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. 1964 Dec;1(2):118–151. doi: 10.1136/jmg.1.2.118

Review Article: Profound Childhood Deafness

G R Fraser 1
PMCID: PMC1012760  PMID: 14234108

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Selected References

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  1. ALTMANN F. Problem of so-called congenital atresia of the ear; histologic report of a new case. Arch Otolaryngol. 1949 Dec;50(6):759-88, illust. doi: 10.1001/archotol.1949.00700010774010. [DOI] [PubMed] [Google Scholar]
  2. AMALRIC P. [A new type of tapeto-retinal degeneration in the course of deaf-mutism]. Bull Mem Soc Fr Ophtalmol. 1960;73:196–212. [PubMed] [Google Scholar]
  3. BARR B., LUNDSTROM R. Deafness following maternal rubella. Retrospective and prospective studies. Acta Otolaryngol. 1961 May-Jun;53:413–423. doi: 10.3109/00016486109126507. [DOI] [PubMed] [Google Scholar]
  4. BARTON M. E., COURT S. D., WALKER W. Causes of severe deafness in schoolchildren in Northumberland and Durham. Br Med J. 1962 Feb 10;1(5275):351–355. doi: 10.1136/bmj.1.5275.351. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. BRUNET R. Le palais ogival, stigmate constitutionnel de la surdi-mutité dite sporadique. J Genet Hum. 1956 Apr;5(1):9–31. [PubMed] [Google Scholar]
  6. BUCH N. H., JORGENSEN M. B. Pathological studies of deafmutes. Arch Otolaryngol. 1963 Mar;77:246–253. [PubMed] [Google Scholar]
  7. CAMPBELL B., CAMPBELL N. R., SWIFTS Waardenbrug's syndrome. A variation of the first arch syndrome. Arch Dermatol. 1962 Dec;86:718–724. doi: 10.1001/archderm.1962.01590120016003. [DOI] [PubMed] [Google Scholar]
  8. CHUNG C. S., ROBINSON O. W., MORTON N. E. A note on deaf mutism. Ann Hum Genet. 1959 Dec;23:357–366. doi: 10.1111/j.1469-1809.1959.tb01479.x. [DOI] [PubMed] [Google Scholar]
  9. CITRON L., EXLEY D. Recent work on the biochemistry of the labyrinthine fluids. Proc R Soc Med. 1957 Sep;50(9):697–701. [PMC free article] [PubMed] [Google Scholar]
  10. COLES R. B., SIMPSON W. T., WILKINSON D. S. DEQUALINIUM: A POSSIBLE COMPLICATION OF ITS USE IN BALANITIS. Lancet. 1964 Sep 5;2(7358):531–531. doi: 10.1016/s0140-6736(64)90485-4. [DOI] [PubMed] [Google Scholar]
  11. CRABTREE N., GERRARD J. Perceptive deafness associated with severe neonatal jaundice; a report of 16 cases. J Laryngol Otol. 1950 Aug;64(8):482–506. doi: 10.1017/s0022215100012329. [DOI] [PubMed] [Google Scholar]
  12. CROSSE V. M., MEYER T. C., GERRARD J. W. Kernicterus and prematurity. Arch Dis Child. 1955 Dec;30(154):501–508. doi: 10.1136/adc.30.154.501. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. DANISH J. M., TILLSON J. K., LEVITAN M. Multiple anomalies in congenitally deaf children. Eugen Q. 1963 Mar;10:12–21. doi: 10.1080/19485565.1963.9987537. [DOI] [PubMed] [Google Scholar]
  14. DAWES J. D. VIRUS LESIONS OF THE CRANIAL NERVES WITH SPECIAL REFERENCE TO THE VIII NERVE. Proc R Soc Med. 1963 Sep;56:777–780. [PMC free article] [PubMed] [Google Scholar]
  15. DEOL M. S., ROBINS M. W. The spinner mouse. J Hered. 1962 May-Jun;53:133–136. doi: 10.1093/oxfordjournals.jhered.a107147. [DOI] [PubMed] [Google Scholar]
