Congenital Malformations of the Ear



Malformations affecting the ear encompass a wide spectrum of clinical entities. Interestingly, 50 % of all congenital malformations of the head and neck involve the ear. These malformations may present themselves as cosmetic and/or functional defects and can occur in isolation or as part of a constellation of features that define various associations and syndromes. They can affect the outer, middle, and/or inner ear, frequently in combination. The embryologic development of the outer and middle ear differs from that of the inner ear; this is reflected in the clinical presentation of ear malformations and forms the basis for many of the classification systems employed in clinical practice. This chapter reviews the embryology of the ear as well as the diagnosis and management of the most common malformations.


Auricular atresia Microtia Congenital cholesteatoma Common cavity malformations Cochlear malformations 


  1. 1.
    De la cruz A, Hansen MR. Reconstruction surgery of the ear: auditory canal and tympanum. In: Cummings CW, Flint PW, Harker LA, et al., editors. Otolaryngology head and neck surgery. Philadelphia: Mosby; 2004. p. 4439–44.Google Scholar
  2. 2.
    Cunningham MJ, Aguilar E. Congenital auricular malformation. In: Johnson JT, Bailey BJ, Newlands SD, editors. Otolaryngology head and neck surgery. Philadelphia: Lippincott Williams and Wilkins; 2006. p. 2691–700.Google Scholar
  3. 3.
    Lee KJ. Essentials of otolaryngology. 5th ed. New York: McGraw-Hill; 2003.Google Scholar
  4. 4.
    Davis J. Otoplasty: aesthetic and reconstructive techniques. Berlin: Springer; 1987.Google Scholar
  5. 5.
    Beahm EK, Walton RL. Auricular reconstruction for microtia: part I. Anatomy, embryology, and clinical evaluation. Plast Reconstr Surg. 2002;109(7):2473–82.PubMedGoogle Scholar
  6. 6.
    Murakami CS, Quatela VC. Reconstruction surgery of the ear: microtia reconstruction. In: Cummings CW, Flint PW, Harker LA, et al., editors. Otolaryngology head and neck surgery. Philadelphia: Mosby; 2004. p. 4422–8.Google Scholar
  7. 7.
    Zim SA. Microtia reconstruction: an update. Curr Opin Otolaryngol Head Neck Surg. 2003;11(4):275–81.PubMedGoogle Scholar
  8. 8.
    Chami RG, Apesos J. Treatment of asymptomatic preauricular sinuses: challenging conventional wisdom. Ann Plast Surg. 1989;23(5):406–11.PubMedGoogle Scholar
  9. 9.
    Scheinfeld NS, Silverberg NB, Weinberg JM, et al. The preauricular sinus: a review of its clinical presentation, treatment, and associations. Pediatr Dermatol. 2004;21(3):191–6.PubMedGoogle Scholar
  10. 10.
    Huang XY, Tay GS, Wansaicheong GK, et al. Preauricular sinus: clinical course and associations. Arch Otolaryngol Head Neck Surg. 2007;133(1):65–8.PubMedGoogle Scholar
  11. 11.
    Meggyessy V, Mehes K. Preauricular pits in Hungary: epidemiologic and clinical observations. J Craniofac Genet Dev Biol. 1982;2(3):215–8.PubMedGoogle Scholar
  12. 12.
    Ewing MR. Congenital sinuses of the external ear. J Laryngol Otol. 1946;61:18–23.PubMedGoogle Scholar
  13. 13.
    Tsai FJ, Tsai CH. Birthmarks and congenital skin lesions in Chinese newborns. J Formos Med Assoc. 1993;92(9):838–41.PubMedGoogle Scholar
  14. 14.
    Leung AK, Robson WL. Association of preauricular sinuses and renal anomalies. Urology. 1992;40(3):259–61.PubMedGoogle Scholar
  15. 15.
    Smith PG, Dyches TJ, Loomis RA. Clinical aspects of the branchio-oto-renal syndrome. Otolaryngol Head Neck Surg. 1984;92(4):468–75.PubMedGoogle Scholar
  16. 16.
    Clementi M, Mammi I, Tenconi R. Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: branchio-oto-costal syndrome? Am J Med Genet. 1997;68(1):91–3.PubMedGoogle Scholar
  17. 17.
    Magenis RE, Sheehy RR, Brown MG, et al. Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis. Am J Med Genet. 1988;29(1):9–19.PubMedGoogle Scholar
  18. 18.
    Zelig S, Deutsch E, Eilon A. Waardenburg syndrome with associated multiple anomalies. ORL J Otorhinolaryngol Relat Spec. 1984;46(1):34–7.PubMedGoogle Scholar
  19. 19.
    Petersen MB, Hansen M, Djernes BW. Full trisomy 22 in a newborn infant. Ann Genet. 1987;30(2):101–4.PubMedGoogle Scholar
  20. 20.
    Lessick ML, Szego K, Wong PW. Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review. Clin Pediatr (Phila). 1988;27(9):451–4.Google Scholar
  21. 21.
    Wang RY, Earl DL, Ruder RO, et al. Syndromic ear anomalies and renal ultrasounds. Pediatrics. 2001;108(2):E32.PubMedGoogle Scholar
  22. 22.
