Practical Approach to Diagnosis and Management of Hereditary Hearing Impairment (HHI)

Conlee J.W. , Gill S.S. , McCandless P.T. Differential susceptibility to gentamycin ototoxicity between albino and pigmented guinea pigs. Hearing Research; 1989; 41: 43–51.

Hood J.D. , Poole J.P. Eye color and susceptibility to TTS. J Acoustic Soc 1976; 59(3): 706–7.

Cremers CWRJ , Rijn P.M. , Hageman M.J. Prevention of serious hearing impairment or deafness in the young child. Proc Royal Soc Med 1989; 82: 483–6.

Fraser G.R. The causes of profound deafness in childhood. Baltimore, Johns Hopkins University Press, 1976; xi.

Konigsmark B.W. , Gorlin R.J. Genetic and metabolic deafness. New York, WB Saunders, 1976; xv–xx.

Black F.O. , Bergstrom L. , Downs M. Congenital Deafness. Boulder, Colorado, Colorado Associated University Press, 1971; 3.

Jaber L. , Shohat M. , Bu X. Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J Med Genet 1992; 29: 86–90.

Hall J.G. Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 1990; 46: 857–873.

Gold M. , Rapin I. , Shanske S. Mitochondrial inheritance of acquired deafness, in Genetics of Hearing Impairment. Ann NY Acad of Sci 1991; 630: 301–2.

Aoki K. , Feldman M.W. Recessive hereditary deafness, assortative mating, and persistence of sign language. Theoretical Population Biology 1991; 39(3): 358–72.

Grundfast K.M. , Camilon F. External auditory canal stenosis and partial atresia without associated anomalies. Ann Otol Rhinol Laryngol 1986; 95(5): 505–9.

Heimler A. , Fox J.E. , Hershey J.E. Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. Am J of Med Gen 1991; 39: 192–5.

Bhat M. , Nelson K.B. Developmental enamel defects in primary teeth in children with cerebral palsy, mental retardation, or hearing defects: a review. Adv Dent Res 1989; 3(2): 132–42.

Winter R.M. , Baraitser M. London Dysmorphology Database. New York, Oxford University Press, 1990.

Pictures of Standard Syndromes and Undiagnosed Malformations (POSSUM) available from the P.O.S.S.U.M. Project, C.P. Export Pty Ltd., 613 St. Kilda Rd., Melbourne, Australia; Phone 61-3-520-5333; Fax: 61-3-520-5411.

Dixon M.J. , Read A.P. , Donnal D. The gene for Treacher-Collins syndrome maps to the long arm chromosome 5. Am J Hum Genet 1991; 49: 17–22.

Farrer L.A. , Grundfast K.M. , Amos J. Waardenburg syndrome (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 1992; 50: 902–13.

Baldwin C.T. , Hoth C. , Amos J. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992; 355: 637–8.

Tassabehji M. , Read A. , Newton V. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992; 355: 635–6.

Cremers CWRJ Otological aspects of the earpit-deafness syndrome. ORL 1982; 43: 223–39.

Richard J. H. , Smith M.D. (personal communication).

Leon P.E. , King M.C. Gene mapped for inherited hearing impairment. Science News 1991; 140(16): 253.

Kimberling W.J. , Weston M.D. , Moller C. Localization of Usher syndrome type II to chromosome «. Genomics 1990; 7(2): 245–9.

Johnson T. , Larsen C. , Friis J. Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients. J of Laryngol Otol 1987; 101: 1187–92.

Keating M. , Atkinson D. , Dunn C. Linkage of cardiac arrythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 1991; 252: 704–6.

Schwartz P.J. , Periti M. , Malliani A. The long Q-T syndrome. American Heart Journal 1975; 89: 378–90.

Barker D.E. , Hostikka S.L. , Zhou J. Identification of mutations in the COL 4A5 collagen gene in Alport syndrome. Science 1990; 248: 1224–7.

Nance W.E. , Setleff R.C. , McLeod A. X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects 1971; 7(4): 64–9.

Bento R.F. , Miniti A. X-linked mixed hearing impairment: four case studies. Laryngoscope 1985; 95: 462–8.

Bach I. , Brunner H.G. , Beighton P. Microdeletions in patients with gusher-associated X-linked mixed deafness. Am J Hum Genet 1992; 50: 38–44.