Classification and diagnosis of ear malformations

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Abstract

In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90%) and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations) or acquired in nature. Malformations can affect the outer ear (pinna and external auditory canal, EAC), middle ear and inner ear, not infrequently in combination. Formal classification is advisable in order to be able to predict the prognosis and compare treatment schedules. Various classifications have been proposed: pinna and EAC malformations according to Weerda [ 1], middle ear malformations according to Kösling [ 2], and inner ear malformations according to Jackler [ 3], [ 4], to Marangos [ 5] and to Sennaroglu [ 6]. Additionally, we describe Altmann’s classification of atresia auris congenita [ 7] and the Siegert-Mayer-Weerda score [ 8] for EAC and middle ear malformations, systems of great practicability that are in widespread clinical use. The diagnostic steps include clinical examination, audiological testing, genetic analysis and, especially, CT and MRI. These imaging methods are most usefully employed in combination. Precise description of the malformations by means of CT and MRI is indispensable for the planning and successful outcome of operative ear reconstruction and rehabilitation procedures, including cochlear implantation.

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Sox2 is required for sensory organ development in the mammalian inner ear.

Amy E. Kiernan, Anna L Pelling, Keith Leung … (2005)

Sensory hair cells and their associated non-sensory supporting cells in the inner ear are fundamental for hearing and balance. They arise from a common progenitor, but little is known about the molecular events specifying this cell lineage. We recently identified two allelic mouse mutants, light coat and circling (Lcc) and yellow submarine (Ysb), that show hearing and balance impairment. Lcc/Lcc mice are completely deaf, whereas Ysb/Ysb mice are severely hearing impaired. We report here that inner ears of Lcc/Lcc mice fail to establish a prosensory domain and neither hair cells nor supporting cells differentiate, resulting in a severe inner ear malformation, whereas the sensory epithelium of Ysb/Ysb mice shows abnormal development with disorganized and fewer hair cells. These phenotypes are due to the absence (in Lcc mutants) or reduced expression (in Ysb mutants) of the transcription factor SOX2, specifically within the developing inner ear. SOX2 continues to be expressed in the inner ears of mice lacking Math1 (also known as Atoh1 and HATH1), a gene essential for hair cell differentiation, whereas Math1 expression is absent in Lcc mutants, suggesting that Sox2 acts upstream of Math1.

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A new classification for cochleovestibular malformations.

Levent Sennaroglu, Işil Saatçi (2002)

The report proposes a new classification system for inner ear malformations, based on radiological features of inner ear malformations reviewed in 23 patients. The investigation took the form of a retrospective review of computerized tomography findings relating to the temporal bone in 23 patients (13 male and 10 female patients) with inner ear malformations. The subjects were patients with profound bilateral sensorineural hearing loss who had all had high-resolution computed tomography (CT) with contiguous 1-mm-thick images obtained through the petrous bone in axial sections. The CT results were reviewed for malformations of bony otic capsule under the following subgroups: cochlear, vestibular, semicircular canal, internal auditory canal (IAC), and vestibular and cochlear aqueduct malformations. Cochlear malformations were classified as Michel deformity, common cavity deformity, cochlear aplasia, hypoplastic cochlea, incomplete partition types I (IP-I) and II (IP-II) (Mondini deformity). Incomplete partition type I (cystic cochleovestibular malformation) is defined as a malformation in which the cochlea lacks the entire modiolus and cribriform area, resulting in a cystic appearance, and there is an accompanying large cystic vestibule. In IP-II (the Mondini deformity), there is a cochlea consisting of 1.5 turns (in which the middle and apical turns coalesce to form a cystic apex) accompanied by a dilated vestibule and enlarged vestibular aqueduct. Four patients demonstrated anomalies involving only one inner ear component. All the remaining patients had diseases or conditions affecting more than one inner ear component. Eight ears had IP-I, and 10 patients had IP-II. Ears with IP-I had large cystic vestibules, whereas the amount of dilation was minimal in patients with IP-II. The majority of the semicircular canals (67%) were normal. Semicircular canal aplasia accompanied cases of Michel deformity, cochlear hypoplasia, and common cavity. In 14 ears, the IAC had a defective fundus at the lateral end. In two ears the IAC was absent. In all seven cases of common cavity malformations, there was a bony defect at the lateral end of the IAC. In five of them the IAC was enlarged, whereas in two the IAC was narrow. All patients with IP-I had an enlarged IAC, whereas in patients with type II disease, four had a normal IAC and 10 had an enlarged IAC. All cases of IP-II had an enlarged vestibular aqueduct, whereas this finding was not present in any of the cases of IP-I. In all cases, the vestibular aqueduct findings were symmetrical on both sides (simultaneously normal or enlarged). No patient demonstrated enlargement or any other abnormalities involving the cochlear aqueduct. Radiological findings of congenital malformations in the present study suggested two different types of incomplete partition. Cystic cochleovestibular malformation (IP-I) and the classic Mondini deformity (IP-II). The type I malformation is less differentiated than the type II malformation. Classic Mondini deformity has three components (a cystic apex, dilated vestibule, and large vestibular aqueduct), whereas type I malformation has an empty, cystic cochlea and vestibule without an enlarged vestibular aqueduct. Mondini deformity represents a later malformation, so the amount of dysplasia is much less than in type II. Therefore, it is more accurate and useful for clinical purposes to classify these malformations (in descending order of severity) as follows: Michel deformity, cochlear aplasia, common cavity, IP-I (cystic cochleovestibular malformation), cochlear hypoplasia, and IP-II (Mondini deformity). Only in this way can these complex malformations be grouped precisely and the results of cochlear implantation compared.

