Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features
Tóm tắt
Từ khóa
Tài liệu tham khảo
Jackler, 1989, The large vestibular aqueduct syndrome, Laryngoscope, 99, 1238, 10.1288/00005537-198912000-00006
Levenson, 1989, The large vestibular aqueduct syndrome in children, Arch Otolaryngol Head Neck Surg, 115, 54, 10.1001/archotol.1989.01860250056026
Irving, 1997, Large vestibular aqueduct syndrome, Curr Opin Otolaryngol Head Neck Surg, 5, 267, 10.1097/00020840-199710000-00001
Tong, 1997, Large vestibular aqueduct syndrome: a genetic disease?, AJR Am J Roentgenol, 168, 1097, 10.2214/ajr.168.4.9124122
Abe, 1997, Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct, Ann Otol Rhinol Laryngol, 106, 1063, 10.1177/000348949710601210
Walsh, 1999, Large vestibular aqueduct syndrome, ORL J Otorhinolaryngol Relat Spec, 61, 41, 10.1159/000027637
Nowak, 2000, Isolated large vestibular aqueduct syndrome in a family, Ann Otol Rhinol Laryngol, 109, 40, 10.1177/000348940010900107
Satoh, 1999, Four cases of familial hearing loss with large vestibular aqueducts, Eur Arch Otorhinolaryngol, 256, 83, 10.1007/s004050050121
Govaerts, 1999, Audiological findings in large vestibular aqueduct syndrome, Int J Pediatr Otorhinolaryngol, 51, 157, 10.1016/S0165-5876(99)00268-2
Okumura, 1995, Sensorineural hearing loss in patients with large vestibular aqueduct, Laryngoscope, 105, 289, 10.1288/00005537-199503000-00012
Belenky, 1993, The enlarged vestibular aqueduct syndrome (EVA syndrome), Ear Nose Throat J, 72, 746, 10.1177/014556139307201113
Puls, 1997, Large vestibular aqueduct syndrome with mixed hearing loss: a case report, Acta Otorhinolaryngol Belg, 51, 185
Callison, 1998, Large vestibular aqueduct syndrome: an overlooked etiology for progressive childhood hearing loss, J Am Acad Audiol, 9, 285
Emmet, 1985, The large vestibular aqueduct syndrome, Am J Otolaryngol, 6, 387
Valvassori, 1978, The large vestibular aqueduct syndrome, Laryngoscope, 88, 723, 10.1002/lary.1978.88.5.723
Abe, 1999, Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene, Am J Med Genet, 82, 322, 10.1002/(SICI)1096-8628(19990212)82:4<322::AID-AJMG9>3.0.CO;2-0
Cremers, 1998, Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome, Arch Otolaryngol Head Neck Surg, 124, 501, 10.1001/archotol.124.5.501
Phelps, 1997, Large endolymphatic sac. A congenital deformity of the inner ear shown by magnetic resonance imaging, J Laryngol Otol, 111, 754, 10.1017/S0022215100138538
Fugazzola, 2000, Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome, J Clin Endocrinol Metab, 85, 2469, 10.1210/jc.85.7.2469
Scott, 2000, Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4), Hum Mol Genet, 9, 1709, 10.1093/hmg/9.11.1709
Stinckens, 2001, The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study, Int J Pediatr Otorhinolaryngol, 59, 163, 10.1016/S0165-5876(01)00473-6
Berrettini, 2002, Distal renal tubular acidosis associated with isolated large vestibular aqueduct and sensorineural hearing loss, Ann Otol Rhinol Laryngol, 111, 385, 10.1177/000348940211100501
Griffith, 1996, Familial large vestibular aqueduct syndrome, Laryngoscope, 106, 960, 10.1097/00005537-199608000-00009
Sheffield, 1996, Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification, Nat Genet, 12, 424, 10.1038/ng0496-424
Coyle, 1996, Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4, Nat Genet, 12, 421, 10.1038/ng0496-421
Everett, 1997, Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS), Nat Genet, 17, 411, 10.1038/ng1297-411
Usami, 1999, Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations, Hum Genet, 104, 188, 10.1007/s004390050933
Stephens, 2001, Audiological terms, 9
Fitzgerald, 1942, Studies in the human vestibular function: observations on the directional preponderance of caloric nystagmus resulting from cerebral lesions, Brain, 65, 115, 10.1093/brain/65.2.115
Neri, 2000, High-resolution magnetic resonance and volume rendering of the labyrinth, Eur Radiol, 10, 114, 10.1007/s003300050015
Bogazzi, 2000, A novel mutation in the pendrin gene associated with Pendred's syndrome, Clin Endocrinol, 52, 279, 10.1046/j.1365-2265.2000.00930.x
Bogazzi, 2004, Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct, J Endocrinol Invest, 27, 430, 10.1007/BF03345286
Lopez-Bigas, 1999, Splice-site mutation in PDS gene may result in intrafamilial variability for deafness in Pendred syndrome, Hum Mutat, 14, 520, 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K
Jackler, 1987, Congenital malformations of the inner ear: a classification based on embryogenesis, Laryngoscope, 97, 2
