Hypoparathyroidism in combination with sensorineural deafness;Hypoparathyreoidismus und Innenohrschwerhorigkeit

Monatsschrift fur Kinderheilkunde

Volumn 145, Issue 4, 1997, Pages 347-352

  Beetz, R ^a   Zorowka, P ^b   Schonberger W ^a   Kruse, K ^c   Wilichowski, E ^d   Zabel, B ^a   Mannhardt, W ^a   Schumacher, R ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c Univ Kinderklinik Lübeck   (Germany)

^d UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

deafness; hypoparathyroidism; renal dysplasia

Indexed keywords

ARTICLE; CASE REPORT; CHILD; HUMAN; HYPOPARATHYROIDISM; KEARNS SAYRE SYNDROME; KIDNEY DYSPLASIA; MALE; PERCEPTION DEAFNESS;

EID: 0030993208     PISSN: 00269298     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001120050131     Document Type: Article

References (23)

1. Ashmore JF, Meech RW (1986) Ionic basis of membrane potential in outer hair cells of guinea pig cochlea. Nature 322: 368-371
2. Barakat AY, DÁlbora JB, Martin MM, Jose PA (1977) Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediatr 91: 61-64
3. Bilous RW, Kurty G, Parkinson DB, Thakker V, Coulthard MG, Burn J, Mathias D, Kendall-Taylor P (1992) Brief report: autosomal dominant familial hypoparathyreoidism, sensorineural deafness, and renal dysplasia. N Engl J Med 327: 1069-1074
4. Crawfort A, Evans MG, Fettiplace R (1991) The actions of calcium on the mechano-electrical transducer current of turtle hair cells. J Physiol 434: 369-398
5. Dahlberg PJ, Borer WZ, Newcomer KL, Yutuc WR (1983) Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve and brachytelephalangy. Am J Med Genet 16: 99-104
6. Flock A, Flock M, Ulfendahl M (1986) Mechanism of movement in outer hair cells and a possible structural basis. Arch Otorhinolaryngol 243: 83-90
7. Gitter AH, Zenner HP, Frömter E (1986) Membrane potential and ion channels in isolated cells of guinea pig cochlea. ORL J Otorhinolaryngol Relat Spec 48: 68-75
8. Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719
9. Ikeda K, Kobayashi T, Kusakan J, Yumita S, Furukawa Y (1987) Sensorineural hearing loss associated with hypoparalhyroidism. Laryngoscope 97: 1075-1079
10. Koenig R, Kessel E, Schoenberger W, Partial monosomy 10p syndrome. Ann Genet 28: 173-176
11. Koenig R, Beetz R (1987) Hypoparathyroidism with partial monosomy 10 p. J Pediatr 111: 310
12. Kruse K (1988) Hypoarathyreoidismus and Pseudohypoparathyreoidismus Neue Aspekte in der Pathogenese, Diagnose und Therapie. Monatsschr. Kinderheilkd 136: 652-666
13. Kruse K, Kracht U (1987) A simplified diagnostic test in hypoparathyroidism and pseudohypoparathyroidism type I with synthetic 1-38 fragment of human parathyroid hormone. Eur J Pediatr 146: 373-377
14. Naylor SL, Sakaguchi AY, Szoka P et al. (1983) Human parathyroid hormone gene (PTH) is on short arm of chromosome 11. Somatic Cell Mol Genet 9: 609-616
15. Petty RKH, Harding HE, Morgan-Hughes JA (1986) The clinical features of mitochondrial myopathy. Brain 109: 915-938
16. Poulton J, Deadman ME, Ramacharan S, Gardiner RM (1991) Germline deletions of mtDNA in mitochondrial myopathy. Am J Hum Genet 48: 649-653
17. Robertson C, Aldridge S, Jarman F, Saunders K, Poulakis Z, Oberklaid F (1995) Late diagnosis of congenital senorineural hearing impairment: why are detection methods failing? Arch Dis Child 72: 11-15
18. Shaw NJ, Haigh D, Lealmann GT, Karbani G, Brocklebank JT, Dillon MJ (1991) Autosomal recessive hypoparathyreoidism with renal insufficiency and developmental delay. Arch Dis Child 66: 1191-1194
19. Stennert F (1979) Bell's palsy - a new concept of treatment. Arch Otorhinolaryngol 225: 265-269
20. Yumita S, Furukawa Y, Sohn HE, Unakami H, Miura R, Yoshinaga K (1986) Familial idiopathic hypoparathyroidism and progressive sensorineural deafness. Tohoku J Exp Med 148: 135-141
21. Zenner HP (1986) Motile responses in outer hair cells. Hear Res 22: 83-90
22. Zenner HP (1988) Motility of outer hair cells as an active actin mediated process. Acta Otolaryngol (Stockh) 105: 39-44
23. Zorowka P, Heinemann M, Kraft E (1991) Medikamentöse Therapie progredienter kindlicher Hörstörungen. Laryngorhinootologie 70: 312-315