Temporal Kemiğin Konjenital Anomalileri
Özet
Referanslar
Klockars T, Rautio J. Embryology and epidemiology of microtia. Facial Plast Surg. 2009 Aug;25(3):145-8.
Wu J, Zhang R, Zhang Q, et al. Epidemiological analysis of microtia: a retrospective study in 345 patients in China. Int J Pediatr Otorhinolaryngol. 2010 Mar;74(3):275-8.
Genc S, Kahraman E, Ozel HE, et al. Microtia and congenital aural atresia. J Craniofac Surg. 2012 Nov;23(6):1733-5.
Paput L, Bánhidy F, Czeizel AE. Distribution of associated component abnormalities in cases with unclassified multiple ("syndromic") anota/microtia. Int J Pediatr Otorhinolaryngol. 2011 May;75(5):639-47.
Suutarla S, Rautio J, Ritvanen A, et al. Microtia in Finland: Comparison of characteristics in different populations. Int J Pediatr Otorhinolaryngol. 2007 Aug;71(8):1211-7.
Zhang TY, Bulstrode N, Chang KW, et al. International consensus recommendations on microtia, aural atresia and functional ear reconstruction. J Int Adv Otol. 2019 Aug;15(2):204-208.
Tahiri Y, Reinisch J. Porous polyethylene ear reconstruction. Clin Plast Surg. 2019 Apr;46(2):223-230.
Casale G, Nicholas BD, Kesser BW. Acquired ear canal cholesteatoma in congenital aural atresia/stenosis. Otol Neurotol. 2014; 35: 1474-9.
Yin D, Li C, Juan H, et al. Morphological characteristics of osseous external auditory canal and its relationship with external auditory canal cholesteatoma in patients with congenital aural stenosis. Otol Neurotol. 2017; 38: 1528-34.
Zhang L, Gao N, Yin Y, et al. Bone conduction hearing in congenital aural atresia. Eur Arch Otorhinolaryngol. 2016 Jul;273(7):1697-703.
Totten DJ, Marinelli JP, Carlson ML. Incidence of congenital stapes footplate fixation since 1970: a population-based study. Otol Neurotol. 2020;41(4):489-493.
Cremers CWRJ, Teunissen E. The impact of a syndromal diagnosis on surgery for congenital minor ear anomalies. Int J Pediatr Otorhinolaryngol. 1991;22(1):59-74.
Teunissen EB, Cremers WR. Classification of congenital middle ear anomalies. Report on 144 ears. Ann Otol Rhinol Laryngol. 1993 Aug;102(8 Pt 1):606-12.
Sennaroğlu L, Bajin MD, Atay G, et al. Oval window atresia: a novel surgical approach and pathognomonic radiological finding. Int J Pediatr Otorhinolaryngol. 2014 May;78(5):769-76.
Pappas DG Jr, Pappas DG Sr, Hedlin G. Round window atresia in association with congenital stapes fixation. Laryngoscope. 1998; 108(8 Pt 1):1115-1118.
Borrmann A, Arnold W. Non-syndromal round window atresia: an autosomal dominant genetic disorder with variable penetrance? Eur Arch Otorhinolaryngol. 2007;264(9):1103-1108.
Wong WK, Salkeld L, Flint D. Isolated congenital round window atresia: Report of 2 cases. Ear Nose Throat J. 2020 Aug;99(7):433-436.
Sennaroğlu L, Bajin MD. Classification and current management of inner ear malformations. Balkan Med J. 2017 Sep 29;34(5):397-411.
Phelps PD, King A, Michaels L. Cochlear dysplasia and meningitis. Am J Otol. 1994;15:551–7.
Sennaroglu L, Colletti V, Manrique M, et al. Auditory brainstem implantation in children and non-neurofibromatosis type 2 patients: A consensus statement. Otol Neurotol. 2011 Feb;32(2):187-91.
Sennaroglu L. Histopathology of inner ear malformations: Do we have enough evidence to explain pathophysiology? Cochlear Implants Int. 2016;17(1):3-20.
Sennaroglu L, Saatci I. A new classification for cochleovestibular malformations. Laryngoscope 2002; 112:2230–41.
Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol. 1998 Apr;53(4):268-73.
Nance WE, Setleff R, McLeod A, et al. X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser 1971;7:64-9.
Phelps PD, Reardon W, Pembrey M, et al. X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 1991;33:326-30.
Sennaroglu L, Sarac S, Ergin T. Surgical results of cochlear implantation in malformed cochlea. Otol Neurotol. 2006;27:615-23.