    Firat Y, Sireci S, Yakinci C, et al. Isolated preauricular pits and tags: is it necessary to investigate renal abnormalities and hearing impairment? Eur Arch Otorhinolaryngol. 2008;265(9):1057–60.PubMedGoogle Scholar
  23. 23.
    Islam MA, Habib MA. Branchial cleft anomalies – a study of 20 cases. Bangladesh Med Res Counc Bull. 1995;21(3):104–7.PubMedGoogle Scholar
  24. 24.
    Rodriguez SJ. Branchio-oto-renal syndrome. J Nephrol. 2003;16(4):603–5.Google Scholar
  25. 25.
    Izzedine H, Tankere F, Launay-Vacher V, et al. Ear and kidney syndromes: molecular versus clinical approach. Kidney Int. 2004;65(2):369–85.PubMedGoogle Scholar
  26. 26.
    Kugelman A, Tubi A, Bader D, et al. Pre-auricular tags and pits in the newborn: the role of renal ultrasonography. J Pediatr. 2002;141(3):388–91.PubMedGoogle Scholar
  27. 27.
    O'Mara W, Guarisco L. Management of the preauricular sinus. J La State Med Soc. 1999;151(9):447–50.PubMedGoogle Scholar
  28. 28.
    Tan T, Constantinides H, Mitchell TE. The preauricular sinus: a review of its aetiology, clinical presentation and management. Int J Pediatr Otorhinolaryngol. 2005;69(11):1469–74.PubMedGoogle Scholar
  29. 29.
    Emery PJ, Salama NY. Congenital pre-auricular sinus. A study of 31 cases seen over a ten year period. Int J Pediatr Otorhinolaryngol. 1981;3(3):205–12.PubMedGoogle Scholar
  30. 30.
    Kugelman A, Hadad B, Ben-David J, et al. Preauricular tags and pits in the newborn: the role of hearing tests. Acta Paediatr. 1997;86(2):170–2.PubMedGoogle Scholar
  31. 31.
    Zou F, Peng Y, Wang X, et al. A locus for congenital preauricular fistula maps to chromosome 8q11.1-q13.3. J Hum Genet. 2003;48(3):155–8.PubMedGoogle Scholar
  32. 32.
    Coatesworth AP, Patmore H, Jose J. Management of an infected preauricular sinus, using a lacrimal probe. J Laryngol Otol. 2003;117(12):983–4.PubMedGoogle Scholar
  33. 33.
    Currie AR, King WW, Vlantis AC, et al. Pitfalls in the management of preauricular sinuses. Br J Surg. 1996;83(12):1722–4.PubMedGoogle Scholar
  34. 34.
    Prasad S, Grundfast K, Milmoe G. Management of congenital preauricular pit and sinus tract in children. Laryngoscope. 1990;100(3):320–1.PubMedGoogle Scholar
  35. 35.
    Lam HC, Soo G, Woemald PJ, et al. Excision of the preauricular sinus: a comparison of two surgical techniques. Laryngoscope. 2001;111(2):317–9.PubMedGoogle Scholar
  36. 36.
    Baatenburg de Jong RJ. A new surgical technique for treatment of preauricular sinus. Surgery. 2005;137(5):567–70.PubMedGoogle Scholar
  37. 37.
    Ahuja AT, Marshall JN, Roebuck DJ, et al. Sonographic appearances of preauricular sinus. Clin Radiol. 2000;55(7):528–32.PubMedGoogle Scholar
  38. 38.
    Lau JT. Towards better delineation and complete excision of preauricular sinus. Aust N Z J Surg. 1983;53(3):267–9.PubMedGoogle Scholar
  39. 39.
    Declau F, Van De Heyning P, Cremers C. Diagnosis and management strategies in congenital middle and external ear anomalies. In: Scadding GK, Graham JM, Bull PD, editors. Pediatric ENT. Heidelberg: Springer; 2007. p. 361–75.Google Scholar
  40. 40.
    Kelley PE, Scholes MA. Microtia and congenital aural atresia. Otolaryngol Clin North Am. 2007;40(1):61–80. vi.PubMedGoogle Scholar
  41. 41.
    Shaw GM, Carmichael SL, Kaidarova Z, et al. Epidemiologic characteristics of anotia and microtia in California, 1989–1997. Birth Defects Res A Clin Mol Teratol. 2004;70(7):472–5.PubMedGoogle Scholar
  42. 42.
    Klaiber S, Weerda H. [BAHA (bone-anchored hearing aid) in bilateral external ear dysplasia and congenital ear atresia]. HNO. 2002;50(10):949–59.Google Scholar
  43. 43.
    Murphy TP, Burstein F, Cohen S. Management of congenital atresia of the external auditory canal. Otolaryngol Head Neck Surg. 1997;116(6 Pt 1):580–4.PubMedGoogle Scholar
  44. 44.
    Veltman JA, Jonkers Y, Nuijten I, et al. Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet. 2003;72(6):1578–84.PubMedGoogle Scholar
  45. 45.
    Swartz JD, Faerber EN. Congenital malformations of the external and middle ear: high-resolution CT findings of surgical import. AJR Am J Roentgenol. 1985;144(3):501–6.PubMedGoogle Scholar
  46. 46.
    Kosling S, Omenzetter M, Bartel-Friedrich S. Congenital malformations of the external and middle ear. Eur J Radiol. 2009;69(2):269–79.PubMedGoogle Scholar
  47. 47.
