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.
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- 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