Otologic Features Research Articles

Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14).

Musculocontractural Ehlers-Danlos syndrome (EDS) caused by pathogenic variants in CHST14 (mcEDS-CHST14) is a subtype of EDS characterized by multisystem malformations and progressive fragility-related manifestations. A recent international collaborative study showed that 55% of mcEDS-CHST14 patients had hearing loss (HL), more commonly of the high-frequency type. Here, we report the first systemic investigation of the otological features of patients with this disorder based on the world's largest cohort at Shinshu University Hospital. Nine patients [18 ears; four male and five female patients; mean age, 18 years old (range, 10-28)] underwent comprehensive otological evaluation: audiogram, distortion product otoacoustic emission (DPOAE) test, and tympanometry. The audiogram, available in all 18 ears, showed HL in eight patients (8/9, 89%) and in 14 ears (14/18, 78%): bilateral in six patients (6/9, 67%) and unilateral in two (2/9, 22%); mild in eight ears (8/18, 44%) and moderate in six (6/18, 33%); and high-frequency HL in five (5/18, 28%) and low-frequency HL in five (5/18, 28%). An air-bone gap was detected in one ear (1/18, 6%). DPOAE was available in 13 ears, with the presence of a response in five (5/13, 38%) and the absence in eight (8/13, 62%), including in three ears of normal hearing. Tympanometry results were available in 12 ears: Ad type in nine (9/12, 75%) and As type in one (1/12, 8.3%). Patients with mcEDS-CHST14 had a high prevalence of HL, typically sensorineural and bilateral, with mild to moderate severity, of high-frequency or low-frequency type, and sometimes with no DPOAE response. The pathophysiology underlying HL might be complex, presumably related to alterations of the tectorial membrane and/or the basilar membrane of Corti associated with disorganized collagen fibril networks. Regular and careful check-ups of hearing using multiple modalities are recommended for mcEDS-CHST14 patients.

Extensive cranial langerhans cell histiocytosis revealed by acute mastoiditis

Langerhans cell histiocytosis is a group of diseases characterized by an inflammatory neoplasia of myeloid precursor cells driven by mutations in the mitogen-activated protein kinase pathway leading to the proliferation and accumulation of Langerhans cells [1,2]. Clinical manifestations range from isolated disease to multifocal lesions and systemic involvement with a worse prognosis [2,3]. The otologic features are rare and may include otorrhea, otalgia, subjective hearing loss and vertigo misleading the diagnosis to an inflammatory process [3]. The CT scan shows destruction of the skull with characteristic “punched out” lytic lesions that can be multiple and multifocal. Tissue biopsy confirms the diagnosis [3].

Oculo-auriculo-vertebral spectrum and maternal drug ingestion: cause or coincidence?

Introduction Oculo-auriculo-vertebral spectrum (OAVS) is aetiologically/pathogenetically a heterogeneous disorder. This study focuses on investigating of maternal drug intake during pregnancy in OAVS cases. Materials and methods Our sample was composed of 114 paediatric cases of OAVS. For each patient, an evaluation form seeking identity, medical history, pregnancy and family data, physical/dysmorphological findings and results from complementary tests was applied. Through the analysis of all the forms applied, the history of drug exposure/maternal diseases were retrospectively studied. Results The age of the population studied ranged between 1 month and 18 years, the majority being male. Regarding otological features, most had pinna involvement: microtia (86.6%); preauricular appendices (41.6%) and preauricular sinus (15.7%). External auditory canal atresia/stenosis was observed in 61.0% of the cases. Most had conductive hearing loss (75.5%) and imaging study revealed middle/inner ear malformations in 21.1% of the cases. Regarding nonotological characteristics, ophthalmological, osteoarticular and cardiac involvement were the 3 most frequently observed. Most cases had no evident cause for the development of anomalies (68.4%). However, in 16.7% a positive family history was identified. A history of drug intake has been elicited in 14.9% of the participants. The drugs intake during pregnancy found in our study were: isotretinoin, fluoxetine, oral contraceptives, levothyroxine, domperidone, enalapril, acyclovir and pseudoephedrine/triprolidine and gestational diabetes in need of treatment. Conclusion Some drugs are unquestionably associated with the development of malformation, such as isotretinoin, however, the other drugs cannot be underestimated, since their synergistic effect with other environmental agents and genetic background may be in the origin of OAVS.

