scholar 

  77. Fraser, G. R., Association of congenital deafness with goitre, Ann. Human Genet. 28:201–249 (1965).

    CAS  Google Scholar 

  78. Fraser, G. R., Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness, Ann. Human Genet. 29:171–196 (1965).

    CAS  Google Scholar 

  79. Fraser, G. R., The causes of profound deafness in childhood, in “Ciba Foundation Symposium on -Sensorineural Hearing Loss” (G. E. W. Wolstenholme, ed.), pp. 5–40, J. & A. Churchill, London (1970).

    Google Scholar 

  80. Fraser, G. R., Genetic approaches to the nosology of deafness, Birth Defects Orig. Art. Ser. 7:52–63 (1971).

    CAS  Google Scholar 

  81. Fraser, G. R., personal communication.

    Google Scholar 

  82. Fraser, G. R., Froggatt, P., and James, T. N., Congenital deafness associated with electrocardiographic abnormalities, fainting attacks and sudden death, Quart. J. Med. 33:361–385 (1964).

    CAS  PubMed  Google Scholar 

  83. Fraser, G. R., Froggatt, P., and Murphy, T., Genetical aspects of the cardio-auditory syndrome of Jervell and Lange-Nielsen (congenital deafness and electrocardiographic abnormalities), Ann. Human Genet. 28:133–157 (1964).

    CAS  Google Scholar 

  84. Fried, K., Feinmesser, M., and Tsitsianov, J., Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism, J. Med. Genet. 6:132–134 (1969).

    CAS  Google Scholar 

  85. Friedmann, L, Fraser, G. R., and Froggatt, P., Pathology of the ear in the cardio-auditory syndrome of Jervell and Lange-Nielsen, J. Laryngol. Otol. 82:883–896 (1968).

    CAS  Google Scholar 

  86. Fujita, S., and Hayden, R. C., Alport’s syndrome. Temporal bone report, Arch. Otol. 90:453–466 (1969).

    CAS  Google Scholar 

  87. Gale, G. E., Bosman, C. K., Tucker, R. B. K., and Barlow, J. B., Hereditary prolongation of QT interval, Brit. Heart J. 32:505–509 (1970).

    CAS  PubMed Central  PubMed  Google Scholar 

  88. Gall, J. C., Stern, A. M., Pozanski, A. K., Gara, S. M., Weinstein, E. D., and Hayward, J. R., Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females, Amer. J. Human Genet. 24:24–36 (1972).

    Google Scholar 

  89. Giblett, E. R., “Genetic Markers in Human Blood,” pp. 1–629, Blackwell, Oxford (1969).

    Google Scholar 

  90. Glasscock, M. E., The stapes gusher, Arch. Otolaryngol. (in press).

    Google Scholar 

  91. Glorig, A., and Davis, H., Age, noise and hearing loss, Trans. Amer. Otol. Soc. 49:262–280 (1961).

    CAS  PubMed  Google Scholar 

  92. Goodman, R. M., Lockareff, S., and Gwinup, G., Hereditary congenital deafness with onychodystrophy, Arch. Otol. 90:474–477 (1969).

    CAS  Google Scholar 

  93. Gorlin, R. J., Anderson, R. C., and Blaw, M., Multiple lentigenes syndrome, Amer. J. Dis. Child. 117:652–662 (1969).

    CAS  PubMed  Google Scholar 

  94. Gorlin, R. J., Anderson, R. C., and Moller, J. H., The Leopard (multiple lentigines) syndrome revisited, Birth Defects Orig. Art. Ser. 7:110–115 (1971).

    CAS  Google Scholar 

  95. Gorlin, R. J., Kietzer, G., and Wolfson, J., Stapes fixation and proximal symphalangism, Z. Kinderheilk. 108:12–16 (1970).

    CAS  PubMed  Google Scholar 

  96. Gorlin, R. J., and Pindborg, J. J., Syndromes of the head and neck, pp. 346–353, 419–426, MacGraw-Hili, New York (1964).

    Google Scholar 

  97. Gorlin, R. J., Spranger, J., and Koszalka, M. F., Genetic craniotubular bone dysplasias and hyperostoses: a critical analysis. Birth Defects Orig. Art. Ser. 5:79–95 (1969).

    Google Scholar 

  98. Graham, J. B., Hereditary chronic kidney disease: an alternative to partial sex-linkage in the Utah kindred, Amer. J. Human Genet. 11:333–338 (1959).

    CAS  Google Scholar 

  99. Gregg, J. B., and Becker, S. F., Concomitant progressive deafness, chronic nephritis, and ocular lens disease, AMA Arch. Ophthal 69:293–299 (1963).

    CAS  PubMed  Google Scholar 

  100. Gregg, N. M., Congenital cataract following German measles in the mother, Trans. Ophthal. Soc. Austral. 3:35–38 (1941).

    Google Scholar 

  101. Hallgren, B., Retinitis pigmentosa combined with congenital deafness with vestibulocerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study, Acta Psych. Scand. Suppl. 138, 34:1–101 (1959).

    CAS  Google Scholar 

  102. Harle, T. S., and Stevenson, J. R., Hereditary symphalangism associated with carpal and tarsal fusions, Radiology 89:91–94 (1967).

    CAS  PubMed  Google Scholar 

  103. Hawkins, J. E., Iatrogenic toxic deafness in children, in: “Deafness in childhood” (F. McConnell and P. H. Ward, eds.), pp. 156–173, Vanderbilt University Press, Nashville (1967).

