Congenital anomalies of the ear
- Glenn C Isaacson, MD, FAAP
Glenn C Isaacson, MD, FAAP
- Section Editor — Pediatric Otolaryngology
- Professor, Department of Otolaryngology, Head and Neck Surgery and Pediatrics
- Lewis Katz School of Medicine at Temple University
- Section Editors
- Anna H Messner, MD
Anna H Messner, MD
- Section Editor — Pediatric Otolaryngology
- Professor of Otolaryngology/Head & Neck Surgery and Pediatrics
- Stanford University
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
Congenital anomalies are the product of errors in embryogenesis (malformations) or the result of intrauterine events that affect embryonic and fetal growth (deformations and disruptions) . The more complex the formation of a structure, the more opportunities for malformation.
The formation of the ear involves fusion of ectoderm, endoderm, and mesoderm. Defects in formation may lead to a wide variety of dysfunctional or malformed structures. The embryology, clinical features, and management of congenital anomalies of the ear are reviewed here. Congenital anomalies of the upper respiratory and gastrointestinal tracts are discussed separately. (See appropriate topic reviews).
Outer ear — The auricle or pinna is formed from the fusion of six raised soft tissue swellings (hillocks) on the surface of the embryo. Three of these hillocks are derived from the first branchial arch (Meckel) and three from the second branchial arch (Reichert) during the fifth and sixth weeks of intrauterine life. Growth of the fused tissues, guided by the pull of the intrinsic muscles of the ear, creates the folds of the helix, antihelix, and tragus (figure 1).
The ear canal is formed from an invagination of surface epithelium in the fifth week of intrauterine life. This solid core of cells meets a similar evagination from the pharynx, trapping a layer of mesothelium in between (figure 2). Fusion of these cells at the juncture results in the formation of the three layers of the tympanic membrane (figure 3). Recanalization of the external ear canal occurs in the second trimester and is complete at approximately 28 weeks gestation; vernix-like material is left behind .
The external auditory meatus is formed from an invagination of squamous epithelium from the first branchial cleft. This solid core of tissue recanalizes at the beginning of the third trimester.
- Jones KL. Dysmorphology approach and classification. In: Smith's recognizable patterns of human malformation, 6th ed, Elsevier Saunders, Philadelphia 2006. p.1.
- Donaldson JA, Anson BJ. Surgical anatomy of the temporal bone. In: Surgical anatomy of the temporal bone, 4th ed, Donaldson JA, et al (Eds), Raven Press, New York 1992. p.19.
- Isaacson G. Endoscopic anatomy of the pediatric middle ear. Otolaryngol Head Neck Surg 2014; 150:6.
- Ramsay H, Palva T, Northrop C. Spread and fate of amniotic fluid cellular content in the middle ear. Acta Otolaryngol 2001; 121:190.
- Isaacson G. Antenatal diagnosis of congenital deafness. Ann Otol Rhinol Laryngol 1988; 97:124.
- Harris J, Källén B, Robert E. The epidemiology of anotia and microtia. J Med Genet 1996; 33:809.
- Castilla EE, Lopez-Camelo JS, Campaña H. Altitude as a risk factor for congenital anomalies. Am J Med Genet 1999; 86:9.
- Ewart-Toland A, Yankowitz J, Winder A, et al. Oculoauriculovertebral abnormalities in children of diabetic mothers. Am J Med Genet 2000; 90:303.
- Ang GS, Simpson SA, Reddy AR. Mycophenolate mofetil embryopathy may be dose and timing dependent. Am J Med Genet A 2008; 146A:1963.
- Microtia-anotia. In: Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/omim (Accessed on October 06, 2009).
- Llano-Rivas I, González-del Angel A, del Castillo V, et al. Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City. Arch Med Res 1999; 30:120.
- Artunduaga MA, Quintanilla-Dieck Mde L, Greenway S, et al. A classic twin study of external ear malformations, including microtia. N Engl J Med 2009; 361:1216.
- Ferrario VF, Sforza C, Ciusa V, et al. Morphometry of the normal human ear: a cross-sectional study from adolescence to mid-adulthood. J Craniofac Genet Dev Biol 1999; 19:226.
- Ishimoto S, Ito K, Yamasoba T, et al. Correlation between microtia and temporal bone malformation evaluated using grading systems. Arch Otolaryngol Head Neck Surg 2005; 131:326.
- Hunter A, Frias JL, Gillessen-Kaesbach G, et al. Elements of morphology: standard terminology for the ear. Am J Med Genet A 2009; 149A:40.
- Calzolari F, Garani G, Sensi A, Martini A. Clinical and radiological evaluation in children with microtia. Br J Audiol 1999; 33:303.
- Eavey RD. Ear malformations. What a pediatrician can do to assist with auricular reconstruction. Pediatr Clin North Am 1996; 43:1233.
- Brent B. Technical advances in ear reconstruction with autogenous rib cartilage grafts: personal experience with 1200 cases. Plast Reconstr Surg 1999; 104:319.
- Reiffel AJ, Kafka C, Hernandez KA, et al. High-fidelity tissue engineering of patient-specific auricles for reconstruction of pediatric microtia and other auricular deformities. PLoS One 2013; 8:e56506.
- Wilkes GH, Wolfaardt JF. Osseointegrated alloplastic versus autogenous ear reconstruction: criteria for treatment selection. Plast Reconstr Surg 1994; 93:967.
- Lee D, Bluestone CD. The Becker technique for otoplasty: modified and revisited with long-term outcomes. Laryngoscope 2000; 110:949.
- Kelley P, Hollier L, Stal S. Otoplasty: evaluation, technique, and review. J Craniofac Surg 2003; 14:643.
- Limandjaja GC, Breugem CC, Mink van der Molen AB, Kon M. Complications of otoplasty: a literature review. J Plast Reconstr Aesthet Surg 2009; 62:19.
- Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V. The preauricular sinus: a review of its clinical presentation, treatment, and associations. Pediatr Dermatol 2004; 21:191.
- Meggyessy V, Méhes K. Preauricular pits in Hungary: epidemiologic and clinical observations. J Craniofac Genet Dev Biol 1982; 2:215.
- Roth DA, Hildesheimer M, Bardenstein S, et al. Preauricular skin tags and ear pits are associated with permanent hearing impairment in newborns. Pediatrics 2008; 122:e884.
- Kochhar A, Fischer SM, Kimberling WJ, Smith RJ. Branchio-oto-renal syndrome. Am J Med Genet A 2007; 143A:1671.
- Bellini C, Piaggio G, Massocco D, et al. Branchio-Oto-renal syndrome: a report on nine family groups. Am J Kidney Dis 2001; 37:505.
- Kugelman A, Tubi A, Bader D, et al. Pre-auricular tags and pits in the newborn: the role of renal ultrasonography. J Pediatr 2002; 141:388.
- Huang XY, Tay GS, Wansaicheong GK, Low WK. Preauricular sinus: clinical course and associations. Arch Otolaryngol Head Neck Surg 2007; 133:65.
- Prasad S, Grundfast K, Milmoe G. Management of congenital preauricular pit and sinus tract in children. Laryngoscope 1990; 100:320.
- Sanlaville D, Verloes A. CHARGE syndrome: an update. Eur J Hum Genet 2007; 15:389.
- Oskarsdóttir S, Holmberg E, Fasth A, Strömland K. Facial features in children with the 22q11 deletion syndrome. Acta Paediatr 2008; 97:1113.
- Trigg DJ, Applebaum EL. Indications for the surgical repair of unilateral aural atresia in children. Am J Otol 1998; 19:679.
- Danhauer JL, Johnson CE, Mixon M. Does the evidence support use of the Baha implant system (Baha) in patients with congenital unilateral aural atresia? J Am Acad Audiol 2010; 21:274.
- Brent B. The pediatrician's role in caring for patients with congenital microtia and atresia. Pediatr Ann 1999; 28:374.
- Béjar-Solar I, Rosete M, de Jesus Madrazo M, Baltierra C. Percutaneous bone-anchored hearing aids at a pediatric institution. Otolaryngol Head Neck Surg 2000; 122:887.
- Moss WJ, Lin HW, Cueva RA. Surgical and Audiometric Outcomes for Repair of Congenital Aural Atresia and Hypoplasia. JAMA Otolaryngol Head Neck Surg 2016; 142:52.
- Lambert PR. Congenital aural atresia: stability of surgical results. Laryngoscope 1998; 108:1801.
- Yellon RF. Atresiaplasty versus BAHA for congenital aural atresia. Laryngoscope 2011; 121:2.
- Hol MK, Nelissen RC, Agterberg MJ, et al. Comparison between a new implantable transcutaneous bone conductor and percutaneous bone-conduction hearing implant. Otol Neurotol 2013; 34:1071.
- Briggs RJ, Luxford WM. Correction of conductive hearing loss in children. Otolaryngol Clin North Am 1994; 27:607.
- Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987; 97:2.
- Marsot-Dupuch K, Dominguez-Brito A, Ghasli K, Chouard CH. CT and MR findings of Michel anomaly: inner ear aplasia. AJNR Am J Neuroradiol 1999; 20:281.
- Ozgen B, Oguz KK, Atas A, Sennaroglu L. Complete labyrinthine aplasia: clinical and radiologic findings with review of the literature. AJNR Am J Neuroradiol 2009; 30:774.
- Miyashita H, Isono M, Murata K, et al. Three-dimensional magnetic resonance imaging findings of inner ear anomaly. Acta Otolaryngol Suppl 2000; 542:67.
- Phelps PD. Mondini and the dysplastic lateral semi-circular canal. ORL J Otorhinolaryngol Relat Spec 1994; 56:116.
- Kaya S, Hızlı Ö, Kaya FK, et al. Peripheral vestibular pathology in Mondini dysplasia. Laryngoscope 2017; 127:206.
- Levenson MJ, Parisier SC, Jacobs M, Edelstein DR. 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; 115:54.
- Arjmand EM, Webber A. Audiometric findings in children with a large vestibular aqueduct. Arch Otolaryngol Head Neck Surg 2004; 130:1169.
- Rodriguez K, Shah RK, Kenna M. Anomalies of the middle and inner ear. Otolaryngol Clin North Am 2007; 40:81.
- Kenna MA, Rehm HL, Frangulov A, et al. Temporal bone abnormalities in children with GJB2 mutations. Laryngoscope 2011; 121:630.
- Queisser-Luft A, Stolz G, Wiesel A, et al. Associations between renal malformations and abnormally formed ears: Analysis of 32,589 newborns and newborn fetuses of the Mainz Congenital Birth Defect Monitoring System. In: XXI David W Smith Workshop on Malformation and Morphogenesis, San Diego 2000. p.60.
- Kohelet D, Arbel E. A prospective search for urinary tract abnormalities in infants with isolated preauricular tags. Pediatrics 2000; 105:E61.
- Leung AK, Robson WL. Association of preauricular sinuses and renal anomalies. Urology 1992; 40:259.
- Wang RY, Earl DL, Ruder RO, Graham JM Jr. Syndromic ear anomalies and renal ultrasounds. Pediatrics 2001; 108:E32.
- Outer ear
- Middle ear
- Inner ear
- OUTER EAR MALFORMATIONS
- Lop or outstanding ear
- Preauricular pits
- Accessory auricular appendage/preauricular tag
- Syndromes with associated external ear anomalies
- Aural atresia (external auditory canal atresia)
- MIDDLE EAR MALFORMATIONS
- INNER EAR MALFORMATIONS
- ASSOCIATION WITH RENAL ANOMALIES