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.

Audiologic Outcomes After Vestibulotomy in Patients With Congenital Absence of the Oval Window.

OBJECTIVE: To examine the clinical features and surgical outcomes in patients with congenital absence of the oval window (CAOW), and to investigate the potential factors that affect audiologic results. STUDY DESIGN: A retrospective chart review. SETTING: A tertiary academic center. PATIENTS AND INTERVENTION: A total of 17 ears among 16 patients were confirmed to have CAOW. Among them, 13 ears underwent vestibulotomy for hearing reconstruction. Clinical parameters associated with the hearing outcomes were analyzed. MAIN OUTCOME MEASURES: A mean air-bone gap (ABG) after 6-month and long-term follow-up was compared with preoperative measurements. RESULTS: Intraoperative findings showed that anomalies of the malleus or incus were observed in 11 ears (64.7%), stapes anomalies were present in all ears (100%), and facial nerve anomalies were present in 10 ears (58.8%). Because of unfavorable facial nerve anomalies, hearing reconstruction was aborted in four cases (23.5%). In the hearing reconstruction group, the mean ABG at 6 months postoperation was significantly reduced after compared with the preoperative value (44.0 ± 8.4 dB versus 58.8 ± 9.1 dB, p = 0.006). After dividing ears into a success subgroup (ABG ≤ 30 dB, seven ears) and non-success subgroup (ABG > 30 dB, six ears), the use of a drill during vestibulotomy was significantly related to a poor hearing outcome (100% versus 16.7%, p = 0.015). The long-term follow-up result (mean, 60 mo) revealed no deterioration compared with the 6-month postoperative result. Five ears (29.4%) underwent revision surgery, and three of them showed ABG improvements. No serious complications were reported. CONCLUSION: Vestibulotomy is an effective and safe option for hearing restoration in patients with CAOW, particularly when the use of a drill is not required. The long-term audiologic outcome is also reliable.

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.

Absent Stapedial Tendon: Imaging Features of an Underrecognized Entity : Clinical Neuroradiology.

PURPOSE: Congenital absence of the stapedial tendon is a rare entity with characteristic imaging findings, which can go unrecognized due the scarcity of the diagnosis and limited previous description in the imaging literature. We aim to characterize the imaging features of this entity. METHODS: A series of 9 cases with surgical confirmation of stapedial tendon absence were retrospectively reviewed and the most common abnormalities on high resolution computed tomography (CT) of the temporal bone described. RESULTS: Congenital fixation of the stapes footplate was present in nearly all cases of stapedial tendon absence (n = 8, 89%), a clinically important association because the stapes footplate abnormality was not detectable on preoperative CT. Absence or hypoplasia of the pyramidal eminence and aperture was identified in almost all cases (n = 8, 89%), which may be the sole imaging finding to suggest stapedial tendon absence and associated stapes footplate fixation prior to surgery. CONCLUSION: The most reliable indicator of stapedial muscle absence on temporal bone CT is the absence or hypoplasia of the pyramidal eminence and aperture. Importantly, most patients had congenital stapes footplate fixation confirmed intraoperatively with a normal stapes footplate on CT, meaning the pyramidal eminence/aperture abnormality was the only preoperative imaging finding that could have suggested the footplate fixation.

Juvenile otosclerosis and congenital stapes footplate fixation. A systematic review and meta-analysis of surgical outcomes and management.

OBJECTIVE: Juvenile Otosclerosis (JO) and Congenital Stapes Footplate Fixation (CSFF) are rare ossicular chain disorders seen in the paediatric population and present with conductive hearing loss. Ongoing controversy exists regarding the role of surgical intervention in JO and CSFF given the poorer hearing outcomes and complications when compared with surgical intervention for adult otosclerosis. The objective of this study is to assess the published data on the surgical outcomes of JO and CSFF in order to guide clinicians and counsel patients on the various medical options for these disease entities. METHODS: A systematic review of MEDLINE, EMBASE and Cochrane was performed with inclusion criteria of children with JO or CSFF and hearing outcomes following stapes surgery. Studies identified by the search were reviewed and assessed by two independent reviewers in line with the PRISMA guidelines. RESULTS: 464 articles were initially reviewed and 28 articles met inclusion in the systematic review and meta-analysis. A total of 810 ears (473 and 337 cases of JO and CSFF respectively) underwent stapes surgery. Average age at time of surgery for JO and CSFF was 14.3 and 10.2 years old respectively. The mean pre-operative Air-Bone-Gap (ABG) for JO and CSFF was 31.8 ± 5.2 dB and 39.4 ± 10 dB respectively. Following stapes surgery, the mean post-operative ABG for JO and CSFF was 9.6 ± 6 dB and 19.2 ± 12.5 dB respectively. Surgical success rate (defined as ABG <10 dB) was 81% for JO and 41% for CSFF. Mean ABG gain for JO and CSFF was 24.8 dB (95% CI: 18.6-33.1) and 22.6 dB (95% CI: 18.4-27.8) respectively. The reported number of dead ears was 4/473 (0.8%) for JO and 2/337 (0.6%) for CSFF. 23 cases (2.8%) reported sensorineural hearing loss (SNHL) >10 dB. CONCLUSION: CSFF was associated with poorer hearing outcomes compared to JO, however both entities showed similar improvement in ABG post operatively. Counselling patients and their families on the surgical success rates and complications of JO or CSFF is an important part of the decision making process when deciding between a surgical option or conservative measures such as hearing aids.