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)

Background and importanceHearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infancy.ObjectivesThis study aims to describe the clinical audiologic and otologic features and potential etiology of hearing impairment in GACI and gain pathophysiological insight from a murine model of GACI.DesignCross-sectional cohort study of individuals with GACI. Murine ossicle micromorphology of the ENPP1asj/asj mutant compared to wild-type.SettingClinical research hospital; basic science laboratory.ParticipantsNineteen individuals with GACI who met clinical, biochemical, and genetic criteria for diagnosis.Main outcomes and measuresClinical, biochemical, and radiologic features associated with hearing status.ResultsPure-tone thresholds could be established in 15 (n = 30 ears) of the 19 patients who underwent audiological assessments. The prevalence of HL was 50% (15/30) of ears, with conductive HL in 80% and sensorineural HL in 20%. In terms of patients with HL (n = 8), seven patients had bilateral HL and one patient had unilateral HL. Degree of HL was mild to moderate for 87% of the 15 ears with hearing loss. Of those patients with sufficient pure-tone and middle ear function data, 80% (8/10) had audiometric configurations suggestive of ossicular chain dysfunction (OCD). Recurrent episodes of otitis media (ROM) requiring pressure-equalizing tube placement were common. In patients who underwent cranial CT, 54.5% (6/11) had auricular calcification. Quantitative backscattered electron imaging (qBEI) of murine ossicles supports an OCD component of auditory dysfunction in GACI, suggesting loss of ossicular osteocytes without initiation of bone remodeling.Conclusions and relevanceHearing loss is common in GACI; it is most often conductive, and mild to moderate in severity. The etiology of HL is likely multifactorial, involving dysfunction of the ossicular chain and/or recurrent otitis media. Clinically, this study highlights the importance of early audiologic and otologic evaluation in persons with GACI. Novel findings of high rates of OCD and ROM may inform management, and in cases of unclear HL etiology, dedicated temporal bone imaging should be considered.

Analysis of the Clinical Features and Surgical Outcomes of First Branchial Cleft Anomalies.

To analyze the clinical features and otologic manifestations of first branchial cleft anomalies (FBCAs) and the disparity between Work's classification, and to explore the relationships between postoperative facial paralysis and features of FBCAs. Retrospective clinical study. A retrospective analysis of 109 patients with FBCAs was conducted, including clinical characteristics and otologic features. Pearson chi-square tests and Fisher's exact tests were used to compare disparity between Work's classification, and the impact factors of postoperative facial paralysis among 86 patients who were explored in follow-up. Patients with FBCAs presented with otologic symptoms, including cysts or fistula in the external auditory canal (EAC) and periauricular (43.2%), microtia (3.7%), EAC web (1.8%), otitis media (1.8%), and otorrhea (4.6%). Eighty-five cases (78.0%) were type I FBCAs and 24 (22.0%) were type II. Compared to type I FBCAs, type II (58.3%) was more likely to be located deep to the facial nerve (FN) and to have superficial parotidectomy on them (79.2%). This difference was statistically significant (P < .001). FBCAs deep to the FN had a higher incidence of postoperative facial paralysis (P < .05). The majority of patients (55.0%) had otologic symptoms. The FBCAs of Work type II was commonly deep to the FN and superficial parotidectomy was frequently performed. Postoperative facial paralysis was associated with FBCAs located deep to the FN, but not with Work's type. 4 Laryngoscope, 132:1008-1014, 2022.

A Study of Otological Manifestations of Temporal Bone Fractures.

The aim of study was to evaluate various otological manifestations of temporal bone fractures and to suggest their management. This prospective observational study was conducted in a tertiary care hospital of Armed Forces over 2.5years in 57 cases of temporal bone fracture in patients of age group of 12-59yrs comprising 49 males and 8 females. Radioimaging was done for diagnosing the fracture, mapping its extent and for clinical correlation. Hearing was assessed by tuning forks, free field hearing and pure tone audiogram as per the fitness of patient. Majority of patients were in the age group 20-40years who had met with road accidents. Important otological features included Battle sign (24.6%), ear canal laceration (53%), tympanic membrane perforation (7%), haemotymanum (40%), ear discharge (66.7%), hearing loss (63%), vertigo (16%), tinnitus (21%), facial paralysis (68%) and cerebrospinal fluid otorrhea (3.5%). Otic capsule sparing fracture was three times more common than violating ones. Facial palsies were treated with oral steroid with complete recovery in 56.41% cases but three required decompression surgery. 4 patients underwent tympanoplasty. Both the cerebrospinal fluid leaks stopped in 2weeks time. Facial palsy is as common as hearing loss. TM perforation is as rare as CSF leak. Otic capsule violating fracture line is less common. Hearing loss shows recovery in most of the cases. Delayed onset positional vertigo is more common than acute vertigo. Large numbers of immediate onset complete facial palsy do recover from injury without surgery.

