Congenital Absence of Stapes Suprastructure and Footplate: A Case Report.

INTRODUCTION: Congenital ossicular chain anomalies are rare conductive hearing loss conditions that remain difficult to diagnose even with high-resolution computed tomography (CT). The preoperative diagnosis is helpful for surgical planning and counseling patients regarding treatment outcomes. CASE PRESENTATION: We report a case involving a 14-year-old boy presenting with left conductive hearing loss without history of trauma for 5 years, physical examination showed normal otoscopic examination bilaterally and high-resolution CT showed absent of stapes suprastructure and footplate. Subsequent diagnosis was done via endoscopic middle ear exploration which revealed an absent long process of the incus, stapes suprastructure and footplate, but with intact oval window membrane. The residual incus was removed, and a tragal perichondrium graft was used over the oval window. A total ossicular replacement prosthesis was placed between the malleus and oval window to repair the chain. Postoperatively, the patient had no complications. Preoperative pure tone average revealed an air/bone result of 52/8 dB. Follow-up after surgery at 6 months showed a pure tone average air/bone result of 15/3 dB. The air-bone gap was reduced from 44 to 12 dB. CONCLUSION: Congenital absence of the stapes suprastructure and footplate remains a rare condition compared to the myriad of middle ear anomalies in the literature.

Persistent Stapedial Artery, Oval Window Atresia and Congenital Stapes Agenesis-Case Report.

Background: The persistent stapedial artery (PSA) is a rare congenital vascular malformation involving the middle ear. It is usually associated with pulsatile tinnitus and/or conductive hearing loss and can account for multiple risks during middle ear surgery. Case Report: we present a case of a 9-year-old male child with conductive hearing loss and persistent stapedial artery in his right ear, who was admitted to our ENT Department for hearing loss. During surgery, we discovered PSA along with congenital stapes agenesis and oval window atresia, as well as an abnormal trajectory of the mastoid segment of the facial nerve. After ossicular reconstruction (transcanal total ossicular replacement prosthesis) with cochleostomy, no surgical complications were recorded and hearing improvement was monitored by pre- and postoperative audiometry. Conclusion: Stapedial artery is a rare anatomical middle ear abnormality that can prevent proper surgical hearing restoration and can be associated with other simultaneous temporal bone malformations.

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.

BACKGROUND: Brachydactyly type B is an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails and can be divided into brachydactyly type B1 (BDB1) and brachydactyly type B2 (BDB2). BDB1 is the most severe form of brachydactyly and is caused by truncating variants in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) gene. CASE PRESENTATION: Here, we report a five-generation Chinese family with brachydactyly with or without syndactyly. The proband and her mother underwent digital separation in syndactyly, and the genetic analyses of the proband and her parents were provided. The novel heterozygous frameshift variant c.1320dupG, p.(Arg441Alafs*18) in the ROR2 gene was identified in the affected individuals by whole-exome sequencing and Sanger sequencing. The c.1320dupG variant in ROR2 is predicted to produce a truncated protein that lacks tyrosine kinase and serine/threonine- and proline-rich structures and remarkably alters the tertiary structures of the mutant ROR2 protein. CONCLUSION: The c.1320dupG, p.(Arg441Alafs*18) variant in the ROR2 gene has not been reported in any databases thus far and therefore is novel. Our study extends the gene variant spectrum of brachydactyly and may provide information for the genetic counselling of family members.

Talocalcaneal Tarsal Coalition Size: Evaluation and Reproducibility of MRI Measurements.