    Weerda H. Chirurgie der ohrmuschel: verletzungen, defekte und anomalien. Stuttgart: Thieme; 2004. p. 105–226.Google Scholar
  48. 48.
    Altmann F. Congenital atresia of the ear in man and animals. Ann Otol Rhinol Laryngol. 1955;64(3):824–58.PubMedGoogle Scholar
  49. 49.
    Declau F, Offeciers F, Van de Heyning P. Classification of the non-syndromal type of meatal atresia. In: Devranoglu I, editor. Proceedings of the XVth world congress of otorhinolaryngology head and neck surgery: panel discussions. Istanbul, Turkey. 1999. p. 135–7.Google Scholar
  50. 50.
    Walton RL, Beahm EK. Auricular reconstruction for microtia: part II. Surgical techniques. Plast Reconstr Surg. 2002;110(1):234–49. quiz 250–1, 387.PubMedGoogle Scholar
  51. 51.
    Jahrsdoerfer RA, Yeakley JW, Aguilar EA, et al. Grading system for the selection of patients with congenital aural atresia. Am J Otol. 1992;13(1):6–12.PubMedGoogle Scholar
  52. 52.
    Jahrsdoerfer RA. Congenital atresia of the ear. Laryngoscope. 1978;88(9 Pt 3 Suppl 13):1–48.Google Scholar
  53. 53.
    Vendramini-Pittoli S, Kokitsu-Nakata NM. Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. 2009;18(2):67–77.PubMedGoogle Scholar
  54. 54.
    Harris J, Kallen B, Robert E. The epidemiology of anotia and microtia. J Med Genet. 1996;33(10):809–13.PubMedGoogle Scholar
  55. 55.
    Nelson SM, Berry RI. Ear disease and hearing loss among Navajo children – a mass survey. Laryngoscope. 1984;94(3):316–23.PubMedGoogle Scholar
  56. 56.
    Novacek MJ. Patterns of diversity in the reptilian skull. In: Hall BK, Hanken J, editors. The skull, vol. 2. Chicago: University of Chicago Press; 1993. p. 438–545.Google Scholar
  57. 57.
    Rieppel O. Patterns of diversity in the reptilian skull. In: Hall BK, Hanken J, editors. The skull, vol. 2. Chicago: University of Chicago Press; 1993. p. 344–90.Google Scholar
  58. 58.
    Rowe T. Coevolution of the mammalian middle ear and neocortex. Science. 1996;273(5275):651–4.PubMedGoogle Scholar
  59. 59.
    Allin EF. Evolution of the mammalian middle ear. J Morphol. 1975;147(4):403–37.PubMedGoogle Scholar
  60. 60.
    Hopson JA. The origin of the mammalian middle ear. Am Zool. 1966;6(3):437–50.PubMedGoogle Scholar
  61. 61.
    Farrior JB. Surgical management of congenital conductive deafness. South Med J. 1987;80(4):450–3.PubMedGoogle Scholar
  62. 62.
    Stewart JM, Downs MP. Congenital conductive hearing loss: the need for early identification and intervention. Pediatrics. 1993;91(2):355–9.PubMedGoogle Scholar
  63. 63.
    Yuen HY, Ahuja AT, Wong KT, et al. Computed tomography of common congenital lesions of the temporal bone. Clin Radiol. 2003;58(9):687–93.PubMedGoogle Scholar
  64. 64.
    Park HY, Han DH, Lee JB, et al. Congenital stapes anomalies with normal eardrum. Clin Exp Otorhinolaryngol. 2009;2(1):33–8.PubMedGoogle Scholar
  65. 65.
    Raveh E, Hu W, Papsin BC, et al. Congenital conductive hearing loss. J Laryngol Otol. 2002;116(2):92–6.PubMedGoogle Scholar
  66. 66.
    Hung KL, Tu TY, Tsai TL, et al. Congenital ossicular anomalies. J Chin Med Assoc. 2003;66(8):474–9.PubMedGoogle Scholar
  67. 67.
    Teunissen B, Cremers WR, Huygen PL, et al. Isolated congenital stapes ankylosis: surgical results in 32 ears and a review of the literature. Laryngoscope. 1990;100(12):1331–6.PubMedGoogle Scholar
  68. 68.
    Vore AP, Chang EH, Hoppe JE, et al. Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. Arch Otolaryngol Head Neck Surg. 2005;131(12):1057–63.PubMedGoogle Scholar
  69. 69.
    Jahrsdoerfer RA. The facial nerve in congenital middle ear malformations. Laryngoscope. 1981;91(8):1217–25.PubMedGoogle Scholar
  70. 70.
    Cremers CW, Teunissen E. The impact of a syndromal diagnosis on surgery for congenital minor ear anomalies. Int J Pediatr Otorhinolaryngol. 1991;22(1):59–74.PubMedGoogle Scholar
  71. 71.
    Albert S, Roger G, Rouillon I, et al. Congenital stapes ankylosis: study of 28 cases and surgical results. Laryngoscope. 2006;116(7):1153–7.PubMedGoogle Scholar
  72. 72.
    De la Cruz A, Angeli S, Slattery WH. Stapedectomy in children. Otolaryngol Head Neck Surg. 1999;120(4):487–92.PubMedGoogle Scholar
  73. 73.