    Google Scholar 

  104. Hawkins, J. E., Jr., and Johnsson, L. G., Light microscopic observations of the inner ear in man and monkey, Ann. Otol. Rhin. Laryngol. 77:608–628 (1968).

    Google Scholar 

  105. Hellier, F. F., Astbury, W. T., and Bell, F. O., A case of pili torti, Brit. J. Dermat. Syph., 52:173–182 (1940).

    Google Scholar 

  106. Herndon, J. W., Steinberg, D., and Uhlendorf, B., Refsum’s disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes, New Engl. J. Med. 281:1034–1038 (1969).

    CAS  PubMed  Google Scholar 

  107. Holmes, E. M., The microtic ear, Arch. Oto-Laryngol. 49:243–265 (1949).

    CAS  Google Scholar 

  108. Hornstein, O. P., and Weidner, F., Systematisierte Lentiginosis mit kongenitaler Taubheit und diskretem Status dysrhaphicus, Dermatologica 143:79–83 (1971).

    CAS  PubMed  Google Scholar 

  109. Hough, J. V. D., Congenital malformations of the middle ear, Proc. Roy. Soc. Med. 57:1145–1146 (1964).

    CAS  PubMed Central  PubMed  Google Scholar 

  110. Huizing, E. H., van Bolhuis, A. H., and Odenthal, D. W., Studies on progressive hereditary perceptive deafness in a family of 335 members, Acta Otolaryngol. 61: 161–167 (1966).

    CAS  PubMed  Google Scholar 

  111. Hvidberg-Hansen, J., and Jorgensen, M. B., The inner ear in Pendred’s syndrome, Acta Otolaryngol. 66:129–135 (1968).

    CAS  PubMed  Google Scholar 

  112. Iinuma, T., Shitara, T., Hoshino, T., and Kirikae, I., Sensorineural hearing loss for low tones, Arch. Otolaryngol. 86:110–116 (1967).

    CAS  PubMed  Google Scholar 

  113. Jacobson, J. H., and Stevens, G., Hereditary choriodoretinal degeneration; study of a family including electroretinography and adaptometry, Arch. Ophthal. 67: 321–335 (1962).

    CAS  PubMed  Google Scholar 

  114. Jager, Von M. and Refior, H. J., Ein Knochendysplasie-Syndrom, Z. Orthop. 105: 196–208 (1968).

    Google Scholar 

  115. James, T. N., Congenital deafness and cardiac arrhythmias, Amer. J. Cardiol. 19: 627–643 (1967).

    CAS  PubMed  Google Scholar 

  116. Jensen, J., Tomography of the inner ear in a case of Waardenburg’s syndrome, Amer. J. Roent. 101:828–833 (1967).

    CAS  Google Scholar 

  117. Jerger, J., Audiological manifestations of lesions in the auditory nervous system, Laryngoscope 70:417–425 (1960).

    CAS  PubMed  Google Scholar 

  118. Jerger, J., Shedd, J. L., and Harford, E., On the detection of extremely small changes in sound intensity, Arch. Otolaryngol. 69:200–211 (1959).

    CAS  Google Scholar 

  119. Jervell, A., and Lange-Nielsen, F., Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death, Amer. Heart J. 54:59–68 (1957).

    CAS  PubMed  Google Scholar 

  120. Jervell, A., and Silvertssen, E., Surdo-cardiac syndrome, Nord. Med. 78:1443–1450 (1967).

    CAS  PubMed  Google Scholar 

  121. Jervell, A., Thingstad, R., and Endsjo, T.-O., The surdo-cardiac syndrome (three new cases of congenital deafness with syncopal attacks and Q-T prolongation in the electrocardiogram), Amer. Heart J. 72:582–593 (1966).

    CAS  PubMed  Google Scholar 

  122. Johnsen, S., Familial deafness and goitre in persons with a low serum level of protein-bound iodine, Acta Otolaryngol. (Suppl.) 140:168–177 (1958).

    CAS  Google Scholar 

  123. Kapur, Y. P., and Patt, A. J., Otosclerosis in South India, Acta Otolaryngol. 61: 353–360 (1966).

    CAS  PubMed  Google Scholar 

  124. Kelemen, G., Hurler’s syndrome and the hearing organ, J. Laryngol. Otol. 80:791–803 (1966).

    CAS  PubMed  Google Scholar 

  125. Kloepfer, H. W., Laguaite, J. K., and McLanrin, J. W., The hereditary syndrome of deafness in retinitis pigmentosa, Laryngoscope, 76:850–862 (1966).

    CAS  PubMed  Google Scholar 

  126. Knudson, A. G., Mutation and cancer: statistical study of retinoblastoma, Proc. Natl. Acad. Sci. 68:820–823 (1971).

    PubMed Central  PubMed  Google Scholar 

  127. Kolodny, E. H., Hass, W. K., Lane, B., and Drucker, W. D., Refsum’s syndrome, Arch. Neurol. 12:583–596 (1965).

    CAS  PubMed  Google Scholar 

  128. Konigsmark, B. W., Hereditary deafness in man, 281:713–720, 774–778, 827–832 (1969).

    Google Scholar 

  129. Konigsmark, B. W., Hereditary deafness with external ear abnormalities: a review, Johns Hopkins Med. J. 127:228–244 (1970).

    CAS  PubMed  Google Scholar 

  130. Konigsmark, B. W., Hereditary congenital severe deafness syndromes, Ann. Otol. Rhin. Laryngol. 80:269–288 (1971).

    CAS  Google Scholar 

  131. Konigsmark, B. W., Syndromal approaches to the nosology of hereditary deafness, Birth Defects Orig. Art. Ser. 7:2–17 (1971).