BACKGROUND: The size of talocalcaneal tarsal coalitions (TCCs) is one of the main factors that is thought to influence patient outcomes after resection. Magnetic resonance imaging (MRI) is increasingly being used to diagnose and characterize TCCs. However, there is no reproducible MRI-based measurement of TCC size reported in the literature. The purpose of this study was to create a method to reproducibly measure TCC size using MRI. METHODS: Twenty-seven patients with TCCs diagnosed by a hindfoot coronal proton density (PD) MRI between 2017 and 2020 were included. Five independent raters measured coalition width, healthy posterior facet width, and healthy middle facet width on individual slices of coronal PD hindfoot MRIs using discrete MRI measurement guidelines. Individual slice measurements were summed to determine total size of the coalition and the remaining healthy cartilage of the posterior and middle facets. Inter-rater reliability of MRI measurements between the 5 independent examiners was evaluated using intraclass correlation coefficient (ICC). ICC was calculated for total coalition width, total healthy posterior facet width, total coalition width/total healthy posterior facet width, total coalition width/total healthy middle facet width, total coalition width/total healthy subtalar facet width (posterior facet+middle facet), and total coalition width/total subtalar facet width (coalition+posterior facet+middle facet). RESULTS: The ICC scores for all but one of the MRI measurements indicated good to excellent inter-rater reliability among the 5 examiners. The ICC was 0.932 (95% confidence interval: 0.881-0.966) for measurement of total coalition width/total healthy posterior facet width and 0.948 (95% confidence interval: 0.908-0.973) for measurement of total coalition width/total subtalar facet width (middle+posterior+coalition). CONCLUSIONS: Measurements of coalition size using novel MRI guidelines were reproducible with good to excellent inter-rater reliability. These guidelines allow for determination of TCC size using coronal PD MRI. LEVEL OF EVIDENCE: Level II-diagnostic reproducibility study.

Unexpected Branch Malformation of the Facial Nerve during Stapes Surgery: Comparison between Intraoperative and Radiographic Findings.

The aim of this study was to determine the prevalence of facial nerve (FN) bifurcation in patients who undergo stapes surgery, and to ascertain the correlation between the intraoperative and radiographic findings in cases where an unexpected branch malformation for patients undergoing stapes surgery. Patients who underwent stapes surgery were retroactively examined for confirmed FN bifurcation. Among the 887 patients, 10 had a bifurcated FN confirmed during surgery and had a preoperative high-resolution computed tomography (HRCT) scan. The HRCT scans were examined by two radiologists who were blinded to the operational findings. The diagnostic accuracy of HRCT imaging was examined along with their preoperative audiometry. In total, 887 patients underwent stapes surgery and among them the prevalence of FN bifurcation was 1.13%. These 10 patients had a 1:1 male-female ratio with a mean age of 17.9 ± 7.0 years. From a surgical review, all cases had bifurcation at the horizontal segment of FN, including 1 case of FN trifurcation. The diagnostic difference between HRCT imaging and intraoperation observations for malformations in the middle ear varies widely depending on the location, ranging from 0% to 90%. The prevalence of incus and stapes malformations was high in both imaging and operation findings (≥60%). The detection rate of abnormal positioning and bifurcation of the FN during HRCT imaging was 30% and 0%, respectively. The mean air-bone gap hearing threshold for patients was significantly improved from 42.3 dB preoperatively to 15.6 dB postoperatively without any complications. These results showed that it is extremely difficult to predict the FN bifurcation prior to surgery with a detection rate of 0%. The diagnostic difference between HRCT imaging and intraoperation observations for malformations of different parts of the middle ear varies widely. These results highlight the importance of being vigilant in regard to FN anatomical variation during stapes surgery for any unexpected malformations that are not detected during HRCT evaluation. In addition, the surgical outcomes for these patients were optimal when treatment was performed by senior surgeons.

8 out of 10 patients do well after surgery for tarsal coalitions: A systematic review on 1284 coalitions.