    Teunissen EB, Cremers WR. Classification of congenital middle ear anomalies. Report on 144 ears. Ann Otorhinolaryngol. 1993;102(8 Pt 1):606–12.Google Scholar
  74. 74.
    Charachon R, Barthez M, Lavieille JP. Minor malformations of the ear ossicles. New classification and therapeutic results. Ann Otolaryngol Chir Cervicofac. 1994;111(2):69–74.PubMedGoogle Scholar
  75. 75.
    von Haacke NP. Juvenile stapedectomy. Clin Otolaryngol Allied Sci. 1985;10(1):9–13.Google Scholar
  76. 76.
    Tange RA. Ossicular reconstruction in cases of absent or inadequate incus, congenital malformation of the middle ear and epitympanic fixation of the incus and malleus. ORL J Otorhinolaryngol Relat Spec. 1996;58(3):143–6.PubMedGoogle Scholar
  77. 77.
    House JW, Sheehy JL, Antunez JC. Stapedectomy in children. Laryngoscope. 1980;90(11 Pt 1):1804–9.PubMedGoogle Scholar
  78. 78.
    Dornhoffer JL, Helms J, Hoehmann DH. Stapedectomy for congenital fixation of the stapes. Am J Otol. 1995;16(3):382–6.PubMedGoogle Scholar
  79. 79.
    Massey BL, Hillman TA, Shelton C. Stapedectomy in congenital stapes fixation: are hearing outcomes poorer? Otolaryngol Head Neck Surg. 2006;134(5):816–8.PubMedGoogle Scholar
  80. 80.
    Bachor E, Just T, Wright CG, et al. Fixation of the stapes footplate in children: a clinical and temporal bone histopathologic study. Otol Neurotol. 2005;26(5):866–73.PubMedGoogle Scholar
  81. 81.
    Kisilevsky VE, Bailie NA, Dutt SN, et al. Hearing results of stapedotomy and malleo-vestibulopexy in congenital hearing loss. Int J Pediatr Otorhinolaryngol. 2009;73(12):1712–7.PubMedGoogle Scholar
  82. 82.
    Teele DW, Klein JO, Rosner B. Epidemiology of otitis media during the first seven years of life in children in greater Boston: a prospective, cohort study. J Infect Dis. 1989;160(1):83–94.PubMedGoogle Scholar
  83. 83.
    Paradise JL, Rockette HE, Colborn DK, et al. Otitis media in 2253 Pittsburgh-area infants: prevalence and risk factors during the first two years of life. Pediatrics. 1997;99(3):318–33.PubMedGoogle Scholar
  84. 84.
    Nelson M, Roger G, Koltai PJ, et al. Congenital cholesteatoma: classification, management, and outcome. Arch Otolaryngol Head Neck Surg. 2002;128(7):810–4.PubMedGoogle Scholar
  85. 85.
    Potsic WP, Korman SB, Samadi DS, et al. Congenital cholesteatoma: 20 years' experience at The Children's Hospital of Philadelphia. Otolaryngol Head Neck Surg. 2002;126(4):409–14.PubMedGoogle Scholar
  86. 86.
    Parisier SC, Weiss MH. Recidivism in congenital cholesteatoma surgery. Ear Nose Throat J. 1991;70(6):362–4.PubMedGoogle Scholar
  87. 87.
    Lazard DS, Roger G, Denoyelle F, et al. Congenital cholesteatoma: risk factors for residual disease and retraction pockets – a report on 117 cases. Laryngoscope. 2007;117(4):634–7.PubMedGoogle Scholar
  88. 88.
    Baker CV, Bronner-Fraser M. Vertebrate cranial placodes I. Embryonic induction. Dev Biol. 2001;232(1):1–61.PubMedGoogle Scholar
  89. 89.
    O'Rahilly R. The early development of the otic vesicle in staged human embryos. J Embryol Exp Morphol. 1963;11:741–55.PubMedGoogle Scholar
  90. 90.
    Moore JK, Linthicum Jr FH. The human auditory system: a timeline of development. Int J Audiol. 2007;46(9):460–78.PubMedGoogle Scholar
  91. 91.
    Bredberg G. Cellular pattern and nerve supply of the human organ of Corti. Acta Otolaryngol. 1968;Suppl 236:1+.Google Scholar
  92. 92.
    Lavigne-Rebillard M, Pujol R. Surface aspects of the developing human organ of Corti. Acta Otolaryngol Suppl. 1987;436:43–50.PubMedGoogle Scholar
  93. 93.
    Cooper HR. The development of the human auditory pathway from the cochlear ganglion to the medial geniculate body. Acta Anat (Basel). 1948;5(1–2):99–122.Google Scholar
  94. 94.
    Pujol R, Lavigne-Rebillard M. Early stages of innervation and sensory cell differentiation in the human fetal organ of Corti. Acta Otolaryngol Suppl. 1985;423:43–50.PubMedGoogle Scholar
  95. 95.
    Robson CD. Congenital hearing impairment. Pediatr Radiol. 2006;36(4):309–24.PubMedGoogle Scholar
  96. 96.
    Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope. 1987;97(3 Pt 2 Suppl 40):2–14.Google Scholar
  97. 97.