Casselman JW, Offeciers EF, De Foer B, et al. CT and MR imaging of congential abnormalities of the inner ear and internal auditory canal. Eur J Radiol. 2001 Nov;40(2):94-104.
Okuno T, Takahashi H, Shibahara Y, et al. Temporal bone histopathologic findings in Alagille’s syndrome. Arch Otolaryngol Head Neck Surg. 1990 Feb;116(2):217-20.
Propst EJ, Blaser S, Gordon KA, et al. Temporal bone findings on computed tomography imaging in branchio–oto–renal syndrome. Laryngoscope 2005;115:1855–62.
Phelps PD, Annis JA, Robinson PJ. Imaging for cochlear implants. Br J Radiol. 1990;63:512–6.
Casselman JW, Offeciers FE, Govaerts PJ, et al. Aplasia and hypoplasia of the vestibulocochlear nerve: diagnosis with MR imaging. Radiology 1997;202:773–81.
Chang EH, Menezes M, Meyer NC, et al. Branchio-otorenal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 2004;23:582–9.
D’Arco F, Talenti G, Lakshmanan R, et al. Do measurements of inner ear structures help in the diagnosis of inner ear malformations? A review of literature. Otol Neurotol. 2017;38(10):e384–92.
Ceruti S, Stinckens C, Cremers CWRJ, et al. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. Otol Neurotol. 2002;23:200–7.
Ostri B, Johnsen T, Bergmann I. Temporal bone findings in a family with branchio-oto-renal syndrome (BOR). Clin Otolaryngol Allied Sci. 1991;16:163–7.
Hsu P, Ma A, Wilson M, et al. CHARGE syndrome: A review. J Paediatr Child Health. 2014 Jul;50(7):504–11.
Ha J, Ong F, Wood B, et al. Radiologic and audiologic findings in the temporal bone of patients with CHARGE syndrome. Ochsner J. 2016;16(2):125–9.
Kontorinis G, Lenarz T, Giourgas A, et al. Outcomes and special considerations of cochlear implantation in waardenburg syndrome. Otol Neurotol. 2011 Aug;32(6):951–5.
Cullen RD, Zdanski C, Roush P, et al. Cochlear implants in Waardenburg syndrome. Laryngoscope. 2006 Jul;116(7):1273–5.
Oysu C, Oysu A, Aslan I, et al. Temporal bone imaging findings in Waardenburg’s syndrome. Int J Pediatr Otorhinolaryngol. 2001 May 11;58(3):215–21.
Madden C, Halsted MJ, Hopkin RJ, et al. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope. 2003 Nov;113(11):2035–41.
Roizen NJ, Patterson D. Down’s syndrome. Lancet. 2003 Apr 12;361(9365):1281–9.
Blaser S, Propst EJ, Martin D, et al. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006 Dec;116(12):2113–9.
Intrapiromkul J, Aygun N, Tunkel DE, et al. Inner ear anomalies seen on CT images in people with Down syndrome. Pediatr Radiol. 2012 Dec;42(12):1449-55.
D'Arco F, Youssef A, Ioannidou E, et al. Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide. Eur J Radiol. 2020 Feb;123:108803.
Verheij E, Elden L, Crowley TB, et al. Anatomic malformations of the middle and inner ear in 22q11.2 deletion syndrome: case series and literature review. AJNR Am J Neuroradiol. 2018 Mar 15;39(5):928–34.
Bisdas S, Lenarz M, Lenarz T, et al. Inner ear abnormalities in patients with Goldenhar syndrome. Otol Neurotol. 2005 May;26(3):398–404.
Hennersdorf F, Friese N, Löwenheim H, et al. Temporal bone changes in patients with Goldenhar syndrome with special emphasis on inner ear abnormalities. Otol Neurotol. 2014 Jun;35(5):826–30.
Rooryck C, Diaz-Font A, Osborn DPS, et al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011 Mar;43(3):197–203.
Atik T, Koparir A, Bademci G, et al. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015 Sep 30;10:128.
Talenti G, Pinelli L, Davies B,et al. Petrous bone CT findings in patient with 3MC syndrome. Otol Neurotol. 2018;39:e743–5.
Gruen PM, Carranza A, Karmody CS, et al. Anomalies of the ear in the Pierre Robin triad. Ann Otol Rhinol Laryngol. 2005;114:605–13.
Rosa F, Coutinho MB, Ferreira JP, et al. Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. Acta Otorrinolaringol Esp. 2016;67:142–7.