BACKGROUND: The primary aim was to determine the clinical success rate after treatment for talocalcaneal (TCC) and calcaneonavicular coalitions (CNC). The secondary aim was to evaluate the complication, recurrence and revision rate. METHODS: A search was carried out in MEDLINE, EMBASE and Cochrane Library. Methodological quality was assessed using the Methodological Index for Non-Randomised Studies (MINORS) criteria. The primary outcome was the clinical success rate and was pooled per type of coalition and treatment modality. 95% Confidence Intervals (CI) of the success rates were calculated. Secondary outcomes included complication rates, coalition recurrence rates, revision rates and pain improvement using the Visual Analogue Scale (VAS). A sub-analysis on interposition material was performed. RESULTS: 43 articles comprising of 1284 coalitions were included, with a pooled mean follow-up of 51 months. Methodological quality was fair. The overall pooled success rate for TCCs was 79% (95% CI, 75%-83%). Conservative treatment, open resection and arthroscopic resection of TCCs resulted in success rates of 58% (95% CI, 42%-73%), 80% (95% CI, 76%-84%) and 86% (95% CI, 71%-94%), respectively. CNCs have an overall success rate of 81% (95% CI, 75%-85%), with 100% (95% CI, 34%-100%), 80% (95% CI, 74%-85%) and 100% (95% CI, 65%-100%) for conservative treatment, open resection and arthroscopic resection, respectively. Pooled complication rates of 4% (95% CI, 3%-7%) for TCCs and 6% (95% CI, 4%-11%) for CNCs were found. The success rates of resection with and without interposition material for TCCs were 83% (95% CI, 78%-87%) and 79% (95% CI, 65%-88%), and for CNCs 81% (95% CI, 76%-86%) and 69% (95% CI, 44%-85%), respectively. CONCLUSION: Treatment of tarsal coalitions can be considered good to excellent as well as safe, with an overall clinical success rate of 79% for TCCs and 81% for CNCs. Arthroscopic resection of the coalition appears to be non-inferior to open resection of TCCs and CNCs. LEVEL OF EVIDENCE: Level IV, Systematic Review.

Multiple synostoses syndrome: Clinical report and retrospective analysis.

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.

Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses. OBJECTIVE: To investigate four Treacher Collins syndrome patients of the Sgaw Karen family living in Thailand. METHOD: Clinical examination, hearing tests, lateral cephalometric analyses, Computed tomography, whole exome sequencing and Sanger direct sequencing were performed. RESULTS: All of the patients affected with Treacher Collins syndrome carried a novel TCOF1 mutation (c.4138_4142del; p.Lys1380GlufsTer12), but clinically they did not have the typical facial gestalt of Treacher Collins syndrome, which includes downward-slanting palpebral fissures, colobomas of the lower eyelids, absence of eyelashes medial to the colobomas, malformed pinnae, hypoplastic zygomatic bones and mandibular hypoplasia. Lateral cephalometric analyses identified short anterior and posterior cranial bases, and hypoplastic maxilla and mandible. Computed tomography showed fusion of malleus and incus, sclerotic mastoid, hypoplastic middle ear space with a soft tissue remnant, dehiscence of facial nerve and monopodial stapes. CONCLUSION: Treacher Collins syndrome in Sgaw Karen patients has not been previously documented. This is the first report of monopodial stapes in a TCS patient who had a TCOF1 mutation. The absence of a common facial phenotype and/or the presence of monopodial stapes may be the effects of this novel TCOF1 mutation.

A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome.

Human multiple synostoses syndrome (SYNS) is an autosomal dominant disorder characterized by multiple joint fusions. We previously identified a point mutation (S99N) in FGF9 that causes human SYNS3. However, the physiological function of FGF9 during joint development and comprehensive molecular portraits of SYNS3 remain elusive. Here, we report that mice harboring the S99N mutation in Fgf9 develop the curly tail phenotype and partially or fully fused caudal vertebrae and limb joints, which mimic the major phenotypes of SYNS3 patients. Further study reveals that the S99N mutation in Fgf9 disrupts joint interzone formation by affecting the chondrogenic differentiation of mesenchymal cells at the early stage of joint development. Consistently, the limb bud micromass culture (LBMMC) assay shows that Fgf9 inhibits mesenchymal cell differentiation into chondrocytes by downregulating the expression of Sox6 and Sox9. However, the mutant protein does not exhibit the same inhibitory effect. We also show that Fgf9 is required for normal expression of Gdf5 in the prospective elbow and knee joints through its activation of Gdf5 promoter activity. Signal transduction assays indicate that the S99N mutation diminishes FGF signaling in developmental limb joints. Finally, we demonstrate that the conformational change in FGF9 resulting from the S99N mutation disrupts FGF9/FGFR/heparin interaction, which impedes FGF signaling in developmental joints. Taken together, we conclude that the S99N mutation in Fgf9 causes SYNS3 via the disturbance of joint interzone formation. These results further implicate the crucial role of Fgf9 during embryonic joint development.