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Congenital malformations of the inner ear: a classification based on embryogenesis.

Robert K. Jackler, William M. Luxfor, William F. House (1987)

Approximately 20% of patients with congenital sensorineural hearing loss have radiographic abnormalities of the inner ear. A broad spectrum of anomalous patterns have been described, most of which have been lumped together under the term "Mondini's dysplasia." We feel that this grouping of many dissimilar entities under a single umbrella term is unwarranted. Based on a review of 63 patients with 98 congenitally malformed ears, we have been able to recognize a number of distinct anatomic patterns from their radiographic appearance. A remarkable similarity between these morphologies and the appearance of the inner ear at various stages of embryogenesis was found. This led us to propose a classification system based upon the theory that these deformities result from an arrest of development during varying stages of inner ear organogenesis.

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Journal ID (nlm-ta): GMS Curr Top Otorhinolaryngol Head Neck Surg

Journal ID (publisher-id): GMS Curr Top Otorhinolaryngol Head Neck Surg

Title: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery

Publisher: German Medical Science GMS Publishing House

ISSN (Electronic): 1865-1011

Publication date (Electronic): 14 March 2008

Publication date Collection: 2007

Volume: 6

Electronic Location Identifier: Doc05

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[1 ]Section of Phoniatrics and Pedaudiology, Department of Otorhinolaryngology - Head and Neck Surgery, University Hospital, Martin-Luther University Halle-Wittenberg, Germany

Author notes

*To whom correspondence should be addressed: Sylva Bartel-Friedrich, Section of Phoniatrics and Pedaudiology, Department of Otorhinolaryngology - Head and Neck Surgery, University Hospital, Martin Luther University Halle-Wittenberg, Magdeburger Strasse 12, 06097 Halle/Saale, Germany, Tel.: +49-345-5571868, Fax: +49-3455574738, E-mail: sylva.bartel-friedrich@ 123456medizin.uni-halle.de

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Publisher ID: cto000039 Publisher Item ID: Doc05

PMC ID: 3199848

PubMed ID: 22073081

SO-VID: 55d12025-55cc-4865-842a-94a997429d37

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This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free to copy, distribute and transmit the work, provided the original author and source are credited.

Classification and diagnosis of ear malformations

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Most cited references 95

Sox2 is required for sensory organ development in the mammalian inner ear.

A new classification for cochleovestibular malformations.

Congenital malformations of the inner ear: a classification based on embryogenesis.

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