Referanslar
Klockars T, Rautio J. Embryology and epidemiology of microtia. Facial Plast Surg. 2009 Aug;25(3):145-8.
Wu J, Zhang R, Zhang Q, et al. Epidemiological analysis of microtia: a retrospective study in 345 patients in China. Int J Pediatr Otorhinolaryngol. 2010 Mar;74(3):275-8.
Genc S, Kahraman E, Ozel HE, et al. Microtia and congenital aural atresia. J Craniofac Surg. 2012 Nov;23(6):1733-5.
Paput L, Bánhidy F, Czeizel AE. Distribution of associated component abnormalities in cases with unclassified multiple ("syndromic") anota/microtia. Int J Pediatr Otorhinolaryngol. 2011 May;75(5):639-47.
Suutarla S, Rautio J, Ritvanen A, et al. Microtia in Finland: Comparison of characteristics in different populations. Int J Pediatr Otorhinolaryngol. 2007 Aug;71(8):1211-7.
Zhang TY, Bulstrode N, Chang KW, et al. International consensus recommendations on microtia, aural atresia and functional ear reconstruction. J Int Adv Otol. 2019 Aug;15(2):204-208.
Tahiri Y, Reinisch J. Porous polyethylene ear reconstruction. Clin Plast Surg. 2019 Apr;46(2):223-230.
Casale G, Nicholas BD, Kesser BW. Acquired ear canal cholesteatoma in congenital aural atresia/stenosis. Otol Neurotol. 2014; 35: 1474-9.
Yin D, Li C, Juan H, et al. Morphological characteristics of osseous external auditory canal and its relationship with external auditory canal cholesteatoma in patients with congenital aural stenosis. Otol Neurotol. 2017; 38: 1528-34.
Zhang L, Gao N, Yin Y, et al. Bone conduction hearing in congenital aural atresia. Eur Arch Otorhinolaryngol. 2016 Jul;273(7):1697-703.
Totten DJ, Marinelli JP, Carlson ML. Incidence of congenital stapes footplate fixation since 1970: a population-based study. Otol Neurotol. 2020;41(4):489-493.
Cremers CWRJ, Teunissen E. The impact of a syndromal diagnosis on surgery for congenital minor ear anomalies. Int J Pediatr Otorhinolaryngol. 1991;22(1):59-74.
Teunissen EB, Cremers WR. Classification of congenital middle ear anomalies. Report on 144 ears. Ann Otol Rhinol Laryngol. 1993 Aug;102(8 Pt 1):606-12.
Sennaroğlu L, Bajin MD, Atay G, et al. Oval window atresia: a novel surgical approach and pathognomonic radiological finding. Int J Pediatr Otorhinolaryngol. 2014 May;78(5):769-76.
Pappas DG Jr, Pappas DG Sr, Hedlin G. Round window atresia in association with congenital stapes fixation. Laryngoscope. 1998; 108(8 Pt 1):1115-1118.
Borrmann A, Arnold W. Non-syndromal round window atresia: an autosomal dominant genetic disorder with variable penetrance? Eur Arch Otorhinolaryngol. 2007;264(9):1103-1108.
Wong WK, Salkeld L, Flint D. Isolated congenital round window atresia: Report of 2 cases. Ear Nose Throat J. 2020 Aug;99(7):433-436.
Sennaroğlu L, Bajin MD. Classification and current management of inner ear malformations. Balkan Med J. 2017 Sep 29;34(5):397-411.
Phelps PD, King A, Michaels L. Cochlear dysplasia and meningitis. Am J Otol. 1994;15:551–7.
Sennaroglu L, Colletti V, Manrique M, et al. Auditory brainstem implantation in children and non-neurofibromatosis type 2 patients: A consensus statement. Otol Neurotol. 2011 Feb;32(2):187-91.
Sennaroglu L. Histopathology of inner ear malformations: Do we have enough evidence to explain pathophysiology? Cochlear Implants Int. 2016;17(1):3-20.
Sennaroglu L, Saatci I. A new classification for cochleovestibular malformations. Laryngoscope 2002; 112:2230–41.
Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol. 1998 Apr;53(4):268-73.
Nance WE, Setleff R, McLeod A, et al. X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser 1971;7:64-9.
Phelps PD, Reardon W, Pembrey M, et al. X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 1991;33:326-30.
Sennaroglu L, Sarac S, Ergin T. Surgical results of cochlear implantation in malformed cochlea. Otol Neurotol. 2006;27:615-23.