Evaluation of the stapedial tendon growth dynamic in human fetuses.

PURPOSE: The main objective of the study was to investigate the morphometric properties of the stapedial tendon (ST) for pediatric otosurgeons and anatomists. METHODS: The present study was placed on 15 fetuses (8 females, 7 males) aged from 20 to 30 weeks of gestation (at mean, 24.27 ± 3.24 weeks) using the collection of the Anatomy Department of Medicine Faculty, Mersin University. All measurements were obtained with a digital image analysis software. RESULTS: In terms of male/female or right/left comparisons, no statistically significant difference was found in relation with the numerical data of ST. The surface area, length, and width of ST were detected as follows: 0.61 ± 0.15 mm2, 1.27 ± 0.30 mm, and 0.45 ± 0.08 mm, respectively. The absence of ST was observed in two fetuses with and without severe malformations. In another fetus with cleft lip and polydactyly, multiple abnormalities were bilaterally identified in the middle ear: (1) the absence of the incudostapedial joint and (2) the presence of an abnormal tissue attaching to the stapes. The abnormal tissue was determined to be irregular dense connective tissue using light microscope and electron microscope. CONCLUSION: Our findings showed that ST did not proportionally grow according to increasing gestational weeks. In the light of the numerical data, we thought that similar to stapes, ST attains the adult size in the fetal period. As ST anomalies may accompany severe malformations (e.g., cleft lip, polydactyly or syndactyly) that can be easily detected on observation by clinicians, we suggest that the detailed examination of middle ear in newborns should be taken into account for early diagnosis of conductive hearing loss to prevent any management delays.

Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.

We report a family of Indian origin presenting with Tarsal-carpal coalition syndrome (TCC), which is a rare genetic disorder of skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children) were found to be similarly affected with slight intrafamilial individual variability in the phenotype. Sanger sequencing revealed a novel heterozygous missense mutation in NOG gene (NM_005450.4:c.611G>A) in all the affected individuals of the family. Until now only six mutations have been reported in different families affected with TCC syndrome worldwide. This report further delineates the phenotypic spectrum of this rare disorder with the addition of a new variant to the mutation spectrum.

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.

Mutations in the NOG gene give rise to a wide range of clinical phenotypes. Noggin, the protein encoded by this gene is a secreted modulator of multiple pathways involved in both bone and joint development. Proximal symphalangism is commonly observed in patients bearing mutations in this gene, however secondary symptomes are often found including typical facies with hemicylindrical nose with bulbous tip, hyperopia, reduced mobility of multiple joints, hearing loss due to stapes fixation, and recurrent pain from affected joints. With large variation of the phenotype both within and between affected families careful delineation of the genotype-phenotype correlation is needed. In this work we describe a Danish family suffering from SYNS1 due to a novel NOG gene mutation (C230Y). We provide detailed clinical description of the family members presenting rare phenotype of the shoulders shared by affected individuals but no hearing loss, further adding to the phenotypic variability of the syndrome. With these findings we broaden the understanding of NOG-related-symphalangism spectrum disorder. © 2016 Wiley Periodicals, Inc.

Stapes malformations: the contribute of the endoscopy for diagnosis and surgery.

The aim of this study is to investigate the contribute of the endoscopic exclusive transcanalar approach for the management of stapes malformations. A retrospective chart review was made at our tertiary referral centers. 17 patients with stapes malformations underwent surgery with endoscopic exclusive transcanal approach. A complete audiological and radiological assessment before and after surgery was performed. 12/17 (70 %) underwent a surgical endoscopic correction, In case of fixed platina underwent five endoscopic stapedotomy and one endoscopic stapedectomy were performed. In case of mobile platina five endoscopic ossiculoplasties with partial ossiculoplasty replacement prosthesis were performed, 3 with autologous remodeling incus and 2 with malleus head remodeling. In 1 case, only an endoscopic stapes mobilization was made. In 5/17 (30 %), due to difficult anatomical findings an endoscopic explorative tympanotomy was finally performed. The mean preoperative air conduction (AC), bone conduction (BC) and air-bone gap (ABG) were, respectively, 60.7, 26.3 and 34.4 dB. The mean postoperative AC, BC and ABG were, respectively, 33.8, 26.5 and 7.3 dB, with a mean improvement of the ABG of 27.1 dB. Discharge from hospital was on the first post-surgery day. No relevant postoperative complications were noted. The median follow-up was 3.6 years (range 1-6). The endoscopic approach results very adequate for the diagnosis and treatment of stapes malformations, checking variations of the ossicles conformation and functioning and performing safe surgery, under direct control of middle ear structures.