    CAS  Google Scholar 

  132. Konigsmark, B. W., Renal tubular acidosis with progressive nerve deafness, personal communication, 1966, cited by McKusick, V. A., “Mendelian Inheritance in Man,” 2nd ed., p. 357, Johns Hopkins Press, Baltimore (1968).

    Google Scholar 

  133. Konigsmark, B. W., Mengel, M. C., and Berlin, C. I., Familial low frequency hearing loss, Laryngoscope 81:759–771 (1971).

    CAS  PubMed  Google Scholar 

  134. Konigsmark, B. W., Mengel, M. C., and Haskins, M., Familial congenital moderate neural hearing loss, J. Laryngol. 84:495–505 (1970).

    CAS  Google Scholar 

  135. Konigsmark, B. W., Salman, S., Haskins, H., and Mengel, M., Dominant mid-frequency hearing loss, Ann. Otol. Rhin. Laryngol. 79:42–53 (1970).

    CAS  Google Scholar 

  136. Krickstein, H. I., Gloor, F. J., and Balogh, K., Renal pathology in hereditary nephritis with nerve deafness, AMA Arch. Pathol. 82:506–517 (1966).

    CAS  Google Scholar 

  137. Krill, A. E., and Iser, G., The value of electroretinography, Amer. J. Ophthal. 47: 649–656 (1959).

    CAS  PubMed  Google Scholar 

  138. Lamy, M., Frezal, J., Fessard, C., and Roy, C., Deux cas de syndrome de Jervell et Länge-Nielsen dans une même fratrie, Arch. Franc. Pediat. 23:96 (1966).

    Google Scholar 

  139. Lamy, M., Frezal, J., Fessard, C., and Roy, C., Le syndrome de Jervell et Lange-Nielsen, Arch. Franc. Pediat. 24:415–424 (1967).

    CAS  PubMed  Google Scholar 

  140. Larsson, A., Otosclerosis, Acta Otolaryngol. Suppl. 154:1–86 (1960).

    CAS  PubMed  Google Scholar 

  141. Lassonde, M., Trudeau, J. G., and Girard, C., Generalized lentigines associated with multiple congenital defects (Leopard syndrome), Canad. Med. Assoc. J. 103: 293–294 (1970).

    CAS  PubMed Central  PubMed  Google Scholar 

  142. Lenzi, P., Sulle sordità ereditarie, Arch. Ital. Otol. Rhin. Laryngol. 80:453–485 (1969).

    CAS  Google Scholar 

  143. Leonard, C. W., Chase, G. A., and Childs, B., Genetic counseling: A consumer’s view, New Engl. J. Med. 287:433–439 (1972).

    CAS  PubMed  Google Scholar 

  144. Levine, S. A., and Woodworth, C. R., Congenital deaf-mutism, prolonged QT interval, syncopal attacks and sudden death, New Engl. J. Med. 259:412–417 (1958).

    CAS  PubMed  Google Scholar 

  145. Lisker, S. A., and Finkelstein, D., The cardio-auditory syndrome of Jervell and Lange-Nielsen: report of an additional case with radioelectrocardiographic monitoring during exercise, Amer. J. Med. Sci. 252:458–464 (1966).

    CAS  PubMed  Google Scholar 

  146. Livan, M., Contributo alla conoscenza delle sordità ereditarie, Arch. Ital. Otol. Rhin. Laryngol. 72:331–339 (1961).

    Google Scholar 

  147. Lumio, J. S., Piirainen, H., and Paljakka, P., Marriages between the deaf and hereditary deafness in Finland, Acta Otolaryngol. 62:265–276 (1966).

    CAS  PubMed  Google Scholar 

  148. Lundborg, H., Hereditary transmission for genotypical deaf mutism, Hereditas 1:35–40 (1920).

    Google Scholar 

  149. Lynch, H. T., and Bergsma, D., eds., “International Directory of Genetic Services,” The National Foundation, pp. 1–50 (1971).

    Google Scholar 

  150. Lyon, M. F., Hereditary absence of otoliths in the house mouse, J. Physiol. 114: 410–418 (1951).

    CAS  PubMed Central  PubMed  Google Scholar 

  151. Lyon, M. F., Sex chromatin and gene action in the mammalian X-chromosome, Amer. J. Human Genet. 14:135–148 (1962).

    CAS  Google Scholar 

  152. Macklin, M. T., Studies on the inheritance of deafness in the pupils of the Clarke School for the Deaf. (b) Genetic analysis of data and pedigrees, Trans. Amer. Otol. Soc. 34:177–191 (1946).

    Google Scholar 

  153. Manson, M. M., Logan, W. P. D., and Loy, R. M., Rubella and other virus infections during pregnancy, Quart. Rev. Pediat. 16:57–59 (1961).

    Google Scholar 

  154. Maran, A. G. D., The causes of deafness in childhood, J. Laryngol. 80:495–505 (1966).

    CAS  Google Scholar 

  155. Marcus, R. E., Vestibular function and additional findings in Waardenburg’s syndrome, Acta Otolaryngol. Suppl. 229:5–30 (1968).

    Google Scholar 

  156. Marden, P. M., Smith, D. W., and McDonald, M. J., Congenital anomalies in the newborn infant including minor variations, J. Pediat. 64:357–371 (1964).

    CAS  PubMed  Google Scholar 

  157. Margolis, E., A new hereditary syndrome—sex-linked deafmutism associated with total albinism, Acta Genet. 12:12–19 (1962).