Transcanal endoscopic management of isolated congenital middle ear malformations.

BACKGROUND: A few studies have reported transcanal endoscopic management of isolated congenital middle ear malformations (CMEMs). OBJECTIVE: The purpose of this study is to describe our surgical experience in endoscopic ear surgery for isolated CMEMs and evaluate the surgical effect of hearing reconstruction. METHODS: From January 2017 to January 2022, a retrospective study was performed on 36 patients (37 ears) with isolated CMEMs who all underwent endoscopic surgery. Demographic data, high-resolution computed tomography (HRCT) findings, intraoperative findings, surgical management and audiometric data were recorded. RESULTS: Anomalies were categorized according to the Teunissen and Cremers classification system: 8 ears were categorized as class I, 8 ears as class II, 19 ears as class III and 2 ears as class IV. The air conduction pure tone average (AC-PTA) of 37 cases was 61.5 ± 8.6 dB preoperatively and 29.6 ± 6.9 dB postoperatively (p < 0.001). The mean preoperative air-bone gap (ABG) significantly decreased from 43.1 ± 8.7 dB to 12.8 ± 5.5 dB postoperatively. 36 of 37 cases (97%) met the criteria for successful operation. CONCLUSION: Isolated CMEMs are mainly manifested as aplasia of the stapes' superstructure and dysplasia of the long process of the incus. Transcanal endoscopic surgery seems a safe technique for the management of isolated CMEMs.

Cerebrospinal Fluid Leak During Stapes Surgery: The Importance of Temporal Bone CT Reconstructions in Oblique Anatomically Oriented Planes.

Stapes gusher is a massive flow of perilymph and cerebrospinal fluid leak that fills the middle ear immediately after surgical opening of the labyrinth, such as during stapedectomy. Stapes gusher usually occurs as the result of a congenital malformation that causes an abnormal communication between the perilymphatic space and the subarachnoid space involving the internal auditory canal or the cochlear duct. To date, the potential risk of stapes gusher cannot be assessed preoperatively, as there are not pathognomonic signs suggestive of this complication. However, high-resolution computed tomography scan (HRCT) of the temporal bone can provide information that may help recognizing patients at risk. Recently, an anatomic evaluation of the inner ear with oblique reformation at HRCT has been described. This reformation offers a new and more detailed topographic vision of temporal bone structures compared to the classic axial and coronal planes and may help identifying anatomical alterations otherwise not visible. In this article, we present a case of stapes gusher and the role of preoperative HRCT with oblique reformation in its prevention.

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.

Stapedotomy in Congenital Stapes Ankylosis with Mobile Footplate: A Case Report.

BACKGROUND This paper presents a case of a 15-year-old child with a rare congenital anomaly of the middle ear in which the stapes was fused to the medial wall of the tympanic cavity. CASE REPORT This defect coexisted with partial malleus fixation in the attic and caused conductive hearing loss at an average level of 35-40 dB. Two exploratory tympanotomies were performed, where excess bone between the stapes and promontory was removed and the head of the malleus was released in the attic. The good effect of these procedures was unstable, mainly due to re-attachment of the stapes to the medial wall of the tympanic cavity. At the next surgery it was decided to perform stapedotomy, despite the mobile stapes footplate. The operation was performed with a small-fenestra stapedotomy technique. Perforation of the footplate was done using a microdrill with a balanced speed. A KURZ prosthesis with a diameter of 0.5 mm was used. The postoperative period passed without any complications. Three and 6 months after the surgery, control pure tone audiometry was performed and showed significant improvement in hearing thresholds. During the follow-up period of more than 6 months, hearing improvement remained stable. CONCLUSIONS We concluded that it was safe to perform stapedotomy in the presence of a mobile stapes footplate when congenital anomaly of the stapes superstructure caused its severe fixation in the middle ear. In our opinion, in a child with congenital ear anomaly, consideration should be given to the multifocal origin of the hearing loss.

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.

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.

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.

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.