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

In this study, we describe three unrelated Japanese patients with hearing loss and symphalangism who were diagnosed with proximal symphalangism (SYM1), atypical multiple synostosis syndrome (atypical SYNS1) and stapes ankylosis with broad thumb and toes (SABTT), respectively, based on the clinical features. Surgical findings in the middle ear were similar among the patients. By next-generation and Sanger sequencing analyses, we identified two novel mutations, c.559C>G (p.P178A) and c.682T>A (p.C228S), in the SYM1 and atypical SYNS1 families, respectively. No pathogenic changes were found in the protein-coding regions, exon-intron boundaries or promoter regions of the NOG, GDF5 or FGF9 genes in the SABTT family. Such negative molecular data suggest there may be further genetic heterogeneity underlying SYNS1, with the involvement of at least one additional gene. Stapedotomy resulted in good hearing in all patients over the long term, indicating no correlation between genotype and surgical outcome. Given the overlap of the clinical features of these syndromes in our patients and the molecular findings, the diagnostic term 'NOG-related-symphalangism spectrum disorder (NOG-SSD)' is advocated and an unidentified gene may be responsible for this disorder.

Arthroscopic Talocalcaneal Coalition Resection in Children.

PURPOSE: To present the technique and outcomes of arthroscopic talocalcaneal coalition (TCC) resection in pediatric patients. METHODS: We performed a prospective study of 16 consecutive feet with persistent symptomatic TCCs in 15 children. The mean age was 11.8 years (range, 8 to 15 years), and the mean follow-up period was 28 months (range, 12 to 44 months). A posterior arthroscopic TCC resection was performed. The plantar footprint, subtalar motion, pain, and the American Orthopaedic Foot & Ankle Society Ankle-Hindfoot scale score were evaluated preoperatively and postoperatively. Preoperative computed tomography (CT) scans were used to classify the coalition according to the Rozansky classification, to measure the percentage of involvement of the surface area, and to determine the degree of hindfoot valgus. Postoperative CT scans at 1 year (n = 15) and 3 years (n = 5) were used to assess recurrences. Patient satisfaction was also evaluated. RESULTS: The TCC distribution according to the Rozansky classification was type I in 7 cases, type II in 3, type III in 3, and type IV in 3. In all cases the arthroscopic approach enabled complete coalition resection. All patients increased by at least 1 stage in the footprint classification and showed clinical subtalar mobility after surgery. All patients showed a statistically significant improvement in pain after surgery except for 1 patient in whom complex regional pain syndrome developed (P < .001). The mean American Orthopaedic Foot & Ankle Society score was 56.8 (range, 45 to 62) preoperatively versus 90.9 (range, 36 to 100) postoperatively, showing a statistically significant increase (P < .001). Preoperative CT scans showed that all TCCs involved the medial subtalar joint facet, with mean involvement of 40.8% of the articular surface. All postoperative CT scans showed complete synostosis resections with no recurrences at final follow-up. At final follow-up, all patients were either satisfied (n = 4 [27%]) or extremely satisfied (n = 10 [67%]) with the outcome, except the 1 patient (7%) in whom complex regional pain syndrome developed. CONCLUSIONS: Arthroscopic TCC resection provides good outcomes (symptom relief and restoration of subtalar motion), with no recurrence of the coalition. LEVEL OF EVIDENCE: Level IV, therapeutic case series.

Labyrinthine fenestration for stapes fixation in chronic ear disease others than otosclerosis.