Casselman JW, Offeciers EF, De Foer B, et al. CT and MR imaging of congential abnormalities of the inner ear and internal auditory canal. Eur J Radiol. 2001 Nov;40(2):94-104.
Okuno T, Takahashi H, Shibahara Y, et al. Temporal bone histopathologic findings in Alagille’s syndrome. Arch Otolaryngol Head Neck Surg. 1990 Feb;116(2):217-20.
Propst EJ, Blaser S, Gordon KA, et al. Temporal bone findings on computed tomography imaging in branchio–oto–renal syndrome. Laryngoscope 2005;115:1855–62.
Phelps PD, Annis JA, Robinson PJ. Imaging for cochlear implants. Br J Radiol. 1990;63:512–6.
Casselman JW, Offeciers FE, Govaerts PJ, et al. Aplasia and hypoplasia of the vestibulocochlear nerve: diagnosis with MR imaging. Radiology 1997;202:773–81.
Chang EH, Menezes M, Meyer NC, et al. Branchio-otorenal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 2004;23:582–9.
D’Arco F, Talenti G, Lakshmanan R, et al. Do measurements of inner ear structures help in the diagnosis of inner ear malformations? A review of literature. Otol Neurotol. 2017;38(10):e384–92.
Ceruti S, Stinckens C, Cremers CWRJ, et al. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. Otol Neurotol. 2002;23:200–7.
Ostri B, Johnsen T, Bergmann I. Temporal bone findings in a family with branchio-oto-renal syndrome (BOR). Clin Otolaryngol Allied Sci. 1991;16:163–7.
Hsu P, Ma A, Wilson M, et al. CHARGE syndrome: A review. J Paediatr Child Health. 2014 Jul;50(7):504–11.
Ha J, Ong F, Wood B, et al. Radiologic and audiologic findings in the temporal bone of patients with CHARGE syndrome. Ochsner J. 2016;16(2):125–9.
Kontorinis G, Lenarz T, Giourgas A, et al. Outcomes and special considerations of cochlear implantation in waardenburg syndrome. Otol Neurotol. 2011 Aug;32(6):951–5.
Cullen RD, Zdanski C, Roush P, et al. Cochlear implants in Waardenburg syndrome. Laryngoscope. 2006 Jul;116(7):1273–5.
Oysu C, Oysu A, Aslan I, et al. Temporal bone imaging findings in Waardenburg’s syndrome. Int J Pediatr Otorhinolaryngol. 2001 May 11;58(3):215–21.
Madden C, Halsted MJ, Hopkin RJ, et al. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope. 2003 Nov;113(11):2035–41.
Roizen NJ, Patterson D. Down’s syndrome. Lancet. 2003 Apr 12;361(9365):1281–9.
Blaser S, Propst EJ, Martin D, et al. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006 Dec;116(12):2113–9.
Intrapiromkul J, Aygun N, Tunkel DE, et al. Inner ear anomalies seen on CT images in people with Down syndrome. Pediatr Radiol. 2012 Dec;42(12):1449-55.
D'Arco F, Youssef A, Ioannidou E, et al. Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide. Eur J Radiol. 2020 Feb;123:108803.
Verheij E, Elden L, Crowley TB, et al. Anatomic malformations of the middle and inner ear in 22q11.2 deletion syndrome: case series and literature review. AJNR Am J Neuroradiol. 2018 Mar 15;39(5):928–34.
Bisdas S, Lenarz M, Lenarz T, et al. Inner ear abnormalities in patients with Goldenhar syndrome. Otol Neurotol. 2005 May;26(3):398–404.
Hennersdorf F, Friese N, Löwenheim H, et al. Temporal bone changes in patients with Goldenhar syndrome with special emphasis on inner ear abnormalities. Otol Neurotol. 2014 Jun;35(5):826–30.
Rooryck C, Diaz-Font A, Osborn DPS, et al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011 Mar;43(3):197–203.
Atik T, Koparir A, Bademci G, et al. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015 Sep 30;10:128.
Talenti G, Pinelli L, Davies B,et al. Petrous bone CT findings in patient with 3MC syndrome. Otol Neurotol. 2018;39:e743–5.
Gruen PM, Carranza A, Karmody CS, et al. Anomalies of the ear in the Pierre Robin triad. Ann Otol Rhinol Laryngol. 2005;114:605–13.
Rosa F, Coutinho MB, Ferreira JP, et al. Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. Acta Otorrinolaringol Esp. 2016;67:142–7.