Familial isolated unilateral large vestibular aqueduct syndrome

ORL

Volumn 65, Issue 1, 2003, Pages 45-48

  Ramírez Camacho, Rafael ^a   García Berrocal, José Ramón ^a   Arellano, Beatriz ^a   Trinidad, Almudena ^a  

^a HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

Author keywords

Familial presentation; Large vestibular aqueduct syndrome; Pendred's syndrome; Unilateral hearing loss

Indexed keywords

CONNEXIN 26; MITOCHONDRIAL RNA;

ADOLESCENT; ADULT; ARTICLE; AUDIOGRAPHY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; INNER EAR MALFORMATION; LABORATORY TEST; PATHOGENESIS; PENDRED SYNDROME; PERCEPTION DEAFNESS; PRIORITY JOURNAL; VESTIBULE AQUEDUCT;

ADOLESCENT; ADULT; AUDIOMETRY, PURE-TONE; CONNEXINS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MAGNETIC RESONANCE IMAGING; PEDIGREE; SPEECH PERCEPTION; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED; VESTIBULAR AQUEDUCT; VESTIBULAR DISEASES;

EID: 0037219560     PISSN: 03011569     EISSN: None     Source Type: Journal    
DOI: 10.1159/000068663     Document Type: Article

References (12)

1. Valvassori GE, Clemis JD: The large vestibular aqueduct syndrome. Laryngoscope 1978;88:723-728.
2. Maffee MF, Charlett AD, Kumar A, Belmont H: Large vestibular aqueduct and congenital sensorineural hearing loss. Am J Neuroradiol 1992;13:805-819.
3. Gloddek B, Arnold W: The endolymphatic sac received antigenic information from the organs of the mucosa-associated lymphatic system. Acta Otolaryngol (Stockh) 1998;118:333-336.
4. García Berrocal JR, Ramírez-Camacho R: Immunology and immunopathology of the inner ear: An update. J Laryngol Otol 2000;114:101-107.
5. Qvortrup K, Rostgaard DJ, Holstein-Rathlou H-H: The inner ear produces a natruretic hormone. Am J Physiol 1999;270 (Renal Fluid Electrolyte Physiol 39): F1073-1077.
6. Novak KC, Messner AH: Isolated large vestibular aqueduct syndrome in a family. Ann Otol Rhinol Laryngol 2000;109:40-44.
7. Jacker RK, De La Cruz A: The large vestibular aqueduct syndrome. Laryngoscope 1989;99:1238-1243.
8. Tong KA, Harnsberger HR, Dahlen RT, Carey JC, Ward K: Large vestibular aqueduct syndrome: A genetic disease? AJR Am J Roentgenol 1997;168:1097-1101.
9. Irving RM, Jackler RK: Large vestibular aqueduct syndrome. Curr Opin Otolaryngol Head Neck Surg 1997;5:267-271.
10. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxeranis AD, Sheffield VC, Green ED: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-422.
11. Li XC, Everett LA, Lalwani AK Desnukh D, Friedman TB, Green ED, Wilcox ER: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215-217.
12. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ: Pendred syndrome, DFNB4 and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlation. Hum Mutat 2001;17:403-411.