To Evaluate the Correlation between Preoperative Otoscopic Features, Pure Tone Audiometric Findings and Intraoperative Ossicular Chain Status in Patients with Chronic Otitis Media

Aim: Chronic otitis media (COM) is chronic muco purulent discharge through a perforated tympanic membrane. Theossicular chain damage is found in both mucosal and squamosal types of COM. We aim to evaluate relationship between preoperative otologic features, pure tone audiometric findings and intraoperative ossicular chain status in patients with chronic otitis media. Material and Methods: 100 patients of either sex aged between 12 to 60 years operated for active or inactive, squamosal or mucosal chronic otitis media attending Ram Lal Eye and ENT Hospital, Government Medical College Amritsar were taken. The preoperative ossicular chain status based on set parameters was compared with the intraoperative ossicular chain status. Results: The ossicular chain integrity is more commonly compromised in squamosal COM and the most common ossicle eroded is Incus. Pure tone audiogram has got a very important role in determining the ossicular chain integrity preoperatively and must be done in all cases with accuracy. Conclusion: It is concluded that on the basis of otoscopic examination and pure tone audiometry values, we can accurately classify the COM as mucosal or squamosal type and get an idea of the ossicular chain integrity preoperatively hence planning the extent of surgery.

New Otologic Features and Surgical Treatment in Two Patients with Kabuki Syndrome

The purpose of this study is to describe otological features of two patients with Kabuki syndrome and hearing loss not previously described in medical literature and present the surgical treatment performed and its outcomes. The methods used are report of two patients with Kabuki syndrome with hearing loss, non-consanguineous, detailing the morphological and functional description of their external and middle ears, and review of relevant literature. In both cases, the conductive component of hearing loss was explained by anatomical abnormalities, like ossicular morphological changes, not previously described as part of the syndrome and not by medical history of otitis media. Patients were treated surgically with success: stapedotomy with angular piston stapes prosthesis was performed in one case and ossiculoplasty with incudostapedial joint prosthesis in the other case. The otologic findings described in this paper can be part of the Kabuki syndrome phenotype, and in these cases, the conductive component of the hearing loss was successfully treated by surgery.

Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia.

To evaluate otologic features of primary ciliary dyskinesia (PCD), especially eardrum features, audiometric findings, and clinical course. Retrospective patient review. Tertiary referral center. Fifteen patients (mean age, 16.9 years [range, 1-32 yr]; 8 males and 7 females) diagnosed with PCD at our university hospital in the last 12 years. Diagnostic. Electron microscopy of nasal cilia, gene mutation analysis, endoscopy of 30 eardrums, pure-tone audiometry, and tympanometry. All 15 patients showed ciliary ultrastructural abnormalities on electron microscopy and/or biallelic mutations in genes associated with ciliary function or structure. All 30 eardrums examined showed certain abnormalities. Fourteen patients had otitis media with effusion or its sequelae. The remaining patient had chronic otitis media. Pure-tone audiometry revealed the mean air conduction thresholds to be 25.0 and 26.4 dB in the right and left ears, respectively. In the ears with better hearing and worse hearing, the mean air conduction thresholds were 22.3 and 29.0 dB respectively. Otologic disease among patients with PCD essentially comprised otitis media with effusion, and the patients' eardrums showed a variety of findings. Knowledge of these otologic features may lead to the early detection of PCD.

Otologic and audiologic findings in 22q11.2 deletion syndrome

Hearing loss is frequently present in the 22q11.2 deletion syndrome. Our aim was to describe the audiologic and otologic features of patients with 22q11.2 deletion syndrome. We conducted a retrospective cohort study in a single tertiary referral center. We reviewed medical files of all patients with 22q11.2 deletion syndrome who visited an otolaryngologist, plastic surgeon or speech therapist, for audiologic or otologic features. Hearing loss was defined as a pure tone average (of 0.5, 1, 2, and 4 kHz) of >20 decibel hearing level. Audiograms were available for 102 of 199 included patients, out of which 163 ears were measured in the required frquencies (0.5–4 kHz). Median age at time of most recent audiogram was 7 years (range 3–29 years). In 62 out of 163 ears (38%), hearing loss was present. Most ears had conductive hearing loss (n = 58) and 4 ears had mixed hearing loss. The severity of hearing loss was most frequently mild (pure tone average of ≤40 decibel hearing level). In 22.5% of ears, otitis media with effusion was observed at time of most recent audiogram. Age was not related to mean air conduction hearing thresholds or to otitis media with effusion (p = 0.43 and p = 0.11, respectively). In conclusion, hearing loss and otitis media are frequently present in patients with 22q11.2 deletion syndrome. Moreover, our results suggest that children with 22q11.2 deletion syndrome remain susceptible for otitis media as they age.