OBJECTIVE: Analyze the clinical and genetic characteristics of a rare Chinese family with Multiple synostoses syndrome and identify the causative variant with the high-throughput sequencing approach. METHODS: The medical history investigation, physical examination, imaging examination, and audiological examination of the family members were performed. DNA samples were extracted from the family members. The candidate variant was identified by performing whole-exome sequencing of the proband, then verified by Sanger sequencing in the family. RESULTS: The family named HBSY-018 from Hubei province had 18 subjects in three generations, and six subjects were diagnosed with conductive or mixed hearing loss. Meanwhile, characteristic features including short philtrum, hemicylindrical nose, and hypoplastic alae nasi were noticed among those patients. Symptoms of proximal interdigital joint adhesion and inflexibility were found. The family was diagnosed as Multiple synostoses syndrome type 1 (SYNS1).The inheritance pattern of this family was autosomal dominant. A novel mutation in the NOG gene c.533G>A was identified by performing whole-exome sequencing of the proband. The substitution of cysteine encoding 178th position with tyrosine (p.Cys178Tyr) was caused by this mutation, which was conserved across species. Co-segregation of disease phenotypes was demonstrated by the family verification. CONCLUSION: The family diagnosed as SYNS1 was caused by the novel mutation (c.533G>A) of NOG. The combination of clinical diagnosis and molecular diagnosis had improved the understanding of this rare disease and provided a scientific basis for genetic counseling in the family.

Developmental Disruptions of the Human Stapes.

OBJECTIVE: To evaluate and classify developmental malformations of the human stapes. METHODS: Twenty-five temporal bone specimens from 18 patients with congenital stapes malformations were identified in the Mass Eye and Ear temporal bone collection. Serial sections stained with hematoxylin and eosin were examined by light microscopy and the morphology of the stapes was compared to age-matched controls. RESULTS: Each case of stapes malformation could be classified into one of four malformation types based on our current understanding of the embryologic origin of the subunits of the stapes and timing of development. Twenty-seven percent of stapes malformations had a Type I morphology characterized by a hypoplastic or absent inner footplate and hypoplastic to absent mesoderm footplate or oval window. The crura and capitulum may be absent, monopodal or dysmorphic. Eleven percent expressed a Type II malformation with dysmorphic or monopodal capitulum and crura and a fixed footplate. Twenty-seven percent were of Type III with a dysmorphic or monopodal capitulum and or crura. The footplate, and thereby oval window is present and without fixation. The most common malformation, Type IV, was isolated footplate fixation observed in 33% of cases. CONCLUSIONS: Malformations of the human stapes follow consistent patterns of early or late disruptions of the stapes subunits of mesodermal and/or neural crest origin. While the molecular events, including temporal coordination, that lead to a normally formed stapes are not yet fully understood, the observed patterns of human stapes malformation can be consistently classified into one of four patterns of developmental disruption.

Natural Progression and Symptomatic Management of Tarsal-Carpal Coalition Syndrome: A Case Report.

CASE: Tarsal-carpal coalition syndrome (TCCS) is a disorder identified by fusion of the carpals, tarsals, and phalanges of the hands and feet. We describe a case of an 11-year-old girl who has been followed at our outpatient clinic from the age of 8 months. CONCLUSION: Although patients with TCCS can experience a wide range of symptoms, the primary complaint arises from the foot deformity and associated pain. Using advanced imaging such as 3D computed tomography reconstruction and genetic testing, this report details the clinical, genetic, and radiographic characteristics of the disorder. We highlight the natural progression and symptomatic management of TCCS.

Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.

OBJECTIVES: To better distinguish NOG-related-symphalangism spectrum disorder (NOG-SSD) from chromosomal 17q22 microdeletion syndromes and to inform surgical considerations in stapes surgery for patients with NOG-SSD. BACKGROUND: Mutations in NOG cause a variety of skeletal syndromes that often include conductive hearing loss. Several microdeletions of chromosome 17q22 lead to severe syndromes with clinical characteristics that overlap NOG-SSD. Isolated deletion of NOG has not been described, and therefore the contribution of NOG deletion in these syndromes is unknown. METHODS: Two families with autosomal dominant NOG-SSD exhibited stapes ankylosis, facial dysmorphisms, and skeletal and joint anomalies. In each family, NOG was evaluated by genomic sequencing and candidate mutations confirmed as damaging by in vitro assays. Temporal bone histology of a patient with NOG-SSD was compared with temporal bones of 40 patients diagnosed with otosclerosis. RESULTS: Family 1 harbors a 555 kb chromosomal deletion encompassing only NOG and ANKFN1. Family 2 harbors a missense mutation in NOG leading to absence of noggin protein. The incus-footplate distance of the temporal bone was significantly longer in a patient with NOG-SSD than in patients with otosclerosis. CONCLUSION: The chromosomal microdeletion of family 1 led to a phenotype comparable to that due to a NOG point mutation and much milder than the phenotypes due to other chromosome 17q22 microdeletions. Severe clinical findings in other microdeletion cases are likely due to deletion of genes other than NOG. Based on temporal bone findings, we recommend that surgeons obtain longer stapes prostheses before stapes surgery in individuals with NOG-SSD stapes ankylosis.

Salivary Gland Choristoma of the Middle Ear in a Child: A Case Report.

Salivary gland choristoma is an extremely rare middle ear pathology. We present the case of a 10-year-old girl with unilateral conductive hearing loss. Tympanotomy showed a nonspecific middle ear mass, absence of stapes, anomaly of incus, and displaced facial nerve. It was not possible to remove the mass completely. Histology confirmed salivary gland choristoma. The hearing in this case can be improved with a bone-anchored hearing aid.