Raras
Buscar doenças, sintomas, genes...
Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Síndrome rara autossômica dominante caracterizada por atresia do canal auditivo externo, pé em mata-borrão (talo vertical) e hipertelorismo. Pode apresentar exotropia, estenose pilórica, luxação congênita do quadril e deficiência auditiva condutiva.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
10
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
3 sintomas
👂
Ouvidos
3 sintomas
😀
Face
2 sintomas
👁️
Olhos
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

90%prev.
Atresia do canal auditivo externo
Muito frequente (99-80%)
55%prev.
Clinodactilia do quinto dedo
Frequente (79-30%)
55%prev.
Deficiência auditiva
Frequente (79-30%)
55%prev.
Hipertelorismo
Frequente (79-30%)
17%prev.
Pregas palmares transversas únicas bilaterais
Ocasional (29-5%)
17%prev.
Estrabismo
Ocasional (29-5%)
15sintomas
Muito frequente (1)
Frequente (3)
Ocasional (2)
Sem dados (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.

Atresia do canal auditivo externoAtresia of the external auditory canal
Muito frequente (99-80%)90%
Clinodactilia do quinto dedoClinodactyly of the 5th finger
Frequente (79-30%)55%
Deficiência auditivaHearing impairment
Frequente (79-30%)55%
HipertelorismoHypertelorism
Frequente (79-30%)55%
Pregas palmares transversas únicas bilateraisBilateral single transverse palmar creases
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202444 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo

Centros para Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Functional and Radiological Profile of Spontaneous Autoplugging in Superior Canal Dehiscence.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology2026 Mar 17

To characterize the clinical, radiologic, and electrophysiological features of spontaneous autoplugging in superior semicircular canal dehiscence (SSCD) and compare them to untreated and surgically treated cases. This retrospective observational study was conducted in a tertiary referral center in Paris, France. Fifty-nine SSCD ears were categorized into 3 groups: untreated (n=36), autoplugging (n=5), and surgically plugged (n=18). Autoplugging was defined as the absence of a fluid signal in the dehiscent canal on high-resolution 3D T2-weighted MRI in patients with no history of ear surgery. All patients underwent clinical assessment, audiometry, video head impulse test (vHIT), cervical vestibular-evoked myogenic potentials (cVEMP), and high-resolution imaging. Group comparisons used nonparametric tests with FDR correction and power analysis. vHIT gain was significantly reduced in both the autoplugging (0.56 ± 0.09) and surgical groups (0.57 ± 0.13) compared with untreated SSCD (0.77 ± 0.19, P=0.0003). The reduction was confined to the superior canal, whereas lateral and posterior canal gains remained normal. Autophony persisted in the autoplugging group (80%) but was significantly reduced in the surgical group (22.2%, P<0.0001). cVEMP thresholds were abnormally low in untreated (62.0 ± 11.1 dB) and autoplugging ears (62.5 ± 9.6 dB), and significantly higher post-surgery (83.5 ± 12.3 dB, P<0.001). Autoplugging mimics surgical plugging in terms of canal dysfunction but fails to alleviate third-window symptoms. It may represent an incomplete, spontaneous adaptation in SSCD pathophysiology. Level 3.

#2

Pre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.