    CAS  PubMed  Google Scholar 

  158. Margolis, E., Sex-linked albinism associated with deafness, Alabama J. Med. Sci. 3:479–482 (1966).

    CAS  Google Scholar 

  159. Martensson, B., Dominant hereditary nerve deafness, Acta Otolaryngol. 52:270–274 (1960).

    CAS  PubMed  Google Scholar 

  160. Matthews, N. L., Lentigo and electrocardiographic changes, New Engl. J. Med. 278:780–781 (1968).

    CAS  PubMed  Google Scholar 

  161. Mawson, S. R., Personal communication cited in Edwards, W. G., Congenital middle ear deafness with anomalies of the face, J. Laryngol. 78:152–170 (1964).

    Google Scholar 

  162. McDonald, A. D., Deafness in children of very low birth weight, Arch. Dis. Child. 39:272–277 (1964).

    CAS  PubMed Central  PubMed  Google Scholar 

  163. McGovern, F. H., The association of nerve deafness and retinitis pigmentosa; interval report, Ann. Oto. Rhin. Laryngol. 69:1044–1053 (1960).

    CAS  Google Scholar 

  164. McKusick, V. A., Howell, R. R., Hussels, I. E., Neufeld, E. F., and Stevenson, R. E., Allelism, non-allelism and genetic compounds among the mucopolysaccharidoses, Lancet 1:993–996 (1972).

    CAS  PubMed  Google Scholar 

  165. McKusick, V. A., Kaplan, D., Wise, D., Hanley, W., Suddarth, S. B., Sevick, S. B., and Maumanee, A. E., The genetic mucopolysaccharidoses, Medicine 44:445–483 (1965).

    CAS  PubMed  Google Scholar 

  166. McLaurin, J. W., Kloepfer, H. W., Laguaite, J. K., and Stallcup, T. A., Hereditary branchial anomalies and associated hearing impairment, Laryngoscope 76:1277–1288 (1966).

    Google Scholar 

  167. McLeod, A. C., McConnell, F. E., Sweeney, A., Cooper, M. C., and Nance, W. E., Clinical variation in Usher’s syndrome, Arch. Otolaryngol. 94:321–334 (1971).

    CAS  PubMed  Google Scholar 

  168. McLeod, A. C., Sweeney, A., McConnell, F. E., Kemker, J., Nance, W. E., and Webb, W. W., Autosomal recessive sensorineural deafness: a comparison of two kindreds, South. Med. J. 66:141–152 (1973).

    CAS  PubMed  Google Scholar 

  169. McRae, K. N., Uchida, I. A., and Lewis, M., Sex-linked congenital deafness, Amer. J. Human Genet. 21:415–422 (1969).

    CAS  Google Scholar 

  170. Meissner, F. L., “Taubstummheit und Taubstummenbildung,” pp. 119–120, Winter, Leipzig and Heidelberg (1856).

    Google Scholar 

  171. Mengel, M. C., Konigsmark, B. W., Berlin, C. L, and McKusick, V. A., Recessive early onset neural deafness, Acta Otolaryngol. 64:313–326 (1967).

    CAS  PubMed  Google Scholar 

  172. Mengel, M. C., Konigsmark, B. W., Berlin, C. L, and McKusick, V. A., Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome, J. Med. Genet. 6:14–21 (1969).

    CAS  PubMed Central  PubMed  Google Scholar 

  173. Mengel, M. C., Konigsmark, B. W., and McKusick, V. A., Two types of congenital recessive deafness, Eye, Ear, Nose and Throat Monthly 48:301–305 (1969).

    CAS  PubMed  Google Scholar 

  174. Menkes, J. H., Alter, M., Steigleder, G. K., Weakley, D. R., and Sung, J. H., A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration, Pediatrics 29:764–779 (1962).

    CAS  PubMed  Google Scholar 

  175. Mikaelian, D. W., Kaloustian, V. M., Shahin, N. A., and Barsoumian, V. M., Congenital ectodermal dysplasia with hearing loss, Arch. Otolaryngol. 92:85–89 (1970).

    CAS  PubMed  Google Scholar 

  176. Mohr, J., and Mageroy, K., Sex-linked deafness of a possibly new type, Acta Genet. 10:54–62 (1960).

    CAS  PubMed  Google Scholar 

  177. Morgans, M. E., and Trotter, W. R., Association of congenital deafness with goiter. The nature of the thyroid defect, Lancet 1:607–609 (1958).

    CAS  PubMed  Google Scholar 

  178. Morquio, L., Sur une maladie infantile et familiale characterisée par des modifications permanentes du pouls, des attaques epileptiformes et la mort subite, Arch. Med. Enf. 4:467–475 (1901).

    Google Scholar 

  179. Morrison, A. W., Genetic factors in otosclerosis, Ann. Roy. Col. Surg. Engl. 41: 202–237 (1967).

    CAS  Google Scholar 

  180. Myers, D., Schlosser, W. D., and Winchester, R. A., Otologic diagnosis and the treatment of deafness, CIBA Clin. Symp. 14:39–73 (1962).

    CAS  Google Scholar 

  181. Myers, E. N., Stool, S. E., and Koblenzer, P. J., Congenital deafness, spiny hyperkeratosis and universal alopecia, Arch. Otolaryngol. 93:68–74 (1971).

    CAS  PubMed  Google Scholar 

  182. Nance, W. E., Genetic studies of human serum and erythrocyte polymorphisms: glucose-6-phosphate dehydrogenase, haptoglobin, hemoglobin, transferrin, lactic dehydrogenase and catalase, Ph.D. Thesis, University of Wisconsin, pp. 71–88 (1968).