The objective of this study is to assess the results of labyrinthine fenestration for fixed stapes in chronic ear disease. Using a prospective database, pre- and postoperative audiometric data from patients undergoing labyrinthine fenestration for fixation of the stapes in chronic ear disease others than otosclerosis between 2002 and 2012 were evaluated. Twenty-three labyrinthine fenestrations in chronic ear disease were performed (17 malleo-stapedotomies, 4 incus-stapedotomies, 1 neo-malleus-stapedotomy, 1 TORP-stapedotomy). Overall, the mean short-term (2 months) and long-term (42 months) postoperative air-bone gap (0.5-3 kHz) were 17.5 and 16.5 dB, respectively; long-term air-bone gap of <20 dB was obtained in 73 % of patients. There was no significant difference in air-bone gap closure between tympanosclerotic and post inflammatory osteogenic fixation of the stapes (p = 0.267). Hearing benefit success using the 'Belfast rule of the thumb' was achieved in 48 %. Normal bilateral hearing was achieved in 17 % and bilateral symmetric hearing impairment in 26 %. Only in 4 %, bone conduction worsened by more than 5 dB. Labyrinthine fenestration is an option in selected cases of stapes fixation in chronic ear disease and provides hearing gain without significant risk for sensorineural hearing loss. In those already selected cases, hearing benefit success 'Belfast rule of the thumb' is achieved only in half of the cases. This and the possible alternatives, should therefore be discussed preoperatively.

Surgical Considerations for Massive Tarsal Coalitions in Multiple Synostosis Syndrome: A Case Report.

Tarsal-carpal coalition syndrome is an autosomal dominant inherited condition characterized by fusion of the carpal and tarsal bones and foot deformity. Associated pain and/or gait disturbance are the main complaints. The deformity usually consists of varying degrees of hindfoot varus and forefoot supination. The treatment of these patients is mainly aimed at symptomatic relief. We performed a published data review of this condition and discuss our findings in the context of the case of a 10-year-old female with congenital varus deformity of both feet. The tarsal-carpal coalition syndrome has been included in the spectrum of heritable disorders related to mutations in the NOG gene. Deformity management should be customized to the patient's requirements, and satisfactory results are achievable with adequate rehabilitation. It is important to remember that surgery is only necessary for symptomatic relief and that patients with tarsal-carpal coalition syndrome should be followed up over time because the condition can evolve.

Computed tomographic findings of X-linked deafness: a spectrum from child to mother, from young to old, from boy to girl, from mixed to sudden hearing loss.

PURPOSE: Congenital mixed hearing loss associated with fixed stapes footplate is a rare disorder transmitted through X-linked inheritance. The purpose of this study was to report the radiologic findings of X-linked deafness with middle ear anomalies in affected children and young patients and in carrier women. MATERIALS AND METHODS: The computed tomographic and audiometric findings of 7 subjects (4 affected children and young patients, 1 of whom is a girl; 2 carrier mothers; and a man who presented with sudden hearing loss) from different families were analyzed. RESULTS: Computed tomography showed bulbous dilatation of the fundi of the internal auditory canals, incomplete bony separation between the basal turn of the cochleas and the lateral ends of the internal auditory canal, deficiency of the modiolus, enlarged first part of the facial nerve, and dilatation of the superior and the inferior vestibular nerve canal and the singular canal. Besides these characteristic findings, dilatation of the vestibular aqueduct was seen except in the man. Middle ear anomalies including oval and/or round window and/or stapes abnormalities were also detected in three affected patients. The carrier mothers had milder forms of some characteristic findings. CONCLUSIONS: Because of the risks of stapes surgery in X-linked deafness, recognition of the characteristic imaging features of these disorders is important. Especially in young patients with mixed hearing loss, temporal bone computed tomography should be performed before stapes surgery to avoid the complication of stapes gusher. Middle ear anomalies might be highly associated with X-linked deafness.

Distinct audiometric patterns in congenital round window atresia: A comparative study with common congenital middle ear anomalies.

