The new classification system for inner ear malformations: the INCAV system

Adıbelli, Zehra Hilal; Isayeva, Leyla; Koç, Ali Murat; Çatlı, Tolgahan; Adibelli, Hamit; Olgun, Levent

doi:10.1080/00016489.2016.1247498

Cited by 21 publications

(20 citation statements)

References 15 publications

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“…In ∼20% of individuals with congenital SNHL, embryonic development of the inner ear is disturbed, leading to inner ear anomalies (1,2). Anomalies of the inner ear can be diagnosed by imaging studies and often include malformations of the cochlea, the human hearing organ (3,4). While many genes involved in cochlear development have been reported in mice, mutations in very few have been shown to cause cochlear malformations in humans; thus, their roles in human cochlear development remain unknown.…”

Section: Introductionmentioning

confidence: 99%

FOXF2is required for cochlear development in humans and mice

Bademci

Abad

İncesulu

et al. 2018

Human Molecular Genetics

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Molecular mechanisms governing the development of the human cochlea remain largely unknown. Through genome sequencing, we identified a homozygous FOXF2 variant c.325A>T (p.I109F) in a child with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is not found in public databases or in over 1000 ethnicity-matched control individuals. I109 is a highly conserved residue in the forkhead box (Fox) domain of FOXF2, a member of the Fox protein family of transcription factors that regulate the expression of genes involved in embryogenic development as well as adult life. Our in vitro studies show that the half-life of mutant FOXF2 is reduced compared to that of wild type. Foxf 2 is expressed in the cochlea of developing and adult mice. The mouse knockout of Foxf 2 shows shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Expressions of Eya1 and Pax3, genes essential for cochlear development, are reduced in the cochleae of Foxf 2 knockout mice. We conclude that FOXF2 plays a major role in cochlear development and its dysfunction leads to SNHL and developmental anomalies of the cochlea in humans and mice.

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Section: Introductionmentioning

confidence: 99%

FOXF2is required for cochlear development in humans and mice

Bademci

Abad

İncesulu

et al. 2018

Human Molecular Genetics

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“…Adibelli et al () came out with a new way of classifying cochlear malformation types using INCAV system covering all the inner‐ear structures ( I nternal auditory canal, cochlear N erve, Cochlea, vestibular A queduct, and V estibule) using the MRI. Applying INCAV system in our study was not possible due to the availability of HRCT only from which the detection of cochlear nerve is not possible.…”

Section: Discussionmentioning

confidence: 99%

“…Though these 2D images and histological slices are educational in the identification of various malformation types, nothing related to the cochlear dimensions and 3D images were reported in that study. Adibelli et al (2017) came out with a new way of classifying cochlear malformation types using INCAV system covering all the inner-ear structures (Internal auditory canal, cochlear Nerve, Cochlea, vestibular Aqueduct, and Vestibule) using the MRI. Applying INCAV system in our study was not possible due to the availability of HRCT only from which the detection of cochlear nerve is not possible.…”

Section: Figures 3-5 Andmentioning

confidence: 99%

Variations in the Size and Shape of Human Cochlear Malformation Types

Dhanasingh

2019

The Anatomical Record

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The objective of this study is to determine the variations in size and shape of the most widely recognized cochlear malformation types using three‐dimensional (3D) visualization. Using 3D slicer freeware, the complete inner‐ear structures were segmented from 46 anonymized high‐resolution computed tomography (HRCT) image datasets. Cochlear height, internal auditory canal height, and width were measured from the axial plane. Cochlear basal turn diameter was measured from the oblique coronal plane. Number of cochlear turns was measured from the 3D images and the corresponding cochlear duct length (CDL) was estimated using the CDL equations given in Alexiades et al. [Otol Neurotol 36 (2015) 904–907]. Out of 46 preoperative HRCT image datasets of human temporal bone, cochlear anatomy types including normal anatomy (4), enlarged vestibular aqueduct syndrome (3), cochlear aplasia (2), incomplete partition Types I (8), II (Mondini's deformity) (3), and III (X‐linked) (4), cochlear hypoplasia (CH) (17), and common cavity (CC) (5) were identified. Majority of CH cases had cochlear height shorter than 4 mm whereas the CC cases measured cochlear height above 6 mm. For all the other malformation types, cochlear height was between 4 and 6 mm. In terms of “A” value, majority of CH cases showed shorter “A” value of <7.5 mm, which is in the lower end in comparison to the rest of the malformation types reported in this study. 3D‐visualization shows the size and shape variations of all the structures of inner ear and also improves the clinicians' ability to visualize cochlear anatomy and nearby structures much easier than from the 2D image slices. Anat Rec, 302:1792–1799, 2019. © 2019 The Author. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association for Anatomy

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“…The other structures of the otic capsule may also be affected. Semicircular canals (SCCs) can be either normal or dysplastic [1,4,5] and IAC can be normal, enlarged, or atretic [6]. The vestibular aqueduct is usually normal [1,3].…”

Section: Introductionmentioning

confidence: 99%

Incomplete Partition type I: Radiological Evaluation of the Temporal Bone

Parlak¹,

Karaosmanoglu²,

Arslan³

et al. 2021

Acta Medica

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Objective: Incomplete partition type I is an uncommon congenital anomaly of the inner ear, characterized by typical cystic cochleovestibular appearance. Incomplete partition type I was firstly defined as cystic cochlea and vestibule without large vestibular aqueduct; however, large vestibular aqueduct and/or enlarged endolymphatic duct could rarely be seen in incomplete partition type I anomaly. Correct diagnosis of the type of cochlear malformation and differentiation of incomplete partition type I is necessary for patient management and surgical approach. Our aim was to document the temporal bone imaging findings in a series of patients with incomplete partition type I. Materials and Methods: CT (n=85) and/or MRI (n=80) examinations of 99 ears in 59 incomplete partition type I patients were retrospectively evaluated. All structures of the otic capsule were retrospectively assessed. The appearances of cochlea and vestibule, vestibular aqueduct/endolymphatic duct, semicircular canals were qualitatively evaluated by an experienced neuroradiologist. The vertical dimension of vestibular aqueduct and/or endolymphatic duct (from the point where the duct arises from the vestibule) was measured on CT/MRI. Anterior-posterior diameter of the internal acoustic canal and the diameter of cochlear aperture were measured on CT. The cochleovestibular nerves were evaluated on sagittal-oblique high T2-weighted imaging. Results: All 99 ears had defective partition with unpartitioned cochlear basal turn and absent interscalar septae, separated but cystic cochlea. The vestibule was enlarged in all ears except one. Semicircular canals were usually dysplastic (92.9%). A total of 35 incomplete partition type I ears (35.3%) had large vestibular aqueduct and/or enlarged endolymphatic duct. Internal acoustic canal was wide in 21% of ears. Cochlear aperture was wide in 5.9% of ears. Cochlear nerve was either hypoplastic or aplastic in about a quarter of incomplete partition type I ears. Conclusion: In up to one-third of incomplete partition type I patients, an associated large vestibular aqueduct /endolymphatic duct could be seen accompanying typical inner ear findings. Although the cochlear nerves are normal in the majority of cases, auditory brainstem implantation may be necessary in certain cases of incomplete partition type I anomaly.

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The new classification system for inner ear malformations: the INCAV system

Abstract: Among these 43 patients, there were six normal (INCAV) and 80 inner ear malformations. All of the ears were defined successfully by the INCAV system.

Cited by 21 publications

References 15 publications

FOXF2is required for cochlear development in humans and mice

FOXF2is required for cochlear development in humans and mice

Variations in the Size and Shape of Human Cochlear Malformation Types

Incomplete Partition type I: Radiological Evaluation of the Temporal Bone

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