Otologic characteristics of individuals with deletions of distal 18q.

To fully describe the otologic features seen in individuals with deletions of the distal long arm of chromosome 18 (distal 18q-). Cross-sectional/observational. More than 200 individuals with deletions of the long arm of chromosome 18 underwent a complete otologic and audiologic examination. In addition, chromosome microarray analysis to determine the chromosome copy number was completed for all participants. Overall, 113 subjects had clinical and audiological data to be reported here. Sixty-six percent of this population had aural stenosis or atresia. No subject had microtia. In the 53 individuals for whom serial data was available, enlargement of ear canal diameter was seen in 48% of ears with stenosis, examined over time. Abnormalities of the palate were seen in nearly 18% of patients and included complete or incomplete clefts of the palate, submucous clefts, and velopharyngeal insufficiency. A conductive hearing impairment was identified in 112 ears (49.5%), and sensorineural hearing loss was identified in 28%. Eustachian tube dysfunction was common and found in 78% of ears examined. The otologic phenotype varies widely among individuals with distal 18q-. External auditory canal stenosis without microtia is a hallmark of the disease. Hearing impairment is also very common, with both sensorineural losses and conductive losses contributing to morbidity. Moreover, the critical region for sensorineural hearing loss will aid in the identification of the gene responsible for this aspect of the distal 18q- phenotype. 4.

Immunological Model and Otological Manifestations of Behçet's Disease

Behcet's disease (BD) is an autoimmune vasculitis of unknown aetiology that is characterised by relapsing episodes of oral aphthous ulcers, genital ulcers, ocular lesions, skin lesions, and other manifestations, including vascular, gastrointestinal and neurological involvement. Behcet's disease exists worldwide, although there are significant regional differences, with the highest number of incidences in the Mediterranean, Middle East, and Far East. Behcet's disease occurs mainly between 18 and 40 years of age, and the male-to-female ratio is 7:1. The cause of Behcet's disease is unknown. It is believed to be due to an autoimmune process triggered by an infectious or environmental agent (possibly local to a geographic region) in a genetically predisposed individual. T cell homeostasis perturbation, especially Th1 and Th17 expansions and decrease regulation by Tregs are now supposed to be the cornerstone of BD pathogenesis. Inflammatory cytokine such as IL21 plays a critical role in pathogenesis of BD. Inner ear involvement in Behcet's disease was first reported by Alajouanine in 1961. Thereafter, many cases of inner ear involvement were described by other authors. The otological features of Behcet's disease can be divided into hearing loss and disequilibrium. The incidence of hearing loss in Behcet's disease has been reported to be 12 to 80% in several studies in the literature. Recently, some authors observed a significant percentage (59.2%) of hearing loss associated with Behcet's disease. According to other studies, hearing loss can be the fourth or even the third most common manifestation of the disease. The treatment of inner ear lesions remains unsatisfactory and is based on immunosuppressive agents and will not be reviewed here. This review focuses on the etiophatogenesis and otological manifestations of Behcet's disease and specifies the role of the otorhinolaryngologist as an integral member of the multidisciplinary team for clinical management of these patients.

Otologic and audiologic characteristics of children with skeletal dysplasia in central China

Conclusion: Otologic and audiologic abnormalities are both highly prevalent in Chinese children with skeletal dysplasias. Audiologic and otologic evaluations with medical intervention are recommended for these children. Objective: Children with skeletal dysplasia have a number of otolaryngologic issues including hearing loss. This study aimed to investigate the otologic and audiologic features of Chinese children with skeletal dysplasia in central China. Methods: Otologic evaluations and pure tone audiometry were performed in children with skeletal dysplasias. To explore the potential associations with hearing loss, we studied various craniofacial anomalies. Results: A total of 125 children (mean age 9.2 years, range 5–18 years) with skeletal dysplasia were enrolled, and otoscopic examination identified eardrum abnormalities in 45.6% of the children. Audiologic analysis revealed 14 cases (11.2%) with conductive hearing loss (CHL) and 22 cases (17.6%) with sensorineural hearing loss (SNHL).

Progressive familial hearing loss in Muckle-Wells syndrome

Conclusion: The age-dependent disease progression requires accelerating diagnosis of Muckle-Wells syndrome (MWS) in order to start treatment as early as possible. The most frequent, but not obligate symptoms are familial fatigue, hearing loss, and arthralgia. The design of further clinical trials should focus on hearing in order to document the long-term effect of anti-interleukin (IL)-1 drugs on hearing preservation. Objectives: This paper describes the otologic features of a genetically defined syndrome causing progressive hearing loss by cochlear degeneration. This is the first study reporting the pretreatment otologic presentation of a selected population with familial MWS. Methods: A single-center cohort was examined by audiologic and neurotologic methods including pure tone audiograms, vestibular testing, and tinnitus questionnaire. The audiograms of members of the same family were compared to describe the family-specific risk of hearing loss progression. Results: Nineteen patients (aged 3–72 years) belonging to four families with three different mutations of the NLRP3 gene were examined. Almost all patients (89%, 17/19) demonstrated bilateral sensorineural hearing loss. Hearing loss started in the high frequencies and led to profound deafness in the most severe cases. Even in cases of profound hearing loss the vestibular caloric reactivity was normal. Nearly half of the adults reported intermittent or permanent tinnitus.

Mastoiditis presenting as parietooccipital scalp abscess—A case report and literature review

This is a case report of a child who presented with an unusual presentation of acute mastoiditis, where the only feature was a gradually enlarging parieto-occipital mass. There was no significant other otological features at the time of presentation, where otoscopy revealed a normal middle ear and audiogram/tympanogram were normal. CT of the temporal bone revealed left mastoiditis with erosion of the inner cortex with extension of the abscess along the epidural space. A skull defect in the vault of the skull allowing communication of this extradural collection with a scalp abscess. MRI noted transverse and sigmoid sinus thrombosis. The child underwent left cortical mastoidectomy via extended post auricular approach. This was followed by a six weeks’ course of intravenous antibiotics and subcutaneous low molecular weight heparin. This case highlights the need to identify unusual modes of presentation for acute mastoiditis and to keep a high index of clinical suspicion to avoid complications of delayed treatment.

Clinical Analysis of the Otological Features of Primary Ciliary Dyskinesia

Clinical Analysis of the Otological Features of Primary Ciliary Dyskinesia

Otologic and audiologic manifestations of hutchinson‐gilford progeria syndrome

To define the audiologic and otologic phenotype of Hutchinson-Gilford progeria syndrome (HGPS). Prospective case series. Fifteen patients with HGPS were enrolled in a prospective natural history study; 14 were evaluated in the neurotology clinic, and 11 received audiologic evaluations. The physical exam and audiologic findings of these patients were reviewed to define an otologic and audiologic phenotype for HGPS in the largest series of subjects in the literature. All patients were noted to have stiff auricular cartilages, small or absent lobules, and hypoplasia of the lateral soft-tissue portion of the external ear canal leading to a shortened canal. Ten of 14 patients (71%) had dry cerumen impaction, and four of 14 patients (29%) reported a history of recurrent otitis media. Nineteen of 22 ears (86.4%) demonstrated low-frequency conductive hearing loss in the 250 to 500 Hz range. Sixteen of 22 ears (73%) had type A tympanograms; three of 22 ears (14%) displayed bimodal or "W" peaked tympanograms; two of 22 ears (9%) had type B tympanograms; one of 22 ears (4%) had a type C tympanogram. Nine of 10 patients had distortion product otoacoustic emissions consistent with normal peripheral hearing sensitivity. HGPS is caused by a mutation in the LMNA gene resulting in the production of an abnormal nuclear protein; this in turn affects nuclear structure and function. Patients with HGPS have characteristic otologic features due to cartilaginous and subcutaneous tissue abnormalities and typically demonstrate low-frequency conductive hearing loss despite largely normal tympanometry. It is important to be aware of these conditions in managing these patients.

Otologic Features in Children With Primary Ciliary Dyskinesia

To analyze otologic features in patients with primary ciliary dyskinesia (PCD) aged 0 to 18 years and to evaluate the correlation between ultrastructural defects and severity of otologic features. Retrospective study. Pediatric referral center. Fifty-eight patients with PCD were evaluated in the following 4 age intervals: group 1, preschool (≤ 5 years [n = 47]); group 2, school (6-11 years [n = 50]); group 3, teenagers (12-17 years [n = 34]); and group 4, young adults (≥ 18 years; 27 years for the oldest [n = 10]). Follow-up was 2 to 6 years in each age group; 26 patients had total follow-up of more than 12 years. Ultrastructural defects occurred in the outer dynein arm (n = 33), the inner dynein arm (n = 13), and the central complex (n = 11). One patient had typical Kartagener syndrome with typical PCD features but normal ciliary ultrastructure. Frequency of acute otitis media, otitis media with effusion, otorrhea, chronic otitis media, hearing loss, and middle ear surgery and type of antibiotic regimen according to age and type of defect. Recurrent acute otitis media decreased from group 1 (32 of 47 [68%]) to group 4 (0 of 10 [0%]) (P < .001). Otitis media with effusion was more severe in groups 1 through 3 than in group 4 (P = .02). Otorrhea decreased in group 4: 30% vs 80% (3 of 10 vs 36 of 41) in the other groups (P < .001). Half of the patients with tympanostomy tubes eventually had tympanic perforation. Hearing loss was moderate in groups 1 through 3 and mild in group 4. Continuous antibiotic therapy could be slightly reduced only in group 4. Central complex defect was a significant marker of severity for all these criteria. Despite continuous antibiotic therapy, the middle ear condition in PCD remained severe throughout childhood, with improvement only after age 18 years. Armstrong grommet placement did not improve the middle ear condition. Central complex defect is a marker of severity.

Acute Otitis Media Caused byMoraxella catarrhalis:Epidemiologic and Clinical Characteristics

This study describes the epidemiologic, microbiologic, and otologic features and selected signs and symptoms of acute otitis media (AOM) caused by Moraxella catarrhalis and compares them with AOM caused by other bacterial pathogens. Patients aged <5 years with culture-positive AOM from whom a middle ear fluid specimen was obtained and cultured during 1999-2006 were enrolled in the study. Of a total of 12,799 AOM episodes, 8198 (64%) were culture positive, with isolation of 10,382 pathogens: Haemophilus influenzae, 4982 (48.0%); Streptococcus pneumoniae, 4450 (42.9%); M. catarrhalis, 501 (4.8%); and group A streptococci, 449 (4.3%). The distribution of single versus mixed M. catarrhalis infection was significantly different compared with the 3 other pathogens (165 cases [32.9%] as a single pathogen of all M. catarrhalis AOM episodes vs 3108 [62.4%] in AOM caused by H. influenzae, 2592 [58.2%] in AOM caused by S. pneumoniae, and 304 [67.7%] in AOM caused by group A streptococci; P < .001 for all comparisons). In multivariate analysis, M. catarrhalis AOM was more frequent in patients experiencing their first AOM episode versus recurrent AOM and mixed infections. M. catarrhalis AOM was associated with lower proportions of spontaneous perforation of tympanic membrane compared with all other pathogens. None of the AOM episodes caused by M. catarrhalis was associated with mastoiditis. Compared with AOM caused by other pathogens, AOM caused by M. catarrhalis is characterized by a higher proportion of mixed infections, younger age at diagnosis, a lower proportion of spontaneous perforation of the tympanic membrane, and no mastoiditis.

Stapes Ankylosis in a Family with a Novel NOG Mutation: Otologic Features of the Facioaudiosymphalangism Syndrome

To report the phenotype-genotype correlation in a Belgian family that was ascertained to have a novel missense mutation in the NOG gene mapping to chromosome 17q22. To describe the phenotype, a retrospective case study was performed based on the otologic, audiologic, ophthalmologic, and radiologic data of the mutation carriers of the NOG gene. Tertiary referral center. All members of a Belgian kindred who carried the novel missense mutation in the NOG gene (NOG, Trp205Cys [W205C]; 1426G>C). Diagnostic otologic and ophthalmologic examination, audiometric analysis, and radiologic imaging. Phenotype-genotype correlations. All five mutation carriers had a typical facies. Bilateral proximal symphalangism and hyperopia were present in 80%. Five of 10 ears also had progressive early-onset conductive hearing loss caused by stapes ankylosis. So far, 14 independent NOG mutations have been identified. The autosomal dominant disorder described in the present family was caused by a novel NOG missense mutation (NOG, Trp205Cys [W205C]; 1426G>C). The phenotype correlated well with the facioaudiosymphalangism syndrome. The mutation carriers demonstrated progressive multiple joint fusions, hyperopia, early-onset conductive deafness, and a typical facies.