OBJECTIVE: Little is known about the hearing characteristics in patients with congenital round window atresia (CRWA). This study aimed to investigate hearing characteristics in patients with CRWA by comparing them with two relatively common congenital middle ear anomalies: congenital stapedial fixation (CSF) and congenital ossicular discontinuity (COD). METHODS: Literature searches yielded five patients with surgically confirmed CRWA (seven ears), who were included in the CRWA group, along with one of our patients. Air and bone conduction thresholds; air-bone gap (ABG); and presence and depth of the Carhart notch were analyzed. These audiometric variables in the CRWA group were compared with those in the CSF (n = 15) and COD (n = 22) groups, comprising patients identified from our institution's medical database. RESULTS: Average bone and air conduction thresholds in the CRWA group were 16.4 (standard deviation [SD]: 2.9; 95 % confidence interval [CI]: 14.6-18.3) and 44.6 (SD: 3.5; 95 % CI: 42.6-47.3) dB hearing level (HL). Bone conduction thresholds at high frequencies (≥2 kHz) were higher than those at low frequencies (<2 kHz), while air conduction thresholds at high frequencies were lower than those at low frequencies: ABGs at high frequencies were significantly smaller than those at low frequencies (2 kHz vs. 0.5 kHz, p = 0.027; 2 kHz vs. 1 kHz, p = 0.041; 4 kHz vs. 0.5 kHz, p = 0.042; 4 kHz vs. 1 kHz, p = 0.027). There were no between-group differences in incidence and depth of the Carhart notch. CONCLUSION: CRWA could manifest as a distinct audiometric pattern with poorer bone conduction and better air conduction at ≥2 kHz, resulting in significantly smaller ABGs at higher frequencies than that at lower frequencies. Our findings indicated that this pattern differed from that of CSF and COD. The unique beer bottle-shaped audiogram associated with CRWA might facilitate its early diagnosis in patients with congenital conductive hearing loss.

[The imaging appearances of stapical footplate fistula related to inner ear malformation].

Objective: To summarize the HRCT and MRI appearances of stapical footplate fistula related to inner ear malformation (SFF-Re-IEM). Methods: The HRCT and MRI materials of 48 cases (53 ears) SFF-Re-IEM were retrospectively analyzed. Among them, 25 SFF-Re-IEM ears were confirmed by surgery. Their CT and MRI findings including associated IEM type, internal auditory canal (IAC) malformation, tympanic fluid, its density and signal features, and accompanied labyrinthitis were recorded. Results: Among 48 cases (53 ears) with SFF-Re-IEM, 17 ears with incomplete partition type Ⅰ, accounting for 32.1%, 13 ears with common cavity for 24.5%, 13 ears with cochlear aplasia for 24.5%, 7 ears with cochlear dysplasia Ⅱ for 13.2%, and 3 ears with Mondini for 5.7%,were found respectively. 94.3% of them were associated with a defect or dysplasia in the found of the IAC. They were divided into 4 types according to the intact of the stapical footplate and accompanied CSF otorrhea: 22 ears were diagnosed as the stapical footplate leaking, of them, 2 ears might come from the stapical footplate bony defect, 6 ears were from the stapical footplate hernia. 1 ear belonged to the peristapical footplate leaking. 30 ears with the isolated the stapical footplate hernia were another found. The bony defect in 2 ears with the stapical footplate bony defect were not presented on CT and MRI.The focal bony defect of the affected stapical footplate of 36 ears with the stapical footplate hernia were demonstrated, which presented the hemispherical protruding into the tympana, the soft-tissue density on CT, and CSF-like signal on the MR heaved-T2WI images. Among 22 ears with the stapical footplate leaking, their imaging appearances varied from the different amount of the leaking CSF. Besides the focal bony defects of the affected stapical footplates, there were much more CSF-like density or signal in the ipsilateral tympanic cavity in 17 affected ears connecting with the vestibule through the defect area. In the CSF leaking ears with less CSF leaking in 5 ears, the CSF-like cysts like SFH were shown on the stapical footplate defect area, but their outer edges were irregular, and the CSF-like signal scattering in the tympanic cavity did not connect with the protruding cysts at the stapical area. Conclusion: The variable appearances of the SFF-Re-IEM ears based on the different subtypes are its characteristic HRCT and MRI appearances. This is helpful for the SFF-Re-IEM diagnosing to grasp its imaging features.