  16. DERAEMAEKER R. Congenital deafness and goiter. Am J Hum Genet. 1956 Dec;8(4):253–256. [PMC free article] [PubMed] [Google Scholar]
  17. DIGEORGE A. M., OLMSTED R. W., HARLEY R. D. Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects. J Pediatr. 1960 Nov;57:649–669. doi: 10.1016/s0022-3476(60)80159-x. [DOI] [PubMed] [Google Scholar]
  18. ELMAN D. S. Familial association of nerve deafness with nodular goiter and thyroid carcinoma. N Engl J Med. 1958 Jul 31;259(5):219–223. doi: 10.1056/NEJM195807312590505. [DOI] [PubMed] [Google Scholar]
  19. EMERSON E. Retinitis: pigmentosa or rubella. Am J Ophthalmol. 1958 Jan;45(1):93–101. doi: 10.1016/0002-9394(58)91399-0. [DOI] [PubMed] [Google Scholar]
  20. EVERBERG G., RATJEN E., SORENSEN H. WILDERVANCK'S SYNDROME. KLIPPEL-FEIL'S SYNDROME ASSOCIATED WITH DEAFNESS AND RETRACTION OF THE EYEBALL. Br J Radiol. 1963 Aug;36:562–567. doi: 10.1259/0007-1285-36-428-562. [DOI] [PubMed] [Google Scholar]
  21. FALBE-HANSEN J., THOMSEN E. HISTOCHEMICAL STUDIES ON GLYCOGEN IN THE COCHLEA OF THE NORMAL GUINEA PIG. Acta Otolaryngol. 1963 May;56:429–436. doi: 10.3109/00016486309127434. [DOI] [PubMed] [Google Scholar]
  22. FEINMESSER M., LANDAU J. Deafness in toxoplasmosis. J Laryngol Otol. 1961 Feb;75:171–174. doi: 10.1017/s0022215100057625. [DOI] [PubMed] [Google Scholar]
  23. FEINMESSER M., ZELIG S. Congenital deafness associated with onychodystrophy. Arch Otolaryngol. 1961 Nov;74:507–508. doi: 10.1001/archotol.1961.00740030518004. [DOI] [PubMed] [Google Scholar]
  24. FISCH L. Deafness in cerebral-palsied school-children. Lancet. 1955 Aug 20;269(6886):370–371. doi: 10.1016/s0140-6736(55)92354-0. [DOI] [PubMed] [Google Scholar]
  25. FOWLER E. P., Jr, BASEK M. Causes of deafness in young children. AMA Arch Otolaryngol. 1954 Apr;59(4):476–484. doi: 10.1001/archotol.1954.00710050488006. [DOI] [PubMed] [Google Scholar]
  26. FRASER G. R., FROGGATT P., MURPHY T. GENETICAL ASPECTS OF THE CARDIO-AUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN (CONGENITAL DEAFNESS AND ELECTROCARDIOGRAPHIC ABNORMALITIES). Ann Hum Genet. 1964 Nov;28:133–157. doi: 10.1111/j.1469-1809.1964.tb00469.x. [DOI] [PubMed] [Google Scholar]
  27. FRASER G. R., MORGANS M. E., TROTTER W. R. The syndrome of sporadic goitre and congenital deafness. Q J Med. 1960 Apr;29:279–295. [PubMed] [Google Scholar]
  28. FRASER G. R., TROTTER W. R. GOITRE PAR D'EFAUT DE FIXATION DE L'IODE. Expos Annu Biochim Med. 1964;25:205–212. [PubMed] [Google Scholar]
  29. GORDON N., HUDSON R. E. Refsum's syndrome; heredopathia atactica polyneuritiformis; a report of three cases, including a study of the cardiac pathology. Brain. 1959 Mar;82(1):41–55. doi: 10.1093/brain/82.1.41. [DOI] [PubMed] [Google Scholar]
  30. GRUNEBERG H. Hereditary lesions of the labyrinth in the mouse. Br Med Bull. 1956 May;12(2):153–157. doi: 10.1093/oxfordjournals.bmb.a069538. [DOI] [PubMed] [Google Scholar]
  31. Gupta S. P., Saxena R. C. CRYPTOPHTHALMOS. Br J Ophthalmol. 1962 Oct;46(10):629–632. doi: 10.1136/bjo.46.10.629. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. HATA T. Genetic analysis of the deaf in Hawaii. Hawaii Med J. 1955 Mar-Apr;14(4):307–309. [PubMed] [Google Scholar]
  33. HERNDON C. N. Genetics of the lipidoses. Res Publ Assoc Res Nerv Ment Dis. 1954;33:239–258. [PubMed] [Google Scholar]
  34. HINOJOSA R. Pathohistological aural changes in the progeny of a mother with pseudohypoparathyroidism. Ann Otol Rhinol Laryngol. 1958 Dec;67(4):964–971. doi: 10.1177/000348945806700405. [DOI] [PubMed] [Google Scholar]
  35. HOLBOROW C. A. Deafness and the Treacher Collins syndrome. J Laryngol Otol. 1961 Nov;75:978–984. doi: 10.1017/s0022215100058758. [DOI] [PubMed] [Google Scholar]
  36. HOUGHTON N. I. WAARDENBURG'S SYNDROME WITH DEAFNESS AS THE PRESENTING SYMPTOM. REPORT OF TWO CASES. N Z Med J. 1964 Feb;63:83–89. [PubMed] [Google Scholar]
  37. IVSTAM B. Rubella and deaf-mutism in Sweden. Acta Otolaryngol. 1951 Oct;39(5):380–387. doi: 10.3109/00016485109119267. [DOI] [PubMed] [Google Scholar]
  38. JACKSON A. D. Non-endemic goitrous cretinism. Arch Dis Child. 1954 Dec;29(148):571–574. doi: 10.1136/adc.29.148.571. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. JACKSON W. P., LINDER G. C. Innate functional defects of the renal tubules, with particular reference to the Fanconi syndrome; cases with retinitis pigmentosa. Q J Med. 1953 Apr;22(86):133–156. [PubMed] [Google Scholar]
  40. JERVELL A., LANGE-NIELSEN F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J. 1957 Jul;54(1):59–68. doi: 10.1016/0002-8703(57)90079-0. [DOI] [PubMed] [Google Scholar]
  41. KEIZER D. P. R. Een nieuwe vorm van congenitale erfelijke doofheid (syndroom van Waardenburg). Ned Tijdschr Geneeskd. 1952 Oct 11;96(41):2541–2543. [PubMed] [Google Scholar]
  42. KELEMEN G. Toxoplasmosis and congenital deafness. AMA Arch Otolaryngol. 1958 Nov;68(5):547–561. doi: 10.1001/archotol.1958.00730020569003. [DOI] [PubMed] [Google Scholar]
  43. KERN G. [On the problem of intrauterine streptomycin damage]. Schweiz Med Wochenschr. 1962 Jan 20;92:77–79. [PubMed] [Google Scholar]
  44. KINNEY C. E. Hearing impairments in children. Laryngoscope. 1953 Mar;63(3):220–226. doi: 10.1288/00005537-195303000-00004. [DOI] [PubMed] [Google Scholar]
  45. LEVINE S. A., WOODWORTH C. R. Congenital deaf-mutism, prolonged QT interval, syncopal attacks and sudden death. N Engl J Med. 1958 Aug 28;259(9):412–417. doi: 10.1056/NEJM195808282590902. [DOI] [PubMed] [Google Scholar]
  46. LINDSAY J., HARRISON R. S. The pathology of rubella deafness. J Laryngol Otol. 1954 Jul;68(7):461–464. doi: 10.1017/s0022215100049872. [DOI] [PubMed] [Google Scholar]
  47. LIU J. H., LIU C., LI L., TENG Y. C., T'AN H. C. A statistical study of 560 cases of the deaf in Peking. Chin Med J. 1957 Sep;75(9):753–763. [PubMed] [Google Scholar]
  48. LIVINGSTONE G. Hearing and speech disorders in childhood. Cereb Palsy Bull. 1961;3:46–51. doi: 10.1111/j.1469-8749.1961.tb10331.x. [DOI] [PubMed] [Google Scholar]
  49. LYON M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. doi: 10.1038/190372a0. [DOI] [PubMed] [Google Scholar]
  50. MARAN A. G. THE TREACHER COLLINS SYNDROME. J Laryngol Otol. 1964 Feb;78:135–151. doi: 10.1017/s0022215100061922. [DOI] [PubMed] [Google Scholar]
  51. MARCUS R. E., SMALL H., EMANUEL B. Ototoxic medication in premature children. Arch Otolaryngol. 1963 Feb;77:198–204. doi: 10.1001/archotol.1963.00750010204016. [DOI] [PubMed] [Google Scholar]
  52. MARGOLIS E. A new hereditary syndrome--sex linked deafmutism associated with total albinism. Acta Genet Stat Med. 1962;12:12–19. doi: 10.1159/000151176. [DOI] [PubMed] [Google Scholar]
  53. MARTENSSON B. Dominant hereditary nerve deafness. Acta Otolaryngol. 1960 Sep;52:270–274. doi: 10.3109/00016486009123147. [DOI] [PubMed] [Google Scholar]
  54. MATTHEWS W. B. Familial ataxia, deaf-mutism, and muscular wasting. J Neurol Neurosurg Psychiatry. 1950 Nov;13(4):307–311. doi: 10.1136/jnnp.13.4.307. [DOI] [PMC free article] [PubMed] [Google Scholar]
  55. MORGANS M. E., TROTTER W. R. Association of congenital deafness with goitre; the nature of the thyroid defect. Lancet. 1958 Mar 22;1(7021):607–609. doi: 10.1016/s0140-6736(58)90866-3. [DOI] [PubMed] [Google Scholar]
  56. McKENZIE J. The first arch syndrome. Arch Dis Child. 1958 Oct;33(171):477–486. doi: 10.1136/adc.33.171.477. [DOI] [PMC free article] [PubMed] [Google Scholar]
  57. PARKER N. Congenital deafness due to a sex-linked recessive gene. Am J Hum Genet. 1958 Jun;10(2):196–200. [PMC free article] [PubMed] [Google Scholar]
  58. PARTINGTON M. W. An English family with Waardenburg's syndrome. Arch Dis Child. 1959 Apr;34(174):154–157. doi: 10.1136/adc.34.174.154. [DOI] [PMC free article] [PubMed] [Google Scholar]
  59. PATAU K., SMITH D. W., THERMAN E., INHORN S. L., WAGNER H. P. Multiple congenital anomaly caused by an extra autosome. Lancet. 1960 Apr 9;1(7128):790–793. doi: 10.1016/s0140-6736(60)90676-0. [DOI] [PubMed] [Google Scholar]
  60. PERRIN C. Corrélations audiométriques et électro-encephalographiques au cours des dégénérences tapéto-rétiniennes; à propos de 22 observations; les abiotrophies oto-neuro-rétiniennes. Rev Laryngol Otol Rhinol (Bord) 1958 Nov;79(11):1274–contd. [PubMed] [Google Scholar]
  61. RICHARDS B. W. Sex-linked deaf-mutism. Ann Hum Genet. 1963 Feb;26:195–199. doi: 10.1111/j.1469-1809.1963.tb01975.x. [DOI] [PubMed] [Google Scholar]
  62. ROBBINS D. LA DYSOSTOSE MANDIBULO-FACIALE, SES ASSOCIATIONS CLINIQUES ET SON MODE D'H'ER'EDIT'E; REVUE DE LA LITT'ERATURE R'ECENTE. J Genet Hum. 1963 Jun;12:1–51. [PubMed] [Google Scholar]
  63. ROBERTO V., CARBONARA L. Situazione endocrina nella retinite pigmentosa associata a degenerazione cocleo-vestibolare. Arch Ital Otol Rinol Laringol. 1959 Mar-Apr;70(2):200–211. [PubMed] [Google Scholar]
  64. ROSENDAL T. Thalidomide and aplasia-hypoplasia of the otic labyrinth. Lancet. 1963 Mar 30;1(7283):724–725. doi: 10.1016/s0140-6736(63)91487-9. [DOI] [PubMed] [Google Scholar]
  65. SATALOFF J., PASTORE P. N., BLOOM E. Sex-linked hereditary deafness. Am J Hum Genet. 1955 Jun;7(2):201–203. [PMC free article] [PubMed] [Google Scholar]
  66. SCHEIE H. G., HAMBRICK G. W., Jr, BARNESS L. A. A newly recognized forme fruste of Hurler's disease (gargoylism). Am J Ophthalmol. 1962 May;53:753–769. [PubMed] [Google Scholar]
  67. SCOTT F. P., van BEUKERING J. The Waardenburg syndrome. S Afr Med J. 1962 Apr 21;36:299–300. [PubMed] [Google Scholar]
  68. SETTELMAYER J. R., HOGAN M. Waardenburg's syndrome--report of a case in a non-Dutch family. N Engl J Med. 1961 Mar 9;264:500–501. doi: 10.1056/NEJM196103092641008. [DOI] [PubMed] [Google Scholar]
  69. SHAW D. A., DUNCAN L. J. Optic atrophy and nerve deafness in diabetes mellitus. J Neurol Neurosurg Psychiatry. 1958 Feb;21(1):47–49. doi: 10.1136/jnnp.21.1.47. [DOI] [PMC free article] [PubMed] [Google Scholar]
  70. SLATIS H. M. Comments on the inheritance of deaf mutism in Northern Ireland. Ann Hum Genet. 1958 Feb;22(2):153–157. doi: 10.1111/j.1469-1809.1957.tb01930.x. [DOI] [PubMed] [Google Scholar]
  71. STANBURY J. B. THE METABOLIC ERRORS IN CERTAIN TYPES OF FAMILIAL GOITER. Recent Prog Horm Res. 1963;19:547–577. [PubMed] [Google Scholar]
  72. STEVENSON A. C., CHEESEMAN E. A. Hereditary deaf mutism, with particular reference to Northern Ireland. Ann Hum Genet. 1956 Feb;20(3):177–231. doi: 10.1111/j.1469-1809.1956.tb01367.x. [DOI] [PubMed] [Google Scholar]
  73. STOLLER F. M. A deafmute with two congenital syndromes. Arch Otolaryngol. 1962 Jul;76:42–46. doi: 10.1001/archotol.1962.00740050046008. [DOI] [PubMed] [Google Scholar]
  74. Stephens F. E., Dolowitz D. A. Hereditary nerve deafness. Am J Hum Genet. 1949 Sep;1(1):37–51. [PMC free article] [PubMed] [Google Scholar]
  75. THIEME E. T. A report of the occurrence of deaf-mutism and goiter in four of six siblings of a North American family. Ann Surg. 1957 Dec;146(6):941–948. doi: 10.1097/00000658-195712000-00008. [DOI] [PMC free article] [PubMed] [Google Scholar]
  76. TIETZ W. A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Am J Hum Genet. 1963 Sep;15:259–264. [PMC free article] [PubMed] [Google Scholar]
  77. TROTTER W. R. The association of deafness with thyroid dysfunction. Br Med Bull. 1960 May;16:92–98. doi: 10.1093/oxfordjournals.bmb.a069828. [DOI] [PubMed] [Google Scholar]
  78. VAN DISHOECK H. A., BIERMAN T. A. Sudden perceptive deafness and viral infection; report of the first one hundred patients. Ann Otol Rhinol Laryngol. 1957 Dec;66(4):963–980. doi: 10.1177/000348945706600406. [DOI] [PubMed] [Google Scholar]
  79. VAN EGMOND A. A. Congenital deafness. J Laryngol Otol. 1954 Jul;68(7):429–443. doi: 10.1017/s0022215100049859. [DOI] [PubMed] [Google Scholar]
  80. 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. Am J Hum Genet. 1951 Sep;3(3):195–253. [PMC free article] [PubMed] [Google Scholar]
  81. WILDERVANCK L. S. Een geval van aandoening van Klippel-Feil, gecombineerd met abducensparalyse, retractio bulbi en doofstomheid. Ned Tijdschr Geneeskd. 1952 Nov 1;96(44):2752–2756. [PubMed] [Google Scholar]
  82. WILLIAMS F., ROBLEE L. A. Hereditary nerve deafness. A follow-up of four cases in one family. Arch Otolaryngol. 1962 Jan;75:69–77. doi: 10.1001/archotol.1962.00740040073007. [DOI] [PubMed] [Google Scholar]
  83. WILSON T. G., KANE F. Congenital deafness in white cats. Acta Otolaryngol. 1959 May-Aug;50(3-4):269–277. doi: 10.3109/00016485909129195. [DOI] [PubMed] [Google Scholar]
  84. ZIPRKOWSKI L., KRAKOWSKI A., ADAM A., COSTEFF H., SADE J. Partial albinism and deaf-mutism due to a recessive sex-linked gene. Arch Dermatol. 1962 Oct;86:530–539. doi: 10.1001/archderm.1962.01590100144027. [DOI] [PubMed] [Google Scholar]

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