Auditory neuropathy in siblings with Waardenburg's syndrome

International Journal of Pediatric Otorhinolaryngology

Volumn 67, Issue 10, 2003, Pages 1133-1142

  Jutras, Benoît ^a,d   Russell, Laura J ^b   Hurteau, Anne Marie ^b   Chapdelaine, Martine ^c  

^a UNIVERSITY OF OTTAWA   (Canada)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c Institut Raymond Dewar   (Canada)

^d UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Audiological evaluation; Auditory dys synchrony; Auditory neuropathy; Electrophysiology; Genetic evaluation; Hearing loss; Waardenburg's syndrome

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; COCHLEA; DIAGNOSTIC IMAGING; ELECTROCARDIOGRAPHY; EVOKED AUDITORY RESPONSE; EVOKED BRAIN STEM RESPONSE; FAMILY HISTORY; FEMALE; HEARING LOSS; HUMAN; MALE; NERVE CELL; NEUROPATHY; OTOACOUSTIC EMISSION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; VESTIBULOCOCHLEAR NERVE DISEASE; WAARDENBURG SYNDROME;

EID: 0141750455     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-5876(03)00200-3     Document Type: Article

References (22)

1. 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. 3:1951;195-253.
2. Read A.P., Newton V.E. Waardenburg syndrome. J. Med. Genet. 34:1997;656-665.
3. Farrer L.A., Grundfast K.M., Amos K.S., Asher J.H., Beighton P., Diehl S.R., Fex J., Foy C., Friedman T.B., et al. Waardenburg sundrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am. J. Hum. Genet. 50:1992;902-913.
4. Tassabehji M., Read A.P., Newton V.E., Harris R., Balling R., Gruss P., Strachan T. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature. 355:1992;635-636.
5. Smith S., Kolodziej P., Haskins Olney A. Waardenburg syndrome. Ear Nose Throat J. 77:1998;257-258.
6. Newton V., Read A. Waardenburg syndrome. Aud. Med. 1:2003;77-88.
7. Bodian M., Carter C.O. A family study of Hirschsprung's disease. Ann. Hum. Genet. 26:1963;263-277.
8. Liu X.Z., Newton V.E., Read A.P. Waardenburg sundrome type II: phenotypic findings and diagnostic criteria. Am. J. Med. Genet. 55:1995;95-100.
9. Newton V. Hearing loss and Waardenburg's syndrome: implications for genetic counseling. J. Laryngol. Otol. 104:1990;97-103.
10. Hughes A.E., Newton V.E., Liu X.Z., Read A.P. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nat. Genet. 7:1994;509-512.
11. Tassabehji M., Newton V.E., Liu X.Z., Brady A., Donnai D., Krajewska-Walasek M., et al. The mutational spectrum in Waardenburg syndrome. Hum. Mol. Genet. 4:1995;2131-2137.
12. Rarey K.E., Davis L.E. Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. Int. J. Pediatr. Otorhinolaryngol. 8:1984;181-189.
13. Kemp D.T. Stimulated acoustic emissions from within the humain auditory system. J. Acoust. Soc. Am. 64:1978;1386-1391.
14. Lutman M.E., Mason S.M., Sheppard S., Gibbon K.P. Differential diagnostic potential of otoacoustic emissions: a case study. Audiology. 28:1989;205-210.
15. Starr A., Picton T.W., Sininger Y., Hood L.J., Berlin C.I. Auditory neuropathy. Brain. 119:1996;741-753.
16. Doyle K.J., Sininger Y., Starr A. Auditory neuropathy in children. Laryngoscope. 108:1998;1374-1377.
17. Jasper H.H. The ten twenty electrode system of the international federation. Electroencephalogr. Clin. Neurophysiol. 10:1958;371-375.
18. Sininger Y., Oba S. Patients with auditory neuropathy: who are they and what can they hear? Sininger Y., Starr A. Auditory Neuropathy: A New Perspective on Hearing Disorders. 2001;15-35 Singular, San Diego.
19. Deltenre P., Mansbach A.L., Bozet C., Clercx A., Hecox K.E. Auditory neuropathy: a report on three cases with early onsets and major neonatal illnesses. Electroencephalogr. Clin. Neurophysiol. 104:1997;17-22.
20. Kraus N. Auditory neuropathy: an historical and current perspective. Sininger Y., Starr A. Auditory Neuropathy: A New Perspective on Hearing Disorders. 2001;1-14 Singular, San Diego.
21. Simmons J.L., Laudin Beauchaine K. Auditory neuropathy: case study with hyperbilirubinemia. J. Am. Acad. Audiolo. 11:2000;337-347.
22. Stein L.K., Tremblay K., Pasternak J., Banerjee S., Lindermann K., Kraus N. Brainstem abnormalities in neonates with normal otoacoustics emissions. Sem. Hear. 17:1996;197-213.