Cureus2026 Feb

Purpose Congenital sensorineural hearing loss (SNHL) is a major childhood disability, and early cochlear implantation offers optimal auditory and language outcomes. High-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) are essential in evaluating candidacy, identifying inner ear malformations (IEMs), assessing cochlear nerve integrity, and predicting surgical challenges. This study evaluates the role of HRCT and MRI in pediatric cochlear implant candidates and correlates imaging findings with intraoperative events and postoperative outcomes. Methods This retrospective study included 32 children (<7 years) with congenital SNHL who underwent HRCT and MRI of the temporal bones. HRCT assessed mastoid pneumatization, middle ear status, vascular variants, facial recess anatomy, and cochlear morphology. MRI evaluated the membranous labyrinth, cochleovestibular nerve, internal auditory canal (IAC), and brain. Exclusion criteria included lack of consent, age >7 years, metallic implants, pacemakers, or prior cochlear implantation. Surgical records were retrospectively reviewed to assess operative complexity, including duration of surgery, intraoperative challenges, and complications encountered. Results Among 32 patients (mean age 2.9 years), mastoid aeration was normal in 81.25%, and the middle ear cavity was aerated in 90.63%. Sigmoid sinus variants, high-riding jugular bulbs (18.75%), and low-lying dural plates (34.38%) were common. Vestibular aqueduct anomalies were identified in 18.75%. The cochlear aperture was normal in 74.88%, widened in 12.5%, and stenosed in 6.25%. Inner ear malformations were present in 15.63%, including large vestibular aqueduct syndrome (LVAS), incomplete partitions, and cochlear hypoplasia, with cochlear nerve aplasia in two cases. Nineteen patients underwent cochlear implantation; all IEM cases experienced intraoperative perilymphatic gushers, consistent with imaging predictions. All surgeries used the transmastoid facial recess approach with an extended round window technique. Postoperative recovery was uneventful in all cases. Conclusions HRCT and MRI together provide a comprehensive assessment of pediatric cochlear implant candidates, enabling precise identification of IEMs, cochlear nerve anomalies, and surgical risk factors. Imaging reliably predicts intraoperative challenges such as gushers and aids in tailoring surgical approaches. A combined CT-MRI protocol is indispensable for optimizing safety, minimizing complications, and enhancing postoperative outcomes in pediatric cochlear implantation.

#3

Herpes Zoster Oticus: Systematic Review of Clinical Prognostic Factors.

International archives of otorhinolaryngology2026 Jan

Herpes Zoster Oticus is etiologically associated with the reactivation of the Varicella-Zoster virus in the geniculate ganglion. Its primary manifestation includes pain, vesicles in the external auditory canal, and peripheral facial paralysis. The prognosis of the syndrome remains under scrutiny and debate, fluctuating based on symptom severity and clinical manifestation. The scarcity of articles accurately correlating clinical presentation and prognosis, coupled with individual factors and the syndrome's rarity, constrains more comprehensive analyses. To conduct a systematic review to determine whether it is possible to predict the prognosis of RHS based on clinical factors. This study identified a total of 6,464 articles within the databases, which were subsequently evaluated by two independent researchers. Sixty-two articles underwent full-text examinations, and following meticulous selection criteria, twelve articles were ultimately incorporated into this study. Factors such as age, onset of House-Brackmann degree, dizziness, hearing loss, time to treatment initiation, and comorbidities appear to exert influence on prognosis. The articles exhibit methodological limitations and discrepancies among them, stemming from variations in prognostic concepts, treatment protocols, evaluation timing, or reported outcomes. These variations hinder the possibility of conducting a methodologically sound comparison, regardless of how closely aligned the trials are with the theme. The review concludes that it is not possible to definitively assert the presence of a clinical parameter defining the prognosis in Herpes Zoster Oticus.

#4

A theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.

Acta oto-laryngologica2026 Mar 05

We were astonished after reading reports that superior semicircular canal dehiscence can cause auditory hypersensitivity such as hearing sounds of eye movements. The mechanisms underlying auditory hypersensitivity remain incompletely understood. The aim of this hypothesis-generating, theoretical consideration was to propose a new theory regarding the mechanisms responsible for auditory symptoms in patients with superior semicircular canal dehiscence and to explore related aspects of auditory physiology. Auditory symptoms were analyzed through 23 published reports. Auditory hypersensitivity occurred at a high frequency. They can be classified into two categories according to the sound source. (1) Symptoms caused by internal sources (without going through the stapes): hearing the movements of one's own eyeballs, pulsatile tinnitus and so on. (2) Symptoms caused by external sources: echoing of voices during phone calls, echoing of car horns, and so on. Auditory hypersensitivity can be explained by the endolymph conduction theory. The mechanism of sound perception may also be explained by this theory, in which sound waves are transmitted through the saccule, ductus reuniens, cochlear duct, tectorial membrane, stimulating hair cells.

#5

Transcranial Photobiomodulation for Neuromodulation of Brain Disorders: A Perspective.

Neuromodulation : journal of the International Neuromodulation Society2026 Feb 05

Photobiomodulation (PBM) uses light to modulate biological activity. Because red and near-infrared wavelengths penetrate the skin and skull, PBM can be applied transcranially (tPBM) to noninvasively modulate brain activity, offering therapeutic potential for neurologic, psychiatric, neurodevelopmental, neurodegenerative, and neuroimmunologic disorders, and for cognitive enhancement. A scoping review is performed integrating literature on tPBM in humans, excluding indications for which only preclinical data exist. tPBM can be delivered through the scalp, nose, oral cavity, or external ear canal, in continuous or pulsed modes, with varying wavelengths and doses. It exhibits a biphasic dose-response, meaning both under- and overstimulation are possible. tPBM directly enhances cellular energy metabolism, oxygenation, and neuroprotection by stimulating mitochondria, promoting repair, reducing apoptosis, and modulating neuroinflammation. It supports neurogenesis, synaptogenesis, angiogenesis, and microtubule plasticity, and activates the glymphatic clearance system. Additional effects include transient receptor potential vanilloid 1 calcium channel modulation, intercellular mitochondrial transfer, and immune cell recruitment. Preclinical studies indicate benefits in epilepsy, hypoxic-ischemic lesions, intraventricular hemorrhage, and posttraumatic stress disorder, whereas clinical studies cover stroke, traumatic brain injury, chronic traumatic encephalopathy, autism spectrum disorder, attention-deficit/hyperactivity disorder, Down syndrome, Alzheimer's and Parkinson's diseases, anxiety, depression, insomnia, sexual dysfunction, and multiple sclerosis. Optimal tPBM outcomes may depend on multitarget, multiwavelength approaches, and pulsed delivery, likely owing to complementary mechanisms and prevention of excessive reactive oxygen species production. Understanding the full range of illumination parameters is essential to develop personalized protocols. Future research should determine whether tPBM can serve as a standalone therapy or as part of multimodal interventions including pharmacology, psychotherapy, or other neuromodulation techniques.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Functional and Radiological Profile of Spontaneous Autoplugging in Superior Canal Dehiscence.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2026

Pre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.

Cureus
2026

Herpes Zoster Oticus: Systematic Review of Clinical Prognostic Factors.

International archives of otorhinolaryngology
2026

A theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.

Acta oto-laryngologica
2026

Transcranial Photobiomodulation for Neuromodulation of Brain Disorders: A Perspective.

Neuromodulation : journal of the International Neuromodulation Society
2025

Case Report: Ramsay Hunt syndrome with simultaneous bilateral vestibular dysfunction as the initial manifestation in a patient with a history of breast cancer.

Frontiers in immunology
2025

A Delayed Acute Vestibular Syndrome and Diplopia in Ramsay Hunt Syndrome With Absent Facial Nerve Paralysis After Partially Treated Varicella-Zoster Virus (VZV) Oticus.

Cureus
2026

Cochlear Implantation Via Extended Endaural Incision in a Patient With Congenital Ear Malformation.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2026

Human otoacariasis by Amblyomma testudinarium identified with 16S rRNA gene sequencing.

Auris, nasus, larynx
2026

Perilymphatic Fistula Revisited: A Histopathologic Study of Inner Ear Dehiscence and Possible Third Window Syndrome.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2025

Vestibular Aqueduct Hypoplasia Identifies Semicircular Canal Dehiscence Patients Who Progress to Meniere's Disease.

Otology &amp; neurotology open
2025

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.

Molecular syndromology
2025

Kissing Cochlea: An Extreme Inner Ear Malformation, Novel Surgical Approach via Cystic Vestibule.

The Laryngoscope
2025

Tmprss3 is expressed in several cell types of the inner ear including type II but hardly in type I spiral ganglion neurons.

Frontiers in cellular neuroscience
2025

Prevalence of the Huschke Foramen in Colombian Population: An Important