    Google Scholar 

  183. Nance, W. E., Genetic counseling for the hearing impaired, Audiology 10:222–233 (1971).

    CAS  PubMed  Google Scholar 

  184. Nance, W. E., Hara, S., Hansen, A., Elliot, J., Lewis, M., and Chown, B., Genetic linkage studies in a Negro kindred with Nome’s disease, Amer. J. Human Genet. 21:423–429 (1969).

    CAS  Google Scholar 

  185. Nance, W. E., Setleff, R., McLeod, A., Sweeney, A., Cooper, C., and McConnell, F., X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher, Birth Defects Orig. Art. Ser. 7:64–69 (1971).

    CAS  Google Scholar 

  186. Nance, W. E., and Sweeney, A., Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness, Birth Defects Orig. Art. Ser. 7:70–72 (1971).

    CAS  Google Scholar 

  187. Nance, W. E., Sweeney, A., McLeod, A. C., and Cooper, M. C., Hereditary deafness: a presentation of some recognized types, modes of inheritance and aids in counseling, South. Med. Bull. 58:41–49 (1970).

    Google Scholar 

  188. Newcombe, H. B., Population genetics: population records, in: “Methodology in Human Genetics” (W. J. Burdette, ed.), pp. 92–113, Holden-Day, San Francisco (1962).

    Google Scholar 

  189. Norrie, G., Causes of blindness in children, Acta Ophthal. 5:375–386 (1927).

    Google Scholar 

  190. Ohlsson, L., Congenital renal disease, deafness and myopia in one family, Acta Med. Scand. 174:77–84 (1963).

    CAS  PubMed  Google Scholar 

  191. Olson, N. R., and Lehman, R. H., Cerebrospinal fluid otorrhea and the congenitally fixed stapes, Laryngoscope 78:352–360 (1968).

    CAS  PubMed  Google Scholar 

  192. Opheim, O., Loss of hearing following the syndrome of van der Hoeve-de Kleyn, Acta Otolaryngol. 65:337–344 (1968).

    CAS  PubMed  Google Scholar 

  193. Opitz, J., Birth Defects Orig. Art. Ser. (in press).

    Google Scholar 

  194. Paparella, M. M., Sugiura, S., and Hoshino, T., Familial progressive sensorineural deafness, Arch. Otolaryngol. 90:44–51 (1969).

    CAS  PubMed  Google Scholar 

  195. Parker, N., Congenital deafness due to a sex-linked recessive gene, Amer. J. Human Genet. 10:196–200(1958).

    CAS  Google Scholar 

  196. Parnicky, J. J., Characteristics of deaf-blind adults at the Industrial Home for the Blind, in: “Survey of Selected Characteristics of Deaf-Blind Adults in New York State,” 7:13–78 (1957).

    Google Scholar 

  197. Partington, M. W., Waardenburg’s syndrome and heterochromia iridum in a deaf school population, Canad. Med. Assoc. J. 90:1008–1017 (1964).

    CAS  PubMed Central  PubMed  Google Scholar 

  198. Pendred, V., Deaf-mutism and goitre, Lancet 2:532 (1896).

    Google Scholar 

  199. Perez De Moura, L. F., Hayden, R. C., Jr., and Conner, G. H., Further observations on acoustic neurinoma, Trans. Amer. Acad. Ophthal. Otolaryngol. 73:60–70 (1969).

    CAS  Google Scholar 

  200. Perkoff, G. T., Nugent, C. A., Jr., Dolowitz, D. A., Stephens, F. E., Carnes, W. H., and Tyler, F. H., A follow-up study of hereditary chronic nephritis, Arch. Int. Med. 102:733–746 (1958).

    CAS  Google Scholar 

  201. Perlman, H. B., Sensorineural deafness, Arch. Otolaryngol. 77:226–229 (1963).

    CAS  PubMed  Google Scholar 

  202. Perutz, M. F., and Lehmann, H., Molecular pathology of human hemoglobin, Nature 219:902–909 (1968).

    CAS  PubMed  Google Scholar 

  203. Pickering, D., Laski, B., Macmillan, D. C., and Rose, V., “Little Leopard” syndrome. Description of 3 cases and review of 24, Arch. Dis. Child. 46:85–90 (1971).

    CAS  PubMed Central  PubMed  Google Scholar 

  204. Podvinec, S., Deafness caused by streptomycin, a familial disposition, J. Franc. Otorhin. 15:61–67 (1966).

    Google Scholar 

  205. Pollitt, R. J., Jenner, F. A., and Davies, M., Sibs and mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair, Arch. Dis. Child. 43:211–216 (1968).

    CAS  PubMed Central  PubMed  Google Scholar 

  206. Precechtel, A., Pedigree of anomalies in the first and second branchial cleft, inherited according to the laws of Mendel and a contribution to the technique of the extirpation of congenital lateral fistulae colli, Acta Otolaryngol. 11:23–30 (1927).

    Google Scholar 

  207. Preus, M., and Fraser, F. C., Genetics of hereditary nephropathy with deafness (Alport’s syndrome), Clin. Genet. 2:331–337 (1971).

    CAS  PubMed  Google Scholar 

  208. Puletti, M., Jacobellis, G. F., and Borghi, F., La sindrome di Jervell e Lange-Nielsen, studio cardiologico di 211 sordomuti, Cuore Circ. 51:251–261 (1967).

