Familial Mondini dysplasia

Laryngoscope

Volumn 108, Issue 9, 1998, Pages 1368-1373

  Griffith, Andrew J ^a,c   Telian, Steven A ^a,d   Downs, Catherine ^a   Gorski, Jerome L ^a   Gebarski, Stephen S ^a   Lalwani, Anil K ^b   Sheldon, Susan ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Familial; Hearing loss; Inner ear; Mondini; Sensorineural

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC HETEROGENEITY; HUMAN; INFANT; INNER EAR MALFORMATION; MALE; PEDIGREE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; CHILD; CHILD, PRESCHOOL; DEAFNESS; EAR, INNER; FEMALE; HUMANS; INFANT; KARYOTYPING; MALE; PEDIGREE; SPEECH RECEPTION THRESHOLD TEST; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0031688296     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005537-199809000-00021     Document Type: Article

References (22)

1. Chan KH, Eelkema EA, Furman JMR, Kamerer DB. Familial sensorineural hearing loss: a correlative study of audiologic, radiographic, and vestibular findings. Ann Otol Rhinol Laryngol 1991;100:620-5.
2. Mondini G. Anatomia surdi nati sectio. De Bononiensi Scientiarum et Artium Institute atque Academia Commentarii. Bononiae 1791;7:28-29,419-31.
3. Schuknecht HF. Mondini dysplasia: a clinical and pathological study. Ann Otol Rhinol Laryngol 1980;89(suppl 65):3-23.
4. Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97(suppl 40):1-14.
5. Wildervanck LS, Hoeksema PE, Penning L. Radiological examination of the inner ear of deaf-mutes presenting the cervico-oculo-acusticus syndrome. Acta Otolaryngol 1966;61:445-53.
6. Adkins WY, Gussen R. Temporal bone findings in the third and fourth pharyngeal pouch (DiGeorge) syndrome. Arch Otolaryngol 1974;100:206-8.
7. Johnsen T, Larsen C, Friis J, Hougaard-Jensen F. Pendred's syndrome: acoustic, vestibular and radiological findings in 17 patients. J Laryngol Otol 1987;101:1187-92.
8. Fryns JP, Dereymaeker A, Hoefnagels M, Van den Berghe H. Mental retardation, deafness, skeletal abnormalities, and coarse facies with full lips: confirmation of the Fountain syndrome. Am J Med Genet 1987;26:551-5.
9. Braun J, Lerner A, Gershoni-Baruch R. The temporal bone in the Johanson-Blizzard syndrome. J Med Genet 1991;21:580-3.
10. Kahn Z, Adour K. Histologie findings in the temporal bone in trisomy D/D (D/D translocation). Arch Otolaryngol 1978;104:22-5.
11. Schuknecht HF. Pathology of the Ear. edn 2. Malvern: Lea and Febiger; 1993:184.
12. Harada T, Sando I. Temporal bone histopathologic findings in Down's syndrome. Arch Otolaryngol 1981;107:96-103.
13. Parving A. Reliability of Bekesy threshold tracing in identification of carriers of genes for an X-linked disease with deafness. Acte Otolaryngol 1978;85:40-4.
14. Wildervanck LS. Audiometric examination of parents of children born deaf from birth. Arch Otolaryngol Head Neck Surg 1957;65:280-95.
15. Marres HAM, Cremers CWRJ. Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree: audiometric features of the affected persons and the obligate carriers. Arch Otolaryngol Head Neck Surg 1989;115:591-5.
16. Anderson H, Wedenberg E. Identification of normal hearing carriers of genes for deafness. Acte Otolaryngol 1976;82:245-8.
17. Gorlin RJ, Toriello HV, Cohen MM, Jr. Hereditary Hearing Loss and Its Syndromes. New York: Oxford University Press; 1995:50-1.
18. Wildervanck LS. The cervico-oculo-acusticus syndrome. In: Vinken PJ, Bruyn GW, Myranthopoulos NC, eds. Handbook of Clinical Neurology. Amsterdam: North Holland; 1978:123-30.
19. Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genet 1997;17:411-22.
20. Phelps PD, King A, Michaels L. Cochlear dysplasia and meningitis. Am J Otol 1994;15:551-7.
21. Tucci DL, Telian SA, Zimmerman-Phillips S, Zwolan TA, Kileny PR. Cochlear implantation in patients with cochlear malformations. Arch Otolaryngol Head Neck Surg 1995;121:833-8.
22. Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nature Genet 1998;18:215-7.