    Sennaroglu L, Saatci I. A new classification for cochleovestibular malformations. Laryngoscope. 2002;112(12):2230–41.PubMedGoogle Scholar
  98. 98.
    Krombach GA, Honnef D, Westhofen M, et al. Imaging of congenital anomalies and acquired lesions of the inner ear. Eur Radiol. 2008;18(2):319–30.PubMedGoogle Scholar
  99. 99.
    White KR. Early hearing detection and intervention programs: opportunities for genetic services. Am J Med Genet A. 2004;130A(1):29–36.PubMedGoogle Scholar
  100. 100.
    Bamiou DE, Phelps P, Sirimanna T. Temporal bone computed tomography findings in bilateral sensorineural hearing loss. Arch Dis Child. 2000;82(3):257–60.PubMedGoogle Scholar
  101. 101.
    Reilly GP, Lalwani AK, Jackler RK. Congenital anomalies of the inner ear. In: Grundfast KM, Lalwani AK, editors. Pediatric otology and neurotology. Philadelphia: Lippincott-Raven; 1998. p. 201–10.Google Scholar
  102. 102.
    Eelkema EA, Curtin HD. Congenital anomalies of the temporal bone. Semin Ultrasound CT MR. 1989;10(3):195–212.PubMedGoogle Scholar
  103. 103.
    Parry DA, Booth T, Roland PS. Advantages of magnetic resonance imaging over computed tomography in preoperative evaluation of pediatric cochlear implant candidates. Otol Neurotol. 2005;26(5):976–82.PubMedGoogle Scholar
  104. 104.
    Colletti V, Carner M, Fiorino F, et al. Hearing restoration with auditory brainstem implant in three children with cochlear nerve aplasia. Otol Neurotol. 2002;23(5):682–93.PubMedGoogle Scholar
  105. 105.
    Graham JM, Phelps PD, Michaels L. Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity. J Laryngol Otol Suppl. 2000;25:1–14.PubMedGoogle Scholar
  106. 106.
    Mylanus EA, Rotteveel LJ, Leeuw RL. Congenital malformation of the inner ear and pediatric cochlear implantation. Otol Neurotol. 2004;25(3):308–17.PubMedGoogle Scholar
  107. 107.
    Smith RJ, Schwartz C. Branchio-oto-renal syndrome. J Commun Disord. 1998;31(5):411–20. quiz 421.PubMedGoogle Scholar
  108. 108.
    Jackler RK. Congenital malformations of the inner ear. In: Cummings CS, editor. Otolaryngology—head and neck surgery. Chicago: Mosby-Yearbook; 1993.Google Scholar
  109. 109.
    Papsin BC. Cochlear implantation in children with anomalous cochleovestibular anatomy. Laryngoscope. 2005;115(1 Pt 2 Suppl 106):1–26.Google Scholar
  110. 110.
    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;40(2):94–104.PubMedGoogle Scholar
  111. 111.
    Atkin JS, Grimmer JF, Hedlund G, et al. Cochlear abnormalities associated with enlarged vestibular aqueduct anomaly. Int J Pediatr Otorhinolaryngol. 2009;73(12):1682–5.PubMedGoogle Scholar
  112. 112.
    Phelps PD. Mondini and 'pseudo Mondini'. Clin Otolaryngol Allied Sci. 1990;15(2):99–101.PubMedGoogle Scholar
  113. 113.
    Wilson JT, Leivy SW, Sofferman RA, et al. Mondini dysplasia: spontaneous cerebrospinal fluid otorrhea. New perspectives in management. Pediatr Neurosurg. 1990;16(4–5):260–4.PubMedGoogle Scholar
  114. 114.
    Ohlms LA, Edwards MS, Mason EO, et al. Recurrent meningitis and Mondini dysplasia. Arch Otolaryngol Head Neck Surg. 1990;116(5):608–12.PubMedGoogle Scholar
  115. 115.
    Naganawa S, Ito T, Iwayama E, et al. MR imaging of the cochlear modiolus: area measurement in healthy subjects and in patients with a large endolymphatic duct and sac. Radiology. 1999;213(3):819–23.PubMedGoogle Scholar
  116. 116.
    Kendi TK, Arikan OK, Koc C. Magnetic resonance imaging of cochlear modiolus: determination of mid-modiolar area and modiolar volume. J Laryngol Otol. 2004;118(7):496–9.PubMedGoogle Scholar
  117. 117.
    Rodriguez K, Shah RK, Kenna M. Anomalies of the middle and inner ear. Otolaryngol Clin North Am. 2007;40(1):81–96. vi.PubMedGoogle Scholar
  118. 118.
    Nadol Jr JB, Young YS, Glynn RJ. Survival of spiral ganglion cells in profound sensorineural hearing loss: implications for cochlear implantation. Ann Otol Rhinol Laryngol. 1989;98(6):411–6.PubMedGoogle Scholar
  119. 119.
    Valvassori GE, Clemis JD. The large vestibular aqueduct syndrome. Laryngoscope. 1978;88(5):723–8.PubMedGoogle Scholar
  120. 120.
    Jackler RK, De La Cruz A. The large vestibular aqueduct syndrome. Laryngoscope. 1989;99(12):1238–42. discussion 1242–3.PubMedGoogle Scholar
  121. 121.
    Okumura T, Takahashi H, Honjo I, et al. Sensorineural hearing loss in patients with large vestibular aqueduct. Laryngoscope. 1995;105(3 Pt 1):289–93. discussion 293–4.PubMedGoogle Scholar
  122. 122.
    Zalzal GH, Tomaski SM, Vezina LG, et al. Enlarged vestibular aqueduct and sensorineural hearing loss in childhood. Arch Otolaryngol Head Neck Surg. 1995;121(1):23–8.PubMedGoogle Scholar
  123. 123.
    Levenson MJ, Parisier SC, Jacobs M, et al. The large vestibular aqueduct syndrome in children. A review of 12 cases and the description of a new clinical entity. Arch Otolaryngol Head Neck Surg. 1989;115(1):54–8.PubMedGoogle Scholar
  124. 124.
    Emmett JR. The large vestibular aqueduct syndrome. Am J Otol. 1985;6(5):387–415.PubMedGoogle Scholar
  125. 125.
    Valvassori GE. The large vestibular aqueduct and associated anomalies of the inner ear. Otolaryngol Clin North Am. 1983;16(1):95–101.PubMedGoogle Scholar
  126. 126.
    Fahy CP, Carney AS, Nikolopoulos TP, et al. Cochlear implantation in children with large vestibular aqueduct syndrome and a review of the syndrome. Int J Pediatr Otorhinolaryngol. 2001;59(3):207–15.PubMedGoogle Scholar
  127. 127.
    Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol. 1998;53(4):268–73.PubMedGoogle Scholar
  128. 128.
    Stinckens C, Standaert L, Casselman JW, et al. 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. 2001;59(3):163–72.PubMedGoogle Scholar
  129. 129.
    Miura M, Sando I, Orita Y, et al. Temporal bone histopathological study of Noonan syndrome. Int J Pediatr Otorhinolaryngol. 2001;60(1):73–82.PubMedGoogle Scholar
  130. 130.
    Madden C, Halsted MJ, Hopkin RJ, et al. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope. 2003;113(11):2035–41.PubMedGoogle Scholar
  131. 131.
    Berrettini S, Forli F, Franceschini SS, et al. Distal renal tubular acidosis associated with isolated large vestibular aqueduct and sensorineural hearing loss. Ann Otol Rhinol Laryngol. 2002;111(5 Pt 1):385–91.PubMedGoogle Scholar
  132. 132.
    Shinjo Y, Kaga K, Igarashi T. Distal renal tubular acidosis associated with large vestibular aqueduct and sensorineural hearing loss. Acta Otolaryngol. 2005;125(6):667–70.PubMedGoogle Scholar
  133. 133.
    Abe S, Usami S, Hoover DM, et al. Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. Am J Med Genet. 1999;82(4):322–8.PubMedGoogle Scholar
  134. 134.
    Usami S, Abe S, Weston MD, et al. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999;104(2):188–92.PubMedGoogle Scholar
  135. 135.
    Arcand P, Desrosiers M, Dube J, et al. The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population. J Otolaryngol. 1991;20(4):247–50.PubMedGoogle Scholar
  136. 136.
    Govaerts PJ, Casselman J, Daemers K, et al. Audiological findings in large vestibular aqueduct syndrome. Int J Pediatr Otorhinolaryngol. 1999;51(3):157–64.PubMedGoogle Scholar
  137. 137.
    Belenky WM, Madgy DN, Leider JS, et al. The enlarged vestibular aqueduct syndrome (EVA syndrome). Ear Nose Throat J. 1993;72(11):746–51.PubMedGoogle Scholar
  138. 138.
    Lai CC, Shiao AS. Chronological changes of hearing in pediatric patients with large vestibular aqueduct syndrome. Laryngoscope. 2004;114(5):832–8.PubMedGoogle Scholar
  139. 139.
    Steinbach S, Brockmeier SJ, Kiefer J. The large vestibular aqueduct – case report and review of the literature. Acta Otolaryngol. 2006;126(8):788–95.PubMedGoogle Scholar
  140. 140.
    Walsh RM, Ayshford CA, Chavda SV, et al. Large vestibular aqueduct syndrome. ORL J Otorhinolaryngol Relat Spec. 1999;61(1):41–4.PubMedGoogle Scholar
  141. 141.
    Oh AK, Ishiyama A, Baloh RW. Vertigo and the enlarged vestibular aqueduct syndrome. J Neurol. 2001;248(11):971–4.PubMedGoogle Scholar
  142. 142.
    Mori T, Westerberg BD, Atashband S, et al. Natural history of hearing loss in children with enlarged vestibular aqueduct syndrome. J Otolaryngol Head Neck Surg. 2008;37(1):112–8.PubMedGoogle Scholar
  143. 143.
    Dahlen RT, Harnsberger HR, Gray SD, et al. Overlapping thin-section fast spin-echo MR of the large vestibular aqueduct syndrome. AJNR Am J Neuroradiol. 1997;18(1):67–75.PubMedGoogle Scholar
  144. 144.
    Naganawa S, Koshikawa T, Iwayama E, et al. MR imaging of the enlarged endolymphatic duct and sac syndrome by use of a 3D fast asymmetric spin-echo sequence: volume and signal-intensity measurement of the endolymphatic duct and sac and area measurement of the cochlear modiolus. AJNR Am J Neuroradiol. 2000;21(9):1664–9.PubMedGoogle Scholar
  145. 145.
    Berrettini S, Forli F, Bogazzi F, et al. Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features. Am J Otolaryngol. 2005;26(6):363–71.PubMedGoogle Scholar
  146. 146.
    Harker LA, Vanderheiden S, Veazry D, et al. Multichannel cochlear implantation in children with large vestibular aqueduct syndrome. Ann Otol Rhinol Laryngol Suppl. 1999;177:39–43.PubMedGoogle Scholar
  147. 147.
    Nowak KC, Messner AH. Isolated large vestibular aqueduct syndrome in a family. Ann Otol Rhinol Laryngol. 2000;109(1):40–4.PubMedGoogle Scholar
  148. 148.
    Wilson DF, Hodgson RS, Talbot JM. Endolymphatic sac obliteration for large vestibular aqueduct syndrome. Am J Otol. 1997;18(1):101–6. discussion 106–7.PubMedGoogle Scholar
  149. 149.
    Reussner LA, Dutcher PO, House WF. Large vestibular aqueduct syndrome with massive endolymphatic sacs. Otolaryngol Head Neck Surg. 1995;113(5):606–10.PubMedGoogle Scholar
  150. 150.
    Welling DB, et al. Endolymphatic sac occlusion for the enlarged vestibular aqueduct syndrome. Am J Otol. 1998;19(2):145–51.PubMedGoogle Scholar
  151. 151.
    Welling DB, Slater PW, Martyn MD, et al. Sensorineural hearing loss after occlusion of the enlarged vestibular aqueduct. Am J Otol. 1999;20(3):338–43.PubMedGoogle Scholar
  152. 152.
    Lin CY, Lin SL, Kao CC, et al. The remediation of hearing deterioration in children with large vestibular aqueduct syndrome. Auris Nasus Larynx. 2005;32(2):99–105.PubMedGoogle Scholar
  153. 153.
    Aschendorff A, Marangos N, Laszig R. Large vestibular aqueduct syndrome and its implication for cochlear implant surgery. Am J Otol. 1997;18(6 Suppl):S57.PubMedGoogle Scholar
  154. 154.
    Miyamoto RT, Bichey BG, Wynne MK, et al. Cochlear implantation with large vestibular aqueduct syndrome. Laryngoscope. 2002;112(7 Pt 1):1178–82.PubMedGoogle Scholar
  155. 155.
    Au G, Gibson W. Cochlear implantation in children with large vestibular aqueduct syndrome. Am J Otol. 1999;20(2):183–6.PubMedGoogle Scholar
  156. 156.
    Slattery 3rd WH, Luxford WM. Cochlear implantation in the congenital malformed cochlea. Laryngoscope. 1995;105(11):1184–7.PubMedGoogle Scholar
  157. 157.
    Bent 3rd JP, Chute P, Parisier SC. Cochlear implantation in children with enlarged vestibular aqueducts. Laryngoscope. 1999;109(7 Pt 1):1019–22.PubMedGoogle Scholar
  158. 158.
    Gasser RF, Shigihara S, Shimada K. Three-dimensional development of the facial nerve path through the ear region in human embryos. Ann Otol Rhinol Laryngol. 1994;103(5 Pt 1):395–403.PubMedGoogle Scholar
  159. 159.
    Gasser RF. The development of the facial nerve in man. Ann Otol Rhinol Laryngol. 1967;76(1):37–56.PubMedGoogle Scholar
  160. 160.
    Gasser RF, Maya M. Embryonic development of the facial nerve. In: May M, editor. The facial nerve. New York: Thieme; 1986. p. 3–19.Google Scholar
  161. 161.
    Spector JG, Ge X. Ossification patterns of the tympanic facial canal in the human fetus and neonate. Laryngoscope. 1993;103(9):1052–65.PubMedGoogle Scholar
  162. 162.
    Caparosa RJ, Klassen D. Congenital anomalies of the stapes and facial nerve. Arch Otolaryngol. 1966;83(5):420–1.PubMedGoogle Scholar
  163. 163.
    Gulya AJ. Developmental anatomy of the temporal bone and skull base. In: Gulya AJ, Glasscock ME, editors. Ear surgery. Hamilton: BC Decker; 2003. p. 24–5.Google Scholar
  164. 164.
    Saito H, Takeda T, Kishimoto S. Neonatal facial nerve defect. Acta Otolaryngol Suppl. 1994;510:77–81.PubMedGoogle Scholar
  165. 165.
    Falco NA, Eriksson E. Facial nerve palsy in the newborn: incidence and outcome. Plast Reconstr Surg. 1990;85(1):1–4.PubMedGoogle Scholar
  166. 166.
    Evans PR. Nuclear agenesis: Mobius' syndrome: the congenital facial diplegia syndrome. Arch Dis Child. 1955;30(151):237–43.PubMedGoogle Scholar
  167. 167.
    Legum C, Godel V, Nemet P. Heterogeneity and pleiotropism in the Moebius syndrome. Clin Genet. 1981;20(4):254–9.PubMedGoogle Scholar
  168. 168.
    MacDermot KD, et al. Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Mobius spectrum of defects'. J Med Genet. 1991;28(1):18–26.PubMedGoogle Scholar
  169. 169.
    Kuhn MJ, Clark HB, Morales A, et al. Group III Mobius syndrome: CT and MR findings. AJNR Am J Neuroradiol. 1990;11(5):903–4.PubMedGoogle Scholar
  170. 170.
    Sudarshan A, Goldie WD. The spectrum of congenital facial diplegia (Moebius syndrome). Pediatr Neurol. 1985;1(3):180–4.PubMedGoogle Scholar
  171. 171.
    Towfighi J, Marks K, Palmer E, et al. Mobius syndrome. Neuropathologic observations. Acta Neuropathol. 1979;48(1):11–7.PubMedGoogle Scholar
  172. 172.
    Heubner O. Uber angeborenen Kernmangel (infantiler Kernschwund, Moebius). Charite Annaien. 1900;25:211–43.Google Scholar
  173. 173.
    D'Cruz OF, Swisher CN, Jaradeh S, et al. Mobius syndrome: evidence for a vascular etiology. J Child Neurol. 1993;8(3):260–5.PubMedGoogle Scholar
  174. 174.
    Thakkar N, O'Neil W, Duvally J, et al. Mobius syndrome due to brain stem tegmental necrosis. Arch Neurol. 1977;34(2):124–6.PubMedGoogle Scholar
  175. 175.
    Harris JP, Davidson TM, May M, et al. Evaluation and treatment of congenital facial paralysis. Arch Otolaryngol. 1983;109(3):145–51.PubMedGoogle Scholar
  176. 176.
    Hanissian AS, Fuste F, Hayes WT, et al. Mobius syndrome in twins. Am J Dis Child. 1970;120(5):472–5.PubMedGoogle Scholar
  177. 177.
    Saito H, Kishimoto S, Furuta M. Temporal bone findings in a patient with Mobius syndrome. Ann Otol Rhinol Laryngol. 1981;90(1 Pt 1):80–4.PubMedGoogle Scholar
  178. 178.
    Reed H, Grant W. Mobius's syndrome. Br J Ophthalmol. 1957;41(12):731–40.PubMedGoogle Scholar
  179. 179.
    Richards RN. The Mobius syndrome. J Bone Joint Surg Am. 1953;35-A(2):437–44.PubMedGoogle Scholar
  180. 180.
    McHugh HE, Sowden KA, Levitt MN. Facial paralysis and muscle agenesis in the newborn. Arch Otolaryngol. 1969;89(1):131–43.PubMedGoogle Scholar
  181. 181.
    Sunderland S. Nerve injuries and their repair: a critical appraisal. Edinburgh: Churchill Livingstone; 1991.Google Scholar
  182. 182.
    Carlson BM. The development of facial muscles and nerves in relation to the Mobius syndrome. Otolaryngol Head Neck Surg. 1981;89(6):903–6.PubMedGoogle Scholar
  183. 183.
    Carr MM, Ross DA, Zuker RM. Cranial nerve defects in congenital facial palsy. J Otolaryngol. 1997;26(2):80–7.PubMedGoogle Scholar
  184. 184.
    Van Allen MW, Blodi FC. Neurologic aspects of the Mobius syndrome. A case study with electromyography of the extraocular and facial muscles. Neurology. 1960;10:249–59.Google Scholar
  185. 185.
    Hanson PA, Rowland LP. Mobius syndrome and facioscapulohumeral muscular dystrophy. Arch Neurol. 1971;24(1):31–9.PubMedGoogle Scholar
  186. 186.
    Ouanounou S, Saigal G, Birchansky S. Mobius syndrome. AJNR Am J Neuroradiol. 2005;26(2):430–2.PubMedGoogle Scholar
  187. 187.
    Verzijl HT, van den Helm B, Veldman B, et al. A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family. Am J Hum Genet. 1999;65(3):752–6.PubMedGoogle Scholar
  188. 188.
    Rizos M, Negron RJ, Serman N. Mobius syndrome with dental involvement: a case report and literature review. Cleft Palate Craniofac J. 1998;35(3):262–8.PubMedGoogle Scholar
  189. 189.
    Sugarman GI, Stark HH. Mobius syndrome with Poland's anomaly. J Med Genet. 1973;10(2):192–6.PubMedGoogle Scholar
  190. 190.
    Pedraza S, Gamez J, Rovira A, et al. MRI findings in Mobius syndrome: correlation with clinical features. Neurology. 2000;55(7):1058–60.PubMedGoogle Scholar
  191. 191.
    Abramson DL, Cohen Jr MM, Mulliken JB. Mobius syndrome: classification and grading system. Plast Reconstr Surg. 1998;102(4):961–7.PubMedGoogle Scholar
  192. 192.
    Cattaneo L, Chierici E, Bianchi B, et al. The localization of facial motor impairment in sporadic Mobius syndrome. Neurology. 2006;66(12):1907–12.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Nael M. Shoman
    • 1
  • Ravi N. Samy
    • 2
  • Daniel I. Choo
    • 3
  1. 1.Division of Otolaryngology – Head and Neck Surgery, Department of SurgerySt. Paul’s HospitalSaskatoonCanada
  2. 2.Department of Otolaryngology Head and Neck SurgeryUniversity Hospital/University of CincinnatiCincinnatiUSA
  3. 3.Division of Pediatric Otolaryngology, Department of Otolaryngology Head and Neck SurgeryCincinnati Children’s Hospital Medical CenterCincinnatiUSA

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