    CAS  PubMed  Google Scholar 

  209. Pyle, E., A case of unusual bone development, J. Bone Joint Surg. 13:874–876 (1931).

    Google Scholar 

  210. Quelprud, T., Ear pit and its inheritance, J. Hered. 31:379–384 (1940).

    Google Scholar 

  211. Randall, R. E., Familial renal tubular acidosis revisited, Ann. Int. Med. 66:1024–1025 (1967).

    PubMed  Google Scholar 

  212. Reed, W. B., Stone, V. M., Boder, E., and Ziprkowski, L., Pigmentary disorders in association with congenital deafness, Arch. Derm. 95:176–186 (1967).

    CAS  PubMed  Google Scholar 

  213. Reed, W. B., Stone, V. M., Boder, E., and Ziprkowski, L., Hereditary syndromes with auditory and dermatological manifestations, Arch. Derm. 95:456–461 (1967).

    CAS  PubMed  Google Scholar 

  214. Refetoff, S., DeWind, L. T., and DeGrott, L. J., Familial syndrome combining deaf-mutism, stippled epiphyses, goiter, and abnormally high PBI: possible target organ refractoriness to thyroid hormone, J. Clin. Endocrinol. 27:279–294 (1967).

    CAS  Google Scholar 

  215. Refsum, F., Heredopathia attactica polyneuritaformis, J. Nerv. Ment. Dis. 116: 1046–1050 (1952).

    CAS  PubMed  Google Scholar 

  216. Refsum, S., Heredoataxia hemeralopica polyneuritiformis—et tidligere ikke besk-revet Familiaert syndrom?, Nord. Med. 28:2682–2684 (1945).

    Google Scholar 

  217. Revilla, A. G., Neurinomas of the cerebellopontile recess: a clinical study of one hundred and sixty cases including operative mortality and end results, Bull. Johns Hopkins Hosp. 80:254–296 (1947).

    Google Scholar 

  218. Rice, W. J., and Waggoner, L. G., Congenital cerebrospinal fluid otorrhea via a defect in the stapes footplate, Laryngoscope 77:341–349 (1967).

    CAS  PubMed  Google Scholar 

  219. Richards, B. W., Sex-linked deaf-mutism, Ann. Human Genet. 26:195–199 (1963).

    CAS  Google Scholar 

  220. Richterich, R., Mechelen, P., and Rossi, E., Refsum’s disease (heredopathia atactica polyneuritiformis): an inborn error of lipid metabolism with storage of 3,7,11,15-tetramethylhexadecanoic acid, Amer. J. Med. 39:230–236 (1965).

    CAS  PubMed  Google Scholar 

  221. Rimoin, D. L., Woodruff, S. L., and Holman, B. L., Craniometaphyseal dysplasia (Pyle’s disease): autosomal dominant inheritance in a large kindred, Birth Defects Orig. Art. Ser. 5:96–104 (1969).

    Google Scholar 

  222. Robinson, G. C., and Johnson, M. N., Pili torti and a sensory neural hearing loss, J. Pediat. 70:621–623 (1967).

    CAS  PubMed  Google Scholar 

  223. Robinson, G. C., Miller, J. R., and Bensimon, J. R., Familial ectodermal dysplasia with sensorineural deafness and other anomalies, Pediat. 30:797–802 (1962).

    Google Scholar 

  224. Romano, C., Gemme, G., and Pongiglione, R., Aritmie cardiache rare delPetà pediatrica, Clin. Pediat. 45:656–683 (1963).

    CAS  Google Scholar 

  225. Rosenberg, R. N., and Chutorian, A., Familial opticoacoustic nerve degeneration and polyneuropathy, Neurology 17:827–832 (1967).

    CAS  PubMed  Google Scholar 

  226. Rosin, S., Die statistische Erfassung etogener Fälle bei einfach rezessivem Erbgang mit Anwendung auf die rezessive Taubstummheit, Arch. Julius Klaus-Stift. Vererbungsforsch. 38:253 (1963).

    CAS  Google Scholar 

  227. Rovin, S., Dachi, S. F., Borenstein, T. B., and Cotler, W. B., Mandibulofacial dysostosis: a familial study of five generations, J. Pediat. 65:215–221 (1964).

    CAS  PubMed  Google Scholar 

  228. Rovine, W., and Mulford, E. H., Bilateral acoustic neurinomas with multiple meningiomas, Neurology 10:323–324 (1960).

    CAS  PubMed  Google Scholar 

  229. Rowley, P. T., Familial hearing loss associated with branchial fistulas, Pediatrics 44:978–985 (1969).

    CAS  PubMed  Google Scholar 

  230. Sánchlez Cascos, A., Sanchez-Harguindey, L., and de Rábago, P., Cardio-auditory syndromes. Cardiac and genetic study of 511 deaf-mute children, Brit. Heart J. 31:26–33 (1969).

    Google Scholar 

  231. Sando, I., Hemenway, W. G., and Morgan, W. R., Histopathology of the temporal bones in mandibulo-facial dysostosis (Treacher Collins syndrome), Trans. Amer. Acad. Ophthal. Otolaryngol. 72:913–924 (1968).

    CAS  Google Scholar 

  232. Sank, D., Genetic aspects of early total deafness, in: “Family and Mental Health Problems in a Deaf Population” (I. D. Rainer, K. Z. Altschuler, F. J. Kallmann, and W. E. Deming, eds.), pp. 28–81, Columbia University Press, New York (1963).

    Google Scholar 

  233. Sataloff, J., Pastore, P. N., and Bloom, E., Sex-linked hereditary deafness, Amer. J. Human Genet. 7:201–203 (1955).

    CAS  Google Scholar 

  234. Saunders, W. H., Conductive deafness due to Pyle’s disease, Laryngoscope 67:147–154 (1957).

    CAS  PubMed  Google Scholar 

  235. Schwann, J., Keratosis palmaris et plantaris cum surditate congenita et leuconychia totali unguium, Dermatologica 126:335–353 (1963).

    CAS  PubMed  Google Scholar 

  236. Shambaugh, G. E., Fenestration operation for otosclerosis, Acta Otolaryngol. Suppl. 79:9–101 (1949).

    Google Scholar 

  237. Shambaugh, G. E., Otosclerosis, in: “Otolaryngology” (G. M. Coats, H. P. Schenk, and M. V. Miller, eds.), W. F. Prior Co., Hagerstown (1956).

    Google Scholar 

  238. Shaw, R. F., and Glover, R. A., Abnormal segregation in hereditary renal disease with deafness, Amer. J. Human Genet. 13:89–97 (1961).

    CAS  Google Scholar 

  239. Shine, I., and Watson, J. R., personal communication, cited by V. A. McKusick “Mendelian Inheritance in Man,” 2nd ed., p. 395, Johns Hopkins Press, Baltimore (1968).

    Google Scholar 

  240. Smith, A. B., Unilateral hereditary deafness, Lancet 2:1172–1173 (1939).

    Google Scholar 

  241. Smith, H. W., Effect of pregnancy on otosclerosis, AMA Arch. Otolaryngol. 48: 159–170 (1948).

    CAS  Google Scholar 

  242. Sohar, E., Renal disease, inner ear deafness, and ocular changes: a new heredofamilial syndrome, AMA Arch. Int. Med. 97:627–630 (1956).

    CAS  Google Scholar 

  243. Soifer, N., Weaver, K., Endahl, G. L., and Holdsworth, C. E., Otosclerosis: a review, Acta Otolaryngol. Suppl. 269:1–25 (1970).

    CAS  PubMed  Google Scholar 

  244. Somerville, J., and Bonham-Carter, R. E., The heart in lentiginosis, Brit. Heart J. 34:58–66 (1972).

    CAS  PubMed Central  PubMed  Google Scholar 

  245. Sooy, F. A., The management of middle ear lesions simulating otosclerosis, Ann. Oto. Rhin. Laryngol. 69:540–558 (1960).

    CAS  Google Scholar 

  246. Stanbury, J. B., Familial goiter, in: “The Metabolic Basis of Inherited Disease” (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds.), 3rd ed., pp. 223–265, MacGraw-Hill, New York (1972).

    Google Scholar 

  247. Stanbury, J. B., and Hedge, A. N., A study of a family of goitrous cretins, J. Clin. Endocrinol. 10:1471–1484 (1950).

    CAS  Google Scholar 

  248. Steinberg, D., The metabolic basis of Refsum syndrome, Birth Defects Orig. Art. Ser. 7:42–52 (1971).

    CAS  PubMed  Google Scholar 

  249. Steinberg, D., Herndon, J. H, Uhlendorf, B. W., Mize, C. E., Avigan, J., and Milne, G. W. A., Refsum’s disease: nature of the enzyme defect, Science 156:1740–1742 (1967).

    CAS  PubMed  Google Scholar 

  250. Stevenson, A. C., and Cheeseman, E. A., Hereditary deaf-mutism with particular reference to Northern Ireland, Ann. Human Genet. 20:177–231 (1956).

    CAS  Google Scholar 

  251. Stevenson, A. C., Johnston, H. A., Stewart, M. I. P., and Golding, D. R., Congenital malformation, Bull. World Health Org. 34, Suppl. 1–127 (1966).

    Google Scholar 

  252. Stewart, J., and Bergstrom, L., Familial hand abnormality and sensorineural deafness: a new syndrome, J. Pediat. 78:102–110 (1971).

    CAS  PubMed  Google Scholar 

  253. Stovin, J. J., Lyon, J. A., Jr., and Clemmens, R. L., Mandibulo-facial dysostosis, Radiology 74:225–231 (1960).

    CAS  PubMed  Google Scholar 

  254. Strasburger, A. K., Hawkins, M. R., Eldridge, R., Hargrave, R. L., and McKusick, V. A., Symphalangism: genetic and clinical aspects, Bull Johns Hopkins Hosp. 117:108–127 (1965).

    Google Scholar 

  255. Summitt, R. L., Familial Goldenhar syndrome, Birth Defects Orig. Art. Ser. 5:106–109 (1969).

    Google Scholar 

  256. Sunga, R. N., and Sloan, L. L., Pigmentary degeneration of the retina: early diagnosis and natural history, Invest. Ophthal. 6:309–325 (1967).

    CAS  PubMed  Google Scholar 

  257. Swanson, S. L., Santen, R. J., and Smith, D. W., Multiple lentigines syndrome: new findings of hypogonatropism, hyposmia and unilateral renal agenesis, J. Pediat. 78:1037–1039 (1971).

    CAS  PubMed  Google Scholar 

  258. Taybi, H., Generalized skeletal dysplasia with multiple anomalies, Amer. J. Roentgenol. 88:450–457 (1962).

    CAS  PubMed  Google Scholar 

  259. Telfer, M. A., Sugar, M., Jeager, E. A., and Mulcahy, J., Dominant piebald trait (white forelock and leukoderma) with neurological impairment, Amer. J. Human Genet. 23:383–389 (1971).

    CAS  Google Scholar 

  260. Usher, C. H., On the inheritance of retinitis pigmentosa with notes of cases, Roy. London Ophthal. Hosp. Rpts. 19:130 (1914).

    Google Scholar 

  261. Van Bruggen, H. W., Sebus, J., and vanHeyst, A. N. P., Convulsive syncope resulting from arrhythmia in a case of congenital deafness with ECG abnormalities, Amer. Heart J, 78:81–86 (1969).

    PubMed  Google Scholar 

  262. Vanderbilt University Hereditary Deafness Study Group, Dominantly inherited low-frequency hearing loss, Arch. Otolaryngol. 88:242–250 (1968).

    Google Scholar 

  263. Vernon, M., Rh factor and deafness, the problem, its psychological, physical and educational manifestations, Exceptional Children 34:5–12 (1967).

    CAS  PubMed  Google Scholar 

  264. Vernon, M., “Multiply Handicapped Deaf Children: Medical, Educational and Psychological Considerations,” Research Monograph, Council for Exceptional Children, Washington (1969).

    Google Scholar 

  265. Vesell, E. S., Symphalangism, strabismus and hearing loss in a mother and daughter, New Engl. J. Med. 263:839–842 (1960).

    CAS  PubMed  Google Scholar 

  266. Waardenburg, P. J., A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness, Amer. J. Human Genet. 3:195–253 (1951).

    CAS  Google Scholar 

  267. Walbaum, R., Fontaine, G., Lienhardt, J., and Piquet, J. J., Surdité familiale avec osteo-onycho-dysplasie, J. Génét. Hum. 18:101–108 (1970).

    CAS  Google Scholar 

  268. Walther, R. J., Polansky, B. J., and Grots, I. A., Electrocardiographic abnormalities in a family with generalized lentigo, New Engl. J. Med. 275:1220–1225 (1966).

    CAS  PubMed  Google Scholar 

  269. Warburg, M., Nome’s disease, Acta Ophthal Suppl. 89:1–147 (1966).

    Google Scholar 

  270. Warburg, M., Nome’s disease, Birth Defects Orig. Art. Ser. 7:117–124 (1971).

    CAS  PubMed  Google Scholar 

  271. Warburg, M., Hauge, M., and Sanger, R., Nome’s disease and the Xg blood group system: linkage data, Acta Genet. Statist. Med. 15:103–115 (1965).

    CAS  PubMed  Google Scholar 

  272. Ward, O. C., A new familial cardiac syndrome in children, J. Irish Med. Assoc. 54:103–107 (1964).

    CAS  Google Scholar 

  273. Weiner, G., Psychologic correlates of premature birth: a review, J. Nerv. Ment. Dis. 134:129–144 (1962).

    Google Scholar 

  274. Weinstein, E. D., and Cohen, M. M., Sex-linked cleft palate: report of a family and review of 77 kindreds, J. Med. Genet. 3:17–22 (1966).

    CAS  PubMed Central  PubMed  Google Scholar 

  275. White, J. W., Conductive deafness due to congenital absence of the long process of the incus, Clin. Proc. Washington, D.C., Child. Hosp. 20:283–288 (1964).

    CAS  Google Scholar 

  276. W.H.O. Scientific Group, Genetic disorders: prevention, treatment, and rehabilitation, W.H.O. Tech. Kept. 497:1–46 (1972).

    Google Scholar 

  277. Wildervanck, L. S., Hereditary malformations of the ear in three generations, Acta Otolaryngol. 54:553–560 (1962).

    CAS  PubMed  Google Scholar 

  278. Wildervanck, L. S., Dysostosis mandibulofacial (Franceschetti-Zwahlen) in four generations, Acta Genet. Med. 9:447–451 (1960).

    CAS  Google Scholar 

  279. Williams, F., and Roblee, L. A., Hereditary nerve deafness, Arch. Otolaryngol. 75:69–77 (1962).

    CAS  PubMed  Google Scholar 

  280. Witkop, C. J., Albinism, in: “Advances in Human Genetics” (H. Harris and K. Hirschhorn, eds.), Vol. 2, pp. 61–142, Plenum Press, New York (1971).

    Google Scholar 

  281. Woolf, C. M., Dolowitz, D. A., and Aldous, H. E., Congenital deafness associated with piebaldness, Arch. Otolaryngol. 82:244–250 (1965).

    CAS  PubMed  Google Scholar 

  282. Young, D. F., Eldridge, R., Nager, G. T., Deland, F. H., and McNew, J., Hereditary bilateral acoustic neuroma (central neurofibromatosis), Birth Defects Orig. Art. Ser. 7:73–86 (1971).

    CAS  Google Scholar 

  283. Ziprkowski, L., Krakowski, A., Adam, A., Costeff, H., and Sade, J., Partial albinism and deafmutism, Arch. Dermat. 86:530–539 (1962).

    CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Medical Genetics and Medicine, Indiana University Medical School, Indianapolis, Indiana, USA

    Walter E. Nance

  2. Department of Audiology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA

    Freeman E. McConnell

Authors
  1. Walter E. Nance
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Freeman E. McConnell
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. University College London, London, England

    Harry Harris (Galton Professor of Human Genetics) (Galton Professor of Human Genetics)

  2. Mount Sinai School of Medicine, The City University New York, USA

    Kurt Hirschhorn (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics) (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics)

Rights and permissions

Reprints and permissions

Copyright information

© 1973 Plenum Press, New York

About this chapter

Cite this chapter

Nance, W.E., McConnell, F.E. (1973). Status and Prospects of Research in Hereditary Deafness. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 4. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8261-8_3

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-8261-8_3

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4615-8263-2

  • Online ISBN: 978-1-4615-8261-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation