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Objective: to report the first case series of Brazilian children diagnosed with Kleefstra syndrome, present a possible phenotype expansion to the syndrome and to raise physicians' awareness for this rare disease., Results: seven patients with confirmed KS were evaluated, including 5 males and 2 females. Abnormal prenatal findings were observed in 4 patients. Most patients were born at term, with normal birth measurements. All patients had neurodevelopmental delay and 6 evolved with intellectual disability. Hearing loss was present in 57.1% of patients and 28.7% had congenital heart disease. In males, cryptorchidism was present in 75%. Despite the facial dysmorphisms, only 2 out of 7 patients had a pre-test clinical suspicion of KS. One specific patient presented bilateral agenesis of the semicircular canals, a very rare ear manifestation in Kleefstra syndrome, representing a possible phenotype expansion of the syndrome., Conclusion: this report aims to promote awareness among physicians evaluating patients in a context of neurodevelopmental delay or congenital malformations, especially congenital heart defects. We also highlight a possible phenotype expansion of the syndrome, with a case of semicircular anomaly, not reported in this syndrome so far., Competing Interests: Declaration of competing interest nothing to declare., (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

Objectives: The aim of our study to contribute to the field of morphometrics by including measurements of the SAC and SAF and their distances from surrounding structures, particularly for surgeons involved in retrosigmoid approach for internal acoustic meatus tumor surgery and cerebellopontine angle surgery. Although there is limited information in the literature regarding the role of the subarcuate fossa (SAF) and subarcuate canal (SAC), it has been suggested that the SAC may be a potential pathway for infection from the middle ear to the posterior cranial fossa, and cerebellar abscesses may have this origin., Methods: For the images of our study, computerized tomography images of 118 individuals (59 females and 59 males) between the ages of 18-65 who applied to Bayındır Health Group., Results: The width of the cranial opening of the subarcuate canal was determined as 44 ± 0.54 mm, width of the labyrinth opening of the subarcuate canal was determined as 60 ± 0.42 mm, Length of the subarcuate canal was determined as 8.79 ± 2.31 mm, width of the subarcuate canal was determined as 5.54 ± 1.75 mm, and depth of subarcuate fossa was determined as 1.67 ± 0.69 mm. The distance of the cranial opening of the subarcuate canal to the superior semicircular canal (SSC-SAC/C) was measured as 5.33 ± 1.81 mm, The distance of the labyrinth opening of the subarcuate canal to the superior semicircular canal (SSC-SAC/L) was measured as 3.90 ± .98 mm, length of the petrous part of the temporal bone medial to the anterior semicircular canal measured from the apex to the SSCD (PLM) was measured as 33.56 ± 0.42 mm. No statistically significant differences were found between the right and left sides., Conclusions: The morphometric measurements obtained in this study can provide useful information for neurosurgeons, neurotologist and otolaryngologists involved in retrosigmoid approach for internal acoustic meatus tumor surgery and cerebellopontine angle surgery, and for patients undergoing cochlear implant planning with a retrofacial approach., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Superior Semicircular Canal Dehiscence (SSCD) is a recently-defined developmental defect may be associated with several craniofacial anomalies such as Cleft Lip/Palate (CLP). The present study aimed to compare subjects with unilateral and bilateral CLP and normal controls in terms of Superior Semicircular Canal (SSC) bone thickness and pattern., A total of 238 Cone Beam Computed Tomography (CBCT) images were collected from 52 unilateral Cleft Lip and Palate (UCLP) subjects (104 temporal bones) and 38 Bilateral Cleft Lip and Palate (BCLP) (76 temporal bones) subjects and 148 healthy controls (296 temporal bones). The SSC bone thickness was measured twice and validated by a maxillofacial radiologist. The samples were then classified into five categories based on bone thickness: papyraceous or thin, normal, thick, pneumatized, and dehiscence. After all, the UCLP, BCLP, and normal control groups were compared concerning the SSC pattern and thickness., The results revealed no significant difference among the three groups regarding the SSC pattern and thickness based on gender. The SSC patterns ( P value = .001) and SSC thickness (0.01) were strongly correlated to the cleft type. The thinnest bone thickness and the highest incidence of SSCD were observed among the subjects with BCLP., The results showed a significant association between the SSC patterns and SSC thickness and the study groups., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: To investigate the vestibular endolymphatic hydrops in patients with semicircular canal malformation., Methods: We searched 7864 patients who underwent MR Imaging after contrast injection and found 21 patients with semicircular canal malformations. Another 9 non-malformed patients with unilateral hearing loss were randomly included. We asked patients about their medical history and measured the volume of total vestibular fluid space and endolymphatic space. The vestibular volume ratio = endolymphatic space/total fluid space × 100., Results: Hearing loss was observed in 18 of 30 malformed ears and in 7 of 12 non-malformed ears. Statistical analysis showed no association between semicircular canal malformation and hearing loss. In the semicircular canal malformation group, the average vestibular volume ratio (22.6%) in the ears with hearing loss was higher than that in the ears without hearing loss (11.4%). There was no statistically significant difference in the average vestibular %EL in ears with hearing loss between the malformed inner ear group (22.6%) and non-malformed group (28.2%) (P>0.05)., Conclusion: There was no correlation between semicircular canal malformation and hearing loss. The mean vestibular hydrops volume ratio of the semicircular canal deformed ears with hearing loss was about 22.6%, which was not different from that of normal ears., Competing Interests: Declaration of Competing Interest The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (Copyright © 2023. Published by Elsevier B.V.)

Objective: To identify inner and middle ear anomalies in children with 22q11.2 deletion syndrome (22q11DS) and determine associations with hearing thresholds., Study Design: Retrospective study., Setting: Two tertiary care academic centers., Methods: Children presenting with 22q11DS between 2010 and 2020 were included. Temporal bone imaging with computed tomography or magnetic resonance imaging was reviewed by 2 neuroradiologists., Results: Twenty-two patients (12 female, 10 male) were identified. Forty-four ears were evaluated on imaging. There were 15 (34%) ears with abnormal semicircular canals, 14 (32%) with abnormal vestibules, 8 (18%) with abnormal ossicles, 6 (14%) with enlarged vestibular aqueducts, 4 (9.1%) with abnormal facial nerve canals, and 4 (9.1%) with cochlear anomalies. There were 25 ears with imaging and audiometric data. The median pure tone average (PTA) for ears with any structural abnormality was 41.0 dB, as compared with 28.5 dB for ears without any structural abnormality (P = .21). Of 23 ears with normal imaging, 6 (26%) had hearing loss in comparison with 13 (62%) of 21 ears with abnormalities (P = .02). Total number of anomalies per ear was positively correlated with PTA (Pearson correlation coefficient, R = 0.479, P = .01). PTA was significantly higher in patients with facial nerve canal anomalies (P = .002), vestibular aqueduct anomalies (P = .05), and vestibule anomalies (P = .02)., Conclusions: Semicircular canal, ossicular, vestibular aqueduct, and vestibular anomalies were detected in children with 22q11DS, especially in the setting of hearing loss. Careful evaluation of anatomic anomalies is needed prior to surgical intervention in these patients., (© 2022 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Background: Central lucency of the bony island of the lateral semicircular canal (LSCC) is commonly found in patients with congenital severe-to-profound sensorineural hearing loss (SNHL)., Objective: Exploring the significance of bony island lucency of LSCC in congenital severe-to-profound SNHL patients., Material and Methods: Retrospective measurements of the inner ear structures were made on axial temporal bone CT scans from 182 (364 ears) congenital severe-to-profound SNHL patients and 50 (100 ears) tympanic membrane perforation (TMP) patients., Results: The incidence of bony island lucency of LSCC was 46.7% in the congenital severe-to-profound SNHL group and 0% in the TMP group. There was a statistically significant difference in inner ear structures among congenital severe-to-profound SNHL patients with normal inner ear structure and bony island lucency of LSCC, congenital severe-to-profound SNHL patients with normal inner ear structure and no bony island lucency of LSCC, and TMP patients. The importance of the bony island lucency of LSCC was further confirmed through multiple linear regression analysis., Conclusions and Significance: Bony island lucency may have significance in congenital severe-to-profound SNHL and may be a manifestation of largely overlooked SCC malformation or hypoplasia of the inner ear.

Objective: To examine the effect of vestibular ocular reflex on gross motor development in children with semicircular canal aplasia and hypoplasia., Study Design: Case series., Materials and Methods: Children with congenital hearing loss underwent temporal bone computed tomography to assess their inner ear morphology. In this study, we examined eight children with bilateral complete aplasia of semicircular canals and seven children with bilateral hypoplasia of semicircular canals. Their vestibular ocular reflex was assessed using a damped rotational chair test. Their gross motor development was assessed by examining their ages of acquisition of head control and independent walking., Results: All eight children with semicircular canal aplasia were diagnosed as having CHARGE syndrome and five children were found to have CHD7 mutations. Cochlear morphological examination showed that cochlear hypoplasia type III was the most common in eight of 16 ears in children with semicircular canal aplasia. In semicircular canal hypoplasia, incomplete partition type II was found in seven of 14 ears. All eight children with semicircular canal aplasia showed no response in the damped rotational chair test. Even the three children followed up were unresponsive in all tests. In the group with semicircular canal hypoplasia, three children showed normal responses, one child showed no response, and three children showed poor responses. The mean age of acquisition of head control was 9.1 ± 6.3 months and that of independent walking was 31 ± 8.1 months in children with semicircular canal aplasia. The mean age of acquisition of head control was 6.0 ± 2.8 months and that of independent walking was 19.9 ± 4.9 months in children with semicircular canal hypoplasia., Conclusions: We found that children with semicircular canal aplasia have severe dysfunction of the vestibular ocular reflex, and vestibular sensory cells derived from the semicircular canal may not be present. Semicircular canal hypoplasia is associated with dysfunction of the vestibular ocular reflex, but vestibular sensory cells may be present, and rotary nystagmus develops with growth similar to that observed in normal children previously reported. Semicircular canal aplasia is associated with CHARGE syndrome, and affected children tended to have a slower gross motor development. It was suggested that the combination of visual impairment and mental retardation may delay the development of central-level integrated functions and may further delay motor development., Competing Interests: Declaration of competing interest We have no conflict(s) of interest to declare., (Copyright © 2022. Published by Elsevier B.V.)

Congenital deformities of the labyrinth of the inner ear may be associated with an increased risk of infection and varying degrees of otologic and vestibular dysfunction. Lateral semicircular canal abnormalities specifically can be associated with either normal hearing or hearing loss (conductive or sensorineural). In our patient, the acute symptoms of vertigo and tinnitus coincided with the diagnosis of COVID-19. It is unlikely that the symptomatology was related to the acute infection, even in the face of the underlying congenital abnormality. It has been shown that there is no correlation between the severity of the radiological abnormality and vestibular symptomatology in patients with isolated abnormalities of the semicircular canals. The abnormality can be asymptomatic.

Background: Dizziness is not a common symptom in the lateral semicircular canal (LSCC) dysplasia, and nystagmus findings has been rarely described in LSCC dysplasia., Objective: To investigate the characteristics of spontaneous and positional nystagmus in patients with LSCC dysplasia., Methods: Patterns of spontaneous and positional nystagmus of twelve patients with LSCC dysplasia, who visited our clinic with a chief complaint of dizziness, were investigated., Results: LSCC dysplasia was observed unilaterally in 4, and bilaterally in 8 patients. Non-rotatory dizziness with various onset times was the most common description of dizziness, and unilateral caloric weakness was observed in 82% of patients. Direction-fixed nystagmus, in which the direction of spontaneous nystagmus was same with that of positional nystagmus, was observed in 9 patients, and direction-changing positional nystagmus, in which the direction of nystagmus was changed from that of spontaneous nystagmus by positioning maneuvers, was observed in 3 patients, of whom down-beating or direction-changing spontaneous nystagmus was observed in one patient each., Conclusion: While direction-fixed horizontal nystagmus is the most commonly observed type of nystagmus in LSCC dysplasia, atypical spontaneous nystagmus, such as down-beating nystagmus or direction-changing spontaneous nystagmus, may be observed in patients with bilateral LSCC dysplasia.

Objectives: This paper attempts to create a new classification type of cochlear hypoplasia (CH)-type malformation taking into consideration of vestibular section and internal auditory canal (IAC)., Materials and Methods: Preoperative computed-tomography (CT) scans of cochlear implant (CI) candidates (N=31) from various clinics across the world with CH type malformation were taken for analysis. CT dataset were loaded into 3D-slicer freeware for three-dimensional (3D) segmentation of the inner-ear by capturing complete inner-ear structures from the entire dataset. Cochlear size in terms of diameter of available cochlear basal turn and length of cochlear lumen was measured from the dataset. In addition, structural connection between IAC and cochlear portions was scrutinized, which is highly relevant to the proposed CH classification in this study., Results: CH group-I has the normal presence of IAC leading to cochlear and vestibular portions, whereas CH group-II is like CH group-I but with some degree of disruption in vestibular portion. In CH group-III, a disconnection between IAC and the cochlear portion irrespective of other features. Within all these three CH groups, the basal turn diameter varied between 3.1 mm and 9.6 mm, and the corresponding cochlear lumen length varied between 3 mm and 21 mm for the CI electrode array placement., Conclusion: A new classification of CH mainly based on the IAC connecting the cochlear and vestibular portions is presented in this study. CI electrode array length could be selected based on the length of the cochlear lumen, which can be observed from the 3D image.

Objective: This study aimed to evaluate the association between cochlear nerve canal dimensions and semicircular canal abnormalities and to determine the distribution of bony labyrinth anomalies in patients with cochlear nerve canal stenosis., Method: This was a retrospective study in which high-resolution computed tomography images of paediatric patients with severe-to-profound sensorineural hearing loss were reviewed. A cochlear nerve canal diameter of 1.5 mm or less in the axial plane was classified as stenotic. Semicircular canals and other bony labyrinth morphology and abnormality were evaluated., Results: Cochlear nerve canal stenosis was detected in 65 out of 265 ears (24 per cent). Of the 65 ears, 17 ears had abnormal semicircular canals (26 per cent). Significant correlation was demonstrated between cochlear nerve canal stenosis and semicircular canal abnormalities (p < 0.01). Incomplete partition type II was the most common accompanying abnormality of cochlear nerve canal stenosis (15 out of 65, 23 per cent)., Conclusion: Cochlear nerve canal stenosis is statistically associated with semicircular canal abnormalities. Whenever a cochlear nerve canal stenosis is present in a patient with sensorineural hearing loss, the semicircular canal should be scrutinised for presence of abnormalities.

Our aim was to investigate the relationship between facial canal dehiscence (FCD) and surgical findings and procedures in patients with cholesteatoma. A total of 186 patients (118 males, 39.2 ± 15 years) who underwent surgery for advanced cholesteatoma between 2013 and 2018 were included in the study. The relationship between FCD and surgical findings was investigated via the surgical registries. The prevalence of FCD was 36.6% (68/186). The prevalence of FCD was 44%, and 13.2% for the patients who underwent canal wall down mastoidectomy (62/141) and canal wall up mastoidectomy (6/45), respectively ( P < .001). Facial canal dehiscence was detected in 73.9% of the 23 patients who had a lateral semicircular canal (LSCC) defect ( P < .001), in 61.9% of 21 patients who had a tegmen tympani defect, and in 58.1% of the 31 patients who had erosion on the posterior wall of the external auditory canal (EAC; P < .05). The prevalence of FCD was 3.1% in patients with isolated incus erosion, 59.1% in patients with erosion of malleus and incus, 60.7% in patients with erosion of stapes suprastructure and incus, and 43.2% in patients with whole ossicular chain deformation ( P < .001). The defects on LSCC, EAC, tegmen tympani, and malleus and incus might be cautionary findings for the presence of FCD during cholesteatoma surgery.

Superior semicircular canal dehiscence is caused by a bone defect on the roof of the superior semicircular canal. The estimated prevalence when unilateral varies between 0.4% and 0.7% and is still unknown when bilateral. Patients may present with audiologic and vestibular symptoms that may vary from asymptomatic to disabling. We report a case of a 72-year-old Caucasian woman presented to otolaryngology department reporting imbalance, bilateral pulsatile tinnitus, hypoacusis while being very sensitive to certain sounds. Physical examination was unremarkable, except for the Rinne test that was negative in both sides. The patient underwent an audiometry revealing a mild bilateral conductive hearing loss. A temporal bone CT scan was performed which evidenced bilateral superior semicircular canal dehiscence. Cervical vestibular evoked myogenic potentials and electrocochleography confirmed diagnosis. Although rare, superior semicircular canal dehiscence shall be considered in conductive hearing loss with vestibular symptoms., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: In the diagnosis of superior semicircular canal dehiscence (SSCD), computed tomography (CT) is the only imaging method. The aims of the study were to show that reformat images are more accurate than standard planes for diagnosis of SSCD and to determine the prevalence of SSCD., Methods: The retrospective review yielded 1309 temporal CTs performed in our radiology department for any reason. Two radiologist interpreted CTs in standard planes collaboratively. Patients with SSCD were reinterpreted in Pöschl and Stenvers planes by 2 radiologists separately., Results: Statistical analysis was made by accepting that 2 radiologists diagnosis were accurate in Pöschl plane. Coronal plane sensitivity 86%, specificity 64%, Stenvers plane sensitivity 96%, and specificity 52% have been found in the mean result of 2 observers (P < 0.001)., Conclusions: In the diagnosis of SSCD, standard and Stenvers planes can cause false-negative and false-positive diagnoses. Interpretation in Pöschl plane can significantly increase sensitivity, specificity, negative, and positive predictive values for diagnosing dehiscence.

Little is known about the role of TBX1 in post-otocyst stages of inner ear development. Here, we report on mice with a missense mutation of Tbx1 that are viable with fully developed but abnormally formed inner ears. Mutant mice are deaf due to an undeveloped stria vascularis and show vestibular dysfunction associated with abnormal semicircular canal formation. We show that TBX1 is expressed in endolymph-producing strial marginal cells and vestibular dark cells of the inner ear and is an upstream regulator of Esrrb, which previously was shown to control the developmental fate of these cells. We also show that TBX1 is expressed in sensory cells of the crista ampullaris, which may relate to the semicircular canal abnormalities observed in mutant mice. Inner ears of mutant embryos have a non-resorbed fusion plate in the posterior semicircular canal and a single ampulla connecting anterior and lateral canals. We hypothesize that the TBX1 missense mutation prevents binding with specific co-regulatory proteins. These findings reveal previously unknown functions of TBX1 during later stages of inner ear development., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Objective: Superior semicircular canal dehiscence (SSCD) is caused by a deformity in the arcuate eminence, leading to various vestibular and auditory symptoms that can manifest unilaterally or bilaterally. The aim of the present study was to distinguish the differences in symptoms, treatment options, and outcomes between patients with unilateral and bilateral SSCD., Methods: A retrospective medical record analysis was conducted to identify patients with SSCD treated at a tertiary care center from March 2011 to May 2017. The patient demographic data, preoperative symptom presentation, and postoperative outcomes were extracted. Statistical analyses were performed using IBM SPSS Statistics. Fisher's exact tests were computed to investigate the relationships between binary variables, with a significance level of P < 0.05., Results: A total of 99 patients with SSCD had been treated at our institution from March 2011 to May 2017. Of these 99 patients, 41 (41.4%) had a diagnosis of bilateral SSCD. Of the 41 patients with bilateral SSCD, 27 (65.9%) were women, and the mean age was 53.6 ± 10.9 years (range, 31.7-73.9). The most common presenting symptom was tinnitus (n = 33; 80.4%) and dizziness (n = 33; 80.4%). Previous trauma to the head correlated with a bilateral SSCD presentation (P = 0.04). Trends were reported between female sex and bilateral SSCD [r(35) = 0.32379; P = 0.0506]. Postoperatively, trends were also found, with greater rates of dizziness in patients with bilateral SSCD compared with those with unilateral SSCD (odds ratio, 3.81; P = 0.0659), and less improvement in dizziness (odds ratio, 0.186; P = 0.0627). No other significant differences were found between the symptoms or clinical outcomes and improvements between the bilateral and unilateral cohorts., Conclusion: Bilateral SSCD might result in different clinical symptoms that are more prevalent compared with unilateral SSCD. The findings from the present series of patients with bilateral SSCD suggest that patient symptoms and history are important in the diagnosis of bilateral SSCD and deciding whether 1 or both dehiscences requires surgical intervention., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Objectives: (1) Describe common patterns of semicircular canal (SCC) anomalies in CHARGE syndrome (CS) and (2) recognize that in CS, the architecture of the superior SCC may be relatively preserved., Study Design: This is a retrospective review of temporal bone imaging studies., Setting: Quaternary care center., Subjects and Methods: A sample of 37 patients with CS. All subjects met clinical diagnostic criteria for CS. The presence/absence of anomalies of the middle ear, mastoid, temporal bone venous anatomy, inner ear, and internal auditory canal was recorded. Anomalies of each SCC were considered separately and by severity (normal, dysplasia, aplasia)., Results: Thirty-seven subjects (74 temporal bones) were reviewed. Thirty-four (92.0%) patients demonstrated bilateral SCC anomalies. Three (8.0%) had normal SCCs. In patients with SCC anomalies, all canals demonstrated bilateral abnormalities. Thirty-two (86.5%) patients had bilateral horizontal SCC aplasia. These 32 patients also demonstrated posterior SCC aplasia in at least 1 ear. Of 74 temporal bones, 37 (50.0%) had superior SCC dysplasia. All dysplastic superior SCCs showed preservation of the anterior limb. Complete superior SCC aplasia was found in 28 (37.8%) temporal bones., Conclusion: SCC anomalies occur with high frequency in CS. Complete absence of the horizontal and posterior canals is typical and usually bilateral. By contrast, the superior SCC often demonstrates relative preservation of the anterior limb.

Objectives: Lateral semicircular canal (LSCC) malformations  are one of the most common inner ear malformations. The purpose of this study is to analyze the prevalence and type of hearing losses associated with LSCC malformations, compared to a control group., Materials and Methods: We retrospectively included 109 patients (166 ears) presenting with a CT-confirmed LSCC malformation, compared to a control group (24 patients). The bony island surface and the width of the inner portion of the LSCC were measured to confirm the malformation. There results were correlated to audiogram data: sensorineural (SHNL), mixed (MHL) or conductive hearing loss (CHL) by an otologist., Results: In the LSCC group, 60.9% of patients presented with an audiogram-confirmed hearing loss, especially SNHL (39.2%, n = 65) and MHL (12.7%, n = 21). Hearing was normal in 39.2% (n = 65) of the cases. Bilateral LSCC malformations (n = 57) were frequently associated with hearing loss (80.7%), SNHL in most of the cases (33.3%). Unilateral LSCC malformations were associated with hearing alterations (51.9%, n = 27), but we also observed a high rate (81%, n = 42) of contralateral abnormalities of the audiogram., Conclusion: LSCC malformations are commonly associated with hearing loss (61%), especially SHNL (39%). The high rate (81%) of contralateral hearing disturbances in unilateral LSCC malformations should be taken into account in the patient's daily life to avoid triggering or exacerbating any hearing loss. Otologists and radiologists must cooperate to ensure that all malformations are correctly described on CT, especially to improve the patient's education regarding hearing preservation.

Background: Dissociation between caloric and head impulse test results in patients with vestibular disorders has been well documented since the introduction of video head impulse testing. Prior to the introduction of video head impulse testing, vestibular diagnostic services relied mainly on caloric testing, and it is now known that the caloric testing shows more positive results than video head impulse testing. A dissipation model was proposed to explain this dissociation.Case reportsThis paper presents two cases in which caloric testing indicated an absent or significantly reduced response on the horizontal semicircular canal plane but video head impulse testing showed near-normal or normal vestibulo-ocular reflex gain on the same plane., Conclusion: This report supports the dissipation theory and questions the functional relevance of canal paresis values calculated from caloric test results.

Literature describes that on the 25th gestational week the labyrinth is fully formed and with adult size. However, recent studies have shown that the cranial and labyrinth development continues until 3 years of age., Objectives: To demonstrate through tomographic study the frequency of semicircular canal dehiscence on nine specimens of stillbirths between 32 and 40 weeks and, through literature review, present another possible etiology for its cause., Methods: Tomographic study of the temporal bone of 9 specimens of stillbirths between 32 and 40 weeks., Results: A frequency of 88.89% of alterations were found in our study, with 44% presenting bilateral alterations and 44% unilateral alteration; 11.11% had no dehiscence., Conclusion: The tomographic study showed superior semicircular canal dehiscence (SSCD) in 88% of the specimens studied, protrusion of the superior semicircular canal (SSC) in all fetuses, and an enlarged SSC that may be caused by the expansion process provoked by the subarcuate artery entering the subarcuate canaliculus, leading to SSCD.

Internal auditory canal anomalies are rare. Narrow internal auditory canal is believed to occur as a result of aplasia or hypoplasia of the vestibulocochlear nerve. Narrow duplication of the internal auditory canal is considered to be very rare. Narrow duplication of the internal auditory canal with inner ear malformation has been reported in only 3 cases. We present 2 cases of narrow duplication of the internal auditory canal with inner ear malformation. The first case had inner ear malformation on only one side and the second case had inner ear malformation on both sides. The embryogenesis may be different between internal auditory canal and inner ear., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Objective: This study aimed to evaluate the efficacy of magnetic resonance imaging (MRI) for diagnosing superior semicircular canal dehiscence (SSCD)., Materials and Methods: The radiological records of patients who were admitted to our clinic with complaints of otologic and neuro-otologic symptoms between October 2014 and December 2015 were retrospectively reviewed. Among these patients, those who underwent both computed tomography and MRI and were reported to have SSCD in the temporal bone on at least one side were included in the study group. MRI records of patients with a confirmed diagnosis were then assessed for the presence of SSCD., Results: The left and right semicircular canals of 52 patients were evaluated in this study. The sensitivity and specificity of MRI in the diagnosis of SSCD was 89.06% and 90%, respectively. The positive and negative predictive values were 93.44% and 83.72%, respectively., Conclusion: The use of multiplanar reformats and angulation techniques during MRI assessment of patients with neuro-otologic symptoms can improve the diagnostic process for patients with SSCD. This may allow early diagnosis of the disease by using just one imaging method, which would also reduce the costs per patient during the diagnosis period.

Superior canal dehiscence is a pathologic condition of the otic capsule acting as aberrant window of the inner ear. It results in reduction of inner ear impedance and in abnormal exposure of the labyrinthine neuroepithelium to the action of the surrounding structures. The sum of these phenomena leads to the onset of typical cochleo-vestibular symptoms and signs. Among them, pulsatile tinnitus has been attributed to a direct transmission of intracranial vascular activities to labyrinthine fluids. We present the first video-otoscopic documentation of spontaneous pulse-synchronous movements of the tympanic membrane in two patients with superior canal dehiscence. Pulsating eardrum may represent an additional sign of third-mobile window lesion., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Purpose: The goal of this retrospective study was to investigate the differential diagnosis of endolymphatic hydrops in patients with Meniere's disease (MD) symptoms by using magnetic resonance imaging (MRI) with intravenous injection of gadolinium chelate and delayed acquisition., Material and Method: Two hundred patients (133 women, 67 men; mean age=67.2±11 ([SD] years) with unilateral MD underwent MRI at 3-T, between 4.5 and 5.5hours after intravenous administration of gadoterate meglumine at a dose of 0.1mmol/kg. MR images were analyzed for the presence of saccular hydrops, perilymphatic fistulae, inner ear malformations, semicircular canal (SCC) abnormal enhancement and brain lesions. We also tested the potential relationship between past history of gentamicin intratympanic administration and perilymphatic fistula presence and SCC aspect., Results: Saccular hydrops were found in 96/200 patients with MD (48%). Three patients (1.5%) had perilymphatic fistulas associated with saccular hydrops, as confirmed by surgery. There was a correlation between the presence of perilymphatic fistula and past history of intratympanic gentamicin administration (P=0.02). We detected inner ear malformations in 5 patients (2.5%), SCC local enhancement in 15 patients (7.5%) always on the same side than the clinical symptoms of MD. There was a correlation between the presence of SCC abnormal enhancement and past intratympanic gentamicin administration (P=0.001). Five patients (2.5%) had brain lesions along central cochleovestibular pathways., Conclusion: MRI may reveal brain lesions, SCC abnormalities and perilymphatic fistulae in patients with clinical MD., (Copyright © 2017 Editions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.)

Importance: Superior canal dehiscence syndrome (SCDS) is an increasingly recognized cause of hearing loss and vestibular symptoms, but the etiology of this condition remains unknown., Objective: To describe 7 cases of SCDS across 3 families., Design, Setting, and Participants: This retrospective case series included 7 patients from 3 different families treated at a neurotology clinic at a tertiary academic medical center from 2010 to 2014. Patients were referred by other otolaryngologists or were self-referred. Each patient demonstrated unilateral or bilateral SCDS or near dehiscence., Interventions: Clinical evaluation involved body mass index calculation, audiometry, cervical vestibular evoked myogenic potential testing, electrocochleography, and multiplanar computed tomographic (CT) scan of the temporal bones. Zygosity testing was performed on twin siblings., Main Outcomes and Measures: The diagnosis of SCDS was made if bone was absent over the superior semicircular canal on 2 consecutive CT images, in addition to 1 physiologic sign consistent with labyrinthine dehiscence. Near dehiscence was defined as absent bone on only 1 CT image but with symptoms and at least 1 physiologic sign of labyrinthine dehiscence., Results: A total of 7 patients (5 female and 2 male; age range, 8-49 years) from 3 families underwent evaluation. Family A consisted of 3 adult first-degree relatives, of whom 2 were diagnosed with SCDS and 1 with near dehiscence. Family B included a mother and her child, both of whom were diagnosed with unilateral SCDS. Family C consisted of adult monozygotic twins, each of whom was diagnosed with unilateral SCDS. For all cases, dehiscence was located at the arcuate eminence. Obesity alone did not explain the occurrence of SCDS because 5 of the 7 cases had a body mass index (calculated as weight in kilograms divided by height in meters squared) less than 30.0., Conclusions and Relevance: Superior canal dehiscence syndrome is a rare, often unrecognized condition. This report of 3 multiplex families with SCDS provides evidence in support of a potential genetic contribution to the etiology. Symptomatic first-degree relatives of patients diagnosed with SCDS should be offered evaluation to improve detection of this disorder.

Objective: To discuss the possible reasons for cerebrospinal fluid (CSF) gusher in cochlear implantation (CI) with inner ear abnormality. Method: A retrospective analysis was performed on 340 cases who underwent CI from January 2013 to December 2016 in Division of Otology, Otorhinolaryngology Hospital, the First Affiliated Hospital of Zhengzhou University. Among them, 96 cases had inner ear abnormalities. Imaging examinations were performed on these patients, and classification of inner ear malformation was done according to the results. Results: Among the cases with inner ear abnormality, 9.4% (9/96) suffered from CSF gusher during CI. The inner ear abnormalities were found to be as follows: 3 cases had incomplete partition type Ⅰ; 1 case had incomplete partition type Ⅰ with semicircular canal dysplasia; 1 case had common cavity deformity; 1 case had enlarged vestibular aqueducts and common cavity deformity; 2 cases had Mondini deformity. All of these cases had bony defect in the fundus of the internal acoustic meatus observed on CT scans. Another case was type 1 cochlear aqueduct with round window aplasia. Conclusions: Defects in the modiolus or fundus of the internal acoustic meatus is the main reason for CSF gusher during CI. A patent cochlear aqueduct is another possible reason.

Importance: CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome., Objective: To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition., Design, Setting, and Participants: We performed a medical chart review of patients with CHARGE syndrome and reviewed their temporal bone imaging studies at a tertiary care children's hospital affiliated with Washington University in St Louis. Two authors independently reviewed each imaging study (A.W. and K.H.). Radiologic studies, physical findings, genetic tests, and other diagnostic tests were included. Patients with no temporal bone imaging studies were excluded., Results: Eighteen children were included in this study; 13 children (72%) were male, and the mean (median; range) age of patients at the time of inner ear imaging studies was 2 years (4.5 years; 8 months to 8 years). Coloboma was present in 13 patients (72%) and choanal atresia in 5 (28%); semicircular canal anomalies were present in all patients. Additionally, 13 patients (72%) were diagnosed as having hindbrain anomalies, 17 (94%) as having endocrine disorders, 17 (94%) as having mediastinal organ malformations, and all as having middle or external ear abnormalities and development delay. Cleft lip and cleft palate were found in 6 of 14 patients (43%) who did not have choanal atresia. We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive., Conclusions and Relevance: Semicircular canal anomalies were the most consistent finding in our patients with CHARGE syndrome. Given the high prevalence of semicircular canal hypoplasia and importance of imaging for diagnosing CHARGE syndrome, we propose changing the term CHARGE syndrome to 3C syndrome to emphasize the importance of the semicircular canals and to recall the 3 major criteria for diagnosis: coloboma, choanal atresia, and semicircular canal anomaly. The nomenclature would also reference the 3 semicircular canals in each ear. This new name for CHARGE syndrome would provide a mnemonic and focus the disease on the most important clinical criteria for diagnosis.

Objective: To review the difficulties that can occur during cochlear implant surgery in patients with inner ear abnormalities and the management thereof., Methods: A retrospective chart review of 316 patients who received cochlear implants was conducted. The data collected included the types of inner ear anomalies, intraoperative findings, and the clinical management strategies. A review of the literature was also performed., Results: A total of 24 patients with inner ear malformations who underwent 28 total cochlear implant procedures were identified. The anomalies included isolated large vestibular aqueducts in 8 (33.3%) patients, isolated semicircular canal dysplasia in 8 (33.3%) patients, classical Mondini malformation in 7 (29.1%) patients, and cochlear hypoplasia in 1 (4.1%) patient. Four (14.2%) patients exhibited intraoperative cerebrospinal fluid (CSF) gushers. One patient experienced delayed facial nerve paralysis, and an electrode was partially inserted into one patient. In 2 (7.14%) cases, the surgeries were aborted because of difficulties., Conclusion: Cochlear implantation for inner ear anomalies can be performed safely. Special attention should be given to preoperative imaging to anticipate the potential intraoperative risks that can occur in inner ear anomaly cases. Every surgery should be planned with a safe approach and specific requirements, e.g., regarding electrode type, and the surgeries must be performed by experienced surgeons who are capable of modifying their technique according to the surgical findings., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

To provide an overview of anomalies of the temporal bone in CHARGE syndrome relevant to cochlear implantation (CI), anatomical structures of the temporal bone and the respective genotypes were analysed. In this retrospective study, 42 CTs of the temporal bone of 42 patients with CHARGE syndrome were reviewed in consensus by two head-and-neck radiologists and two otological surgeons. Anatomical structures of the temporal bone were evaluated and correlated with genetic data. Abnormalities that might affect CI surgery were seen, such as a vascular structure, a petrosquamosal sinus (13 %), an underdeveloped mastoid (8 %) and an aberrant course of the facial nerve crossing the round window (9 %) and/or the promontory (18 %). The appearance of the inner ear varied widely: in 77 % of patients all semicircular canals were absent and the cochlea varied from normal to hypoplastic. A stenotic cochlear aperture was observed in 37 %. The middle ear was often affected with a stenotic round (14 %) or oval window (71 %). More anomalies were observed in patients with truncating mutations than with non-truncating mutations. Temporal bone findings in CHARGE syndrome vary widely. Vascular variants, aberrant route of the facial nerve, an underdeveloped mastoid, aplasia of the semicircular canals, and stenotic round window may complicate cochlear implantation., Competing Interests: All authors declare that they have no conflict of interest. Ethical approval All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent Informed consent was obtained from all individual participants included in the study.

Objective: To determine the relevance between the SOX 10 mutation and Waardenburg syndrome (WS) accompanied with inner ear abnormality by analyzing the inner ear imaging results and molecular and genetic results of the WS patients with the SOX 10 mutation. Methods: This study included 36 WS in patients during 2001 and 2015 in the department of otorhinolaryngology head and neck surgery, Chinese Peoples's Liberation Army General Hospital. The condition of the inner ear of each patient was assessed by analyzing HRCT scans of the temporal bone and MRI scans of the brain and internal auditory canal. Meanwhile, the possible pathogenic genes of WS, including SOX10, MITF , and PAX 3, were also screened. Patients were divided into two groups according to SOX 10 mutation.The Fisher accuracy test was used to determine statistical difference of inner ear deformation incidence between the two groups. Results: Among all 36 patients, 12 were found to have inner ear abnormality. Most abnormalities were posterior semicircular canal deformations, some accompanied with cochlear deformation and an enlarged vestibule. Among all patients, 9 patients were SOX 10 heterozygous mutation carriers, among which six showed bilateral inner ear abnormality. Fisher accuracy test results suggested a significant correlation between the SOX 10 mutation and inner ear abnormality in WS patients ( P =0.036). Conclusion: This study found that WS patients with the SOX 10 mutation are more likely to have deformed inner ears when compared to WS patients without the SOX 10 mutation.

Objective: To determine the optimal surgical approach for cochlear implantation (CI) preoperatively based on the spatial relation of a displaced facial nerve (FN) and middle ear structures and to analyze clinical outcomes of CHARGE syndrome., Methods: Facial nerve displacement and associated deviation of inner ear structures were analyzed in 13 patients (17 ears) with CHARGE syndrome who underwent CI. Surgical accessibility through the facial recess was assessed based on anatomical landmarks. Postoperative speech performance and associated clinical characteristics were analyzed., Results: The most consistently identified ear anomalies were semicircular canal aplasia (100%), ossicular anomaly (100%), and vestibular hypoplasia (88%). Facial nerve displacement was found in 77% of cases (anteroinferior: 47%, anterior: 24%, inferior: 6%). The width of available surgical space around facial recess was significantly greater in cases of facial recess approach (2.85 ± 0.9 mm) than those of alternative approach (0.12 ± 0.29 mm, P = .02). Postoperatively, 53% achieved better than category 4 on the categories of auditory perception (CAP) scale. The CAP category was significantly correlated with internal auditory canal diameter (P = .025) and did not differ according to the applied surgical approach., Conclusion: Preoperative determination of surgical accessibility through facial recess would be useful for safe surgical approach, and successful hearing rehabilitation was achievable by applying appropriate surgical approaches., (© The Author(s) 2016.)

Objectives: To analyze the ontogeny of the superior semicircular canal and tegmen tympani and determine if there are common embryological factors explaining both associated dehiscence., Methods: We analyzed 77 human embryological series aged between 6 weeks and newborn. Preparations were serially cut and stained with Masson's trichrome technique., Results: The tegmental prolongation of tegmen tympani and superior semicircular canal originate from the same structure, the otic capsule, and have the same type of endochondral ossification; while the extension of the squamous prolongation of tegmen tympani runs from the temporal squama and ossification is directly of intramembranous type. The nuclei of ossification of the superior and external semicircular canals and accessory of tegmen collaborate in the ossification of the tegmental extension and by growth extend to the tegmental prolongation. This fact plus the fact that both structures share a common layer of external periosteum could explain the coexistence of lack of bone coverage in tegmen and superior semicircular canal., Conclusion: The development of the semicircular canal and tegmen tympani could explain the causes of the association of both dehiscences., (Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.)

Introduction: Lateral semicircular canal aplasia is a malformation of the inner ear, usually associated with vestibular and cochlear malformations in the context of congenital malformation syndromes. We report a rare case of a young patient with isolated lateral semicircular canal aplasia and no associated vestibular symptoms., Clinical Case Summary: A 20-year-old man with no personal or family history presented with persistent unilateral tinnitus for three years with no associated vestibular symptoms. Moderate unilateral right sensorineural hearing loss was detected. Magnetic resonance imaging demonstrated isolated aplasia of the right lateral semicircular canal. Videonystagmography revealed right hyporeflexia. Vestibular evoked myogenic potentials were absent after stimulation on the right side and normal on the left side., Discussion: Although the morphological abnormalities appeared to be isolated on imaging, the patient presented functional signs of global cochlear, semicircular canal and otolithic lesions, probably related to a developmental disorder of the membranous labyrinth. Functional investigations must be performed in the presence of isolated semicircular canal aplasia, even when it is an incidental finding, to exclude more extensive labyrinthine lesions., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Inner ear bone malformations are one cause of profound sensorineural hearing loss. This investigation focused on those affecting the posterior labyrinth, especially enlarged vestibular aqueduct syndrome, which is associated with fluctuating and progressive hearing loss. The objectives of this study were to analyze the behavior of the electrical stimulation, auditory functionality and linguistic development in patients with inner ear malformations involving the posterior labyrinth. The study included ten patients undergoing cochlear implantation (cases: five with enlarged vestibular aqueduct, two with vestibular aqueduct stenosis/aplasia, and three with semicircular canal disorders). Post-implantation, data were gathered on the electrical stimulation threshold and maximum comfort levels and on the number of functioning electrodes. Evaluation of Auditory Responses to Speech (EARS) subtests were used to assess auditory functionality and language acquisition at 6, 12, and 24 months post-implantation. Results were compared with findings in a control group of 28 cochlear implantation patients without these malformations. No significant differences were found between case and control groups in electrical stimulation parameters; auditory functionality subtest scores were lower in cases than controls, although the difference was only statistically significant for some subtests. In conclusion, cochlear implantation patients with posterior labyrinth bone malformations and profound hearing loss, including those with enlarged vestibular aqueduct syndrome, showed no significant difference in electrical stimulation threshold with controls. Although some auditory functionality test results were lower in cases than in controls, cochlear implantation appears to be beneficial for all patients with these malformations.

Head direction (HD) cells fire when an animal faces a particular direction in its environment, and they are thought to represent the neural correlate of the animal's perceived spatial orientation. Previous studies have shown that vestibular information is critical for generating the HD signal but have not delineated whether information from all three semicircular canals or just the horizontal canals, which are primarily sensitive to angular head rotation in the horizontal (yaw) plane, are critical for the signal. Here, we monitored cell activity in the anterodorsal thalamus (ADN), an area known to contain HD cells, in epstatic circler (Ecl) mice, which have a bilateral malformation of the horizontal (lateral) semicircular canals. Ecl mice and their littermates that did not express the mutation (controls) were implanted with recording electrodes in the ADN. Results confirm the important role the horizontal canals play in forming the HD signal. Although normal HD cell activity (Raleigh's r > 0.4) was recorded in control mice, no such activity was found in Ecl mice, although some cells had activity that was mildly modulated by HD (0.4 > r > 0.2). Importantly, we also observed activity in Ecl mice that was best characterized as bursty--a pattern of activity similar to an HD signal but without any preferred firing direction. These results suggest that the neural structure for the HD network remains intact in Ecl mice, but the absence of normal horizontal canals results in an inability to control the network properly and brings about an unstable HD signal. Significance statement: Cells in the anterior dorsal thalamic nucleus normally fire in relation to the animal's directional heading with respect to the environment--so-called head direction cells. To understand how these head direction cells generate their activity, we recorded single-unit activity from the anterior dorsal thalamus in transgenic mice that lack functional horizontal semicircular canals. We show that the neural network for the head direction signal remains intact in these mice, but that the absence of normal horizontal canals results in an inability to control the network properly and brings about an unstable head direction signal., (Copyright © 2016 the authors 0270-6474/16/360741-14$15.00/0.)

Background: Superior semicircular canal dehiscence (SSCD) is gradually recognized by otologists in recent years. The patients with SSCD have a syndrome comprising a series of vestibular symptoms and hearing function disorders which can be cured by the operation. In this study, we evaluated the characteristics of patients with SSCD and determined the effectiveness of treating this syndrome by resurfacing the canal via the transmastoid approach using a dumpling structure., Methods: Patients with SSCD, confirmed by high-resolution computed tomography and hospitalized at Beijing Tongren Hospital between November 2009 and October 2012, were included in the study. All of the patients underwent the unilateral transmastoid approach for resurfacing the canal, and received regular follow-up after surgery. Data from preoperative medical records and postoperative follow-up were comparatively analyzed to evaluate the effect of surgery., Results: In total, 10 patients and 13 ears (three left ears, four right ears, three bilateral ears) were evaluated in the study, which included 7 men and 3 women. Different symptoms and distinctive manifestations of vestibular evoked myogenic potential were found in these patients. After surgery, 4 patients had complete resolution, 5 had partial resolution, and 1 patient, with bilateral SSCD, had aggravation. None of the patients suffered from serious complications such as sensorineural hearing loss, facial paralysis, cerebrospinal fluid leakage, or intracranial hypertension., Conclusions: In patients with unilateral SSCD, resurfacing the canal via the transmastoid approach using a dumpling structure is an effective and safe technique. However, more consideration is needed for patients with bilateral SSCD.

Objective: To determine if vestibular evoked myogenic potential (VEMP) responses change during inversion in patients with superior canal dehiscence syndrome (SCDS) compared to controls., Methods: Sixteen subjects with SCDS (mean: 43, range 30-57 years) and 15 age-matched, healthy subjects (mean: 41, range 22-57 years) completed cervical VEMP (cVEMP) in response to air conduction click stimuli and ocular VEMP (oVEMP) in response to air conduction 500 Hz tone burst stimuli and midline tap stimulation. All VEMP testing was completed in semi-recumbent and inverted conditions., Results: SCDS ears demonstrated significantly larger oVEMP peak-to-peak amplitudes in comparison to normal ears in semi-recumbency. While corrected cVEMP peak-to-peak amplitudes were larger in SCDS ears; this did not reach significance in our sample. Overall, there was not a differential change in o- or cVEMP amplitude with inversion between SCDS and normal subjects., Conclusions: Postural-induced changes in o- and cVEMP responses were measured in the steady state regardless of whether the labyrinth was intact or dehiscent., Significance: VEMP responses are blunted during inversion. Although steady-state measurements of VEMPs during inversion do not increase diagnostic accuracy for SCDS, the findings suggest that inversion may provide more general insights into the equilibration of pressures between intracranial and intralabyrinthine fluids., (Copyright © 2014 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.)

The site of stimulus delivery modulates the waveforms of cervical- and ocular vestibular-evoked myogenic potentials (cVEMP and oVEMP) to skull taps in healthy controls. We examine the influence of stimulus location on the oVEMP waveforms of 18 patients (24 ears) with superior canal dehiscence (SCD) and compare these with the results of 16 healthy control subjects (32 ears). oVEMPs were recorded in response to taps delivered with a triggered tendon-hammer and a hand-held minishaker at three midline locations; the hairline (Fz), vertex (Cz) and occiput (Oz). In controls, Fz stimulation evoked a consistent oVEMP waveform with a negative peak (n1) at 9.5 ± 0.5 ms. In SCD, stimulation at Fz produced large oVEMP waveforms with delayed n1 peaks (tendon-hammer = 13.2 ± 1.0 ms and minitap = 11.5 ± 1.1 ms). Vertex taps produced diverse low-amplitude waveforms in controls with n1 peaks at 15.5 ± 1.2 and 13.2 ± 1.3 ms for tendon-hammer taps and minitaps, respectively; in SCD, they produced large amplitude oVEMP waveforms with n1 peaks at 12.9 ± 0.8 ms (tendon-hammer) and 12.1 ± 0.5 ms (minitap). Occiput stimulation evoked oVEMPs with similar n1 latencies in both groups (tendon-hammer = 11.3 ± 1.3 and 10.7 ± 0.8; minitap = 10.3 ± 0.9 and 11.1 ± 0.4 for control and SCD ears, respectively). Compared to reflex amplitudes, n1 peak latencies to Fz taps provided clearer separation between SCD and control ears. The distinctly different effects of Fz and vertex taps on the oVEMP waveforms may represent an additional non-osseous mechanism of stimulus transmission in SCD. For skull taps at Fz, a prolonged n1 latency is an indicator of SCD.

CHARGE syndrome is a rare, polymalformative disease, representing one of the major causes of associated blindness and deafness. Bilateral, severe-profound, sensorineural hearing loss is common in CHARGE children. Aim of this study is to present our results in children with "CHARGE syndrome" submitted to cochlear implantation (CI). The frequency of anatomic anomalies, possible variations in the surgical technique of CI, and the audiological/rehabilitative benefits attained in our patients are reported. we submitted 5 children affected by CHARGE syndrome with profound, bilateral, sensorineural hearing loss to CI. Otoacoustic emissions, auditory brainstem response, acoustic impedance testing, cranial computed tomography and magnetic resonance were carried out preoperatively in all children. CI was performed using the mastoidotomy-posterior tympanotomy approach in two cases, and the suprameatal approach in three children. Infant toddler-meaningful auditory integration scale was used to evaluate kid's audiological performance before and after CI. Intra-operatory findings and postsurgical complications were evaluated. Among our patients, intraoperative anatomical malformations were cochlear hypoplasia (100 %), ossicles malformations (100 %), semicircular canals aplasia (100 %), oval window atresia (60 %), round window atresia (40 %), widening of the aqueduct of the vestibule (20 %), and aberrant course of the facial nerve (20 %). No intra- or postoperative complication was recorded in relation to implant positioning. After a follow-up ranging from 1 to 4.5 years, only 2/5 patients used oral language as the sole mean of communication, 1 started utilizing oral language as the main mean of communication, while 2 patients did not develop any linguistic ability. In conclusion, CI in patients with CHARGE association is feasible and, despite results variability, it should be carried out in CHARGE children with severe hearing loss as soon as possible. Although the selection of a specific surgical technique does not seem to influence the audiological outcome, the suprameatal access is valuable when important surgical landmarks (i.e. lateral semicircular canal and incus) are absent.

We report VEMP results in a patient with aplasia of bilateral semicircular canals and a small vestibular cavity. The patient was a 27-year-old male. The computed tomograph showed absolutely no formation of his semicircular canals, together with hypoplasia of his vestibular cavity and cochlea in both ears. His oVEMP was recorded near the extraocular muscles on the left side when elicited by BCV in the Fz. The clinical profile of this patient suggested that oVEMP elicited by BCV recorded near the extraocular muscles originated from otolithic end organs, and not from semicircular canal afferents., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Morphogenesis of the semicircular canal ducts in the vertebrate inner ear is a dramatic example of epithelial remodelling in the embryo, and failure of normal canal development results in vestibular dysfunction. In zebrafish and Xenopus, semicircular canal ducts develop when projections of epithelium, driven by extracellular matrix production, push into the otic vesicle and fuse to form pillars. We show that in the zebrafish, extracellular matrix gene expression is high during projection outgrowth and then rapidly downregulated after fusion. Enzymatic disruption of hyaluronan in the projections leads to their collapse and a failure to form pillars: as a result, the ears swell. We have cloned a zebrafish mutant, lauscher (lau), identified by its swollen ear phenotype. The primary defect in the ear is abnormal projection outgrowth and a failure of fusion to form the semicircular canal pillars. Otic expression of extracellular matrix components is highly disrupted: several genes fail to become downregulated and remain expressed at abnormally high levels into late larval stages. The lau mutations disrupt gpr126, an adhesion class G protein-coupled receptor gene. Expression of gpr126 is similar to that of sox10, an ear and neural crest marker, and is partially dependent on sox10 activity. Fusion of canal projections and downregulation of otic versican expression in a hypomorphic lau allele can be restored by cAMP agonists. We propose that Gpr126 acts through a cAMP-mediated pathway to control the outgrowth and adhesion of canal projections in the zebrafish ear via the regulation of extracellular matrix gene expression.

Objective: To discuss the surgical approach of cochlear implantation in patients with common cavity., Method: Seventeen patients with common cavity underwent cochlear implantations through facial recess approach or transmastoid lateral semicircular canal approach,according to the preoperative imaging and audiological evaluation., Result: Common cavity was opened and electrodes were inserted smoothly in all cases. Facial recess approach was used in 3 patients, while transmastoid lateral semicircular canal approach was used in the others. Intraoperative "gush" occurred in 4 cases. None of the cases developed intraoperative or postoperative complications, such as facial paralysis, meningitis and cerebrospinal fluid leakage. All cases had improvements in hearing. Atypical postoperative EABR responses were detected, the average free filed hearing threshold was 65 dB HL, the average speech recognition score of Chinese vowels was 75%, and the average speech recognition score of Chinese consonant was less than 10%., Conclusion: (1) Selection of surgical approach for patients with common cavity: if the basal turn of cochlear could be distinguished at the posterior tympanum side of common cavity, the facial recess approach was used; if the cochlear,vestibule and the lateral semicircular canal merged to be a spherical cavity, the transmastoid lateral semicircular canal approach was used. (2) Surgical approach of cochlear implantation affected the postoperative outcomes. (3) Outcomes of cochlear implantation in common cavity patients were much poorer than normal cochlear cases.

Introduction: Bilateral semicircular canal aplasia is extremely rare; discovery, when the cochlear-vestibular system is normal and there is no hearing loss, is serendipitous., Case Report: Bilateral semicircular canal aplasia was serendipitously discovered in a 24-year-old male during assessment of unilateral mixed hearing loss with subnormal contralateral hearing. The deformity was isolated, with no associated syndrome., Discussion/conclusion: Incidence of this isolated entity is unknown, but doubtless greatly underestimated due to the absence of associated symptomatology. To the best of our knowledge, this is only the second report of bilateral aplasia of the entire semicircular canal system involving unilateral hearing loss. A review of the literature focuses on the embryological and molecular aspects., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Background and Purpose: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients., Materials and Methods: Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. Imaging was performed between February 2000 and March 2010 for cochlear implant work-up, diagnosis of hearing loss, and/or evaluation of neurologic impairment. Eleven patients had both CT and MR imaging examinations, 3 had MR imaging only, and 1 had CT only., Results: Temporal bone abnormalities were bilateral. The most frequent pattern associated agenesis or hypoplasia of ≥1 semicircular canal, an enlarged vestibule, and a cochlea with a reduced size and occasionally an abnormal shape, but with normal partition in the 13/15 cases that could be analyzed. Three patients lacked a cochlear nerve, bilaterally in 2 patients. In addition, associated abnormalities were found when adequate MR imaging sequences were available: agenesis of the olfactory bulbs (7/8), hypoplastic or absent lacrimal glands (11/14), hypoplastic parotid glands (12/14), and white matter signal anomalies (7/13)., Conclusions: In the appropriate clinical context, bilateral agenesis or hypoplasia of the semicircular canals or both, associated with an enlarged vestibule and a cochlear deformity, strongly suggests a diagnosis of Waardenburg syndrome linked to a SOX10 mutation.

Objective: Radiological and genetic examination has recently advanced for diagnosis of congenital hearing loss. The aim of this study was to elucidate the prevalence of inner-ear and/or internal auditory canal malformations in children with unilateral sensorineural hearing loss (USNHL) for better management of hearing loss and genetic and lifestyle counseling., Methods: We conducted a retrospective study of charts and temporal bone computed tomography (CT) findings of 69 consecutive patients 0-15 years old with USNHL. In two cases, genetic examination was conducted., Results: Of these patients, 66.7% had inner-ear and/or internal auditory canal malformations. The prevalence of malformations in infants (age <1 year) was 84.6%, which was significantly higher than that in children 1-15 years old (55.8%; p<0.01). Almost half of the patients (32; 46.4%) had cochlear nerve canal stenosis; 13 of them had cochlear nerve canal stenosis alone, and in 19 it accompanied other malformations. Internal auditory canal malformations were observed in 22 subjects (31.8%), 14 (20.3%) had cochlear malformations, and 5 (7.2%) had vestibular/semicircular canal malformations. These anomalies were seen only in the affected ear, except in two of five patients with vestibular and/or semicircular canal malformations. Two patients (2.9%) had bilateral enlarged vestibular aqueducts. Mutations were found in SLC26A4 in one of the two patients with bilateral large vestibular aqueducts. The prevalence of a narrow internal auditory canal was significantly higher in subjects with cochlear nerve canal stenosis (50.0%) than in subjects with normal cochlear nerve canals (11.1%; p<0.01). There were no correlations between the type and number of malformations and hearing level., Conclusions: The prevalence of inner-ear and/or internal auditory canal malformations detected by high-resolution temporal bone CT in children with USNHL was very high. Radiological and genetic examination provided important information to consider the pathogenesis and management of hearing loss. Temporal bone CT should be recommended to children with USNHL early in life. SLC26A4 mutation also should be examined in cases with bilateral enlarged vestibular aqueduct., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)

Conclusion: In spite of its absence in the control population, there is questionable evidence for the alteration c.114C->T in the HMX3 gene being implicated in the development of superior semicircular canal dehiscence (SSCD). However, the concept of a complex disease is valid for SSCD and a possible molecular origin can neither be confirmed nor excluded by the results of this study., Objectives: SSCD was first described in 1998 by Minor et al. While the etiology is not clear, findings from both temporal bone CT and histologic studies suggest a congenital or developmental origin. In recent years, a couple of genes regulating inner ear morphogenesis have been described. Specifically, Netrin-1 and HMX3 have been shown to be critically involved in the formation of the SCC. Molecular alterations in these two genes might lead to a disturbed development of this canal and might represent an explanation for SSCD., Methods: DNA was extracted from whole blood of 15 patients with SSCD. The coding sequences of Netrin-1 and HMX3 were amplified by PCR and sequenced., Results: One sequence alteration, heterozygous c.114C->T (conservative change without alteration of amino acid) in exon 1 of HMX3, was detected in 2 of 15 patients but not in 300 control chromosomes. The study was supported in part by the Emilia-Guggenheim-Schnurr-Foundation, Basel, Switzerland.

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity., (Copyright © 2010 Elsevier España, S.L. All rights reserved.)

Proper morphogenesis of inner ear semicircular canals requires precise regulation of cellular proliferation, epithelial-to-mesenchymal transition, and fusion of epithelial plates. Epigenetic regulation of these processes is not well understood, but is likely to involve chromatin remodeling enzymes. CHD7 is a chromodomain-containing, ATP dependent helicase protein that is highly expressed in the developing ear and is required for semicircular canal development in both humans and mice. Here we report that mice with heterozygous loss of Chd7 function exhibit delayed semicircular canal genesis, delayed Netrin1 expression and disrupted expression of genes that are critical for semicircular canal formation (Bmp2, Bmp4, Msx1 and Fgf10). Complete loss of Chd7 results in aplasia of the semicircular canals and sensory vestibular organs, with reduced or absent expression of Otx1, Hmx3, Jagged1, Lmo4, Msx1 and Sox2. Our results suggest that Chd7 may have critical selector gene functions during inner ear morphogenesis. Detailed analysis of the epigenetic modifications underlying these gene expression changes should provide insights into semicircular canal development and help in the design of therapies for individuals with inner ear malformations., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)