Mondini, 1791, Caroli Mundini Anatomica surdi nati sectio, De bononiensi scientiarum et artium. Instituto atque Academia commentarii, 419
Reussner, 1995, Large vestibular aqueduct syndrome with massive endolymphatic sacs, Otolaryngol Head Neck Surg, 113, 606, 10.1177/019459989511300513
Yetiser, 1999, Vestibular disturbance in patients with large vestibular aqueduct syndrome (LVAS), Acta Otolaryngol (Stockh), 119, 641, 10.1080/00016489950180568
Aschendorff, 1997, Large vestibular aqueduct syndrome and its implication for cochlear implant surgery, Am J Otolaryngol, 18, S57
Au, 1999, Cochlear implantation in children with large vestibular aqueduct syndrome, Am J Otolaryngol, 20, 183
Bent, 1999, Cochlear implantation in children with enlarged vestibular aqueducts, Laryngoscope, 109, 1019, 10.1097/00005537-199907000-00001
Miyamoto, 2002, Cochlear implantation with large vestibular aqueduct syndrome, Laryngoscope, 112, 1178, 10.1097/00005537-200207000-00006
Bichey, 2002, Changes in quality of life and the cost-utility associated with cochlear implantation in patients with large vestibular aqueduct syndrome, Otol Neurotol, 23, 323, 10.1097/00129492-200205000-00016
Vescan, 2002, Cochlear implantation and Pendred's syndrome mutation in monozygotic twins with large vestibular aqueduct syndrome, J Otolaryngol, 31, 54, 10.2310/7070.2002.19332
Dahlen, 1997, Overlapping thin section fast spin echo MR of the large vestibular aqueduct syndrome: comparison with CT, Am J Neuroradiol, 18, 67
Schessel, 1992, Presentation of large vestibular aqueduct syndrome to a dizziness unit, J Otolaryngol, 21, 265
Okumura, 1995, Vestibular function in patients with large vestibular aqueduct, Acta Otolaryngol (Stockh) Suppl, 520, 323, 10.3109/00016489509125262
Harnsberger, 1995, Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome, Laryngoscope, 105, 1037, 10.1288/00005537-199510000-00005
Okamoto, 1997, Large vestibular aqueduct syndrome with high CT density and high MR signal intensity, Am J Neroradiol, 18, 482
Mafee, 1982, Large vestibular aqueduct and congenital sensorineural hearing loss, Am J Neuroradiol, 13, 805
Schroeder, 2000, Large vestibular aqueduct syndrome, Am J Otolaryngol, 21, 433, 10.1016/S0196-0709(00)80056-3
Okamoto, 1998, MRI of enlarged endolymphatic sacs in the large vestibular aqueduct syndrome, Neuroradiology, 40, 167, 10.1007/s002340050561
Naganawa, 2002, Serial MR imaging studies in enlarged endolymphatic duct and sac syndrome, Eur Radiol, 12, S114, 10.1007/s00330-002-1525-9
Chen, 1995, Phenotypic manifestations of branchiootorenal syndrome, Am J Med Genet, 58, 365, 10.1002/ajmg.1320580413
Karet, 1999, Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness, Nat Genet, 21, 84, 10.1038/5022
Cremers, 1998, Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome, Int J Pediatr Otorhinolaryngol, 45, 113, 10.1016/S0165-5876(98)00123-2
Reardon, 1997, Pendred syndrome—100 years of underascertainment?, Q J Med, 90, 443, 10.1093/qjmed/90.7.443
Reardon, 1999, Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome, J Med Genet, 36, 595
Iwasaki, 2001, Long-term audiological feature in Pendred syndrome caused by PDS mutation, Arch Otolaryngol Head Neck Surg, 127, 705, 10.1001/archotol.127.6.705
Reardon, 2000, Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene, Q J Med, 93, 99, 10.1093/qjmed/93.2.99
Masmoudi, 2000, Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation, Am J Med Genet, 90, 38, 10.1002/(SICI)1096-8628(20000103)90:1<38::AID-AJMG8>3.0.CO;2-R
Fujita, 1996, Three-dimensional course of the vestibular aqueduct, Eur Arch Otorhinolaryngol, 253, 122, 10.1007/BF00615107
Greinwald, 1998, Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31, Am J Med Genet, 78, 107, 10.1002/(SICI)1096-8628(19980630)78:2<107::AID-AJMG2>3.0.CO;2-L
Li, 1998, A mutation in PDS causes nonsyndromic recessive deafness, Nat Genet, 18, 215, 10.1038/ng0398-215
Ishinaga, 2002, Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by Pds gene mutation, Head Neck, 24, 710, 10.1002/hed.10081
Lopez-Bigas, 2001, Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment, Hum Mutat, 16, 1
Kitamura, 2000, Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct, Acta Otolaryngol, 120, 137, 10.1080/000164800750000775
Royaux, 2000, Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells, Endocrinology, 141, 839, 10.1210/en.141.2.839
Everett, 1999, Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear, Proc Natl Acad Sci U S A, 96, 9727, 10.1073/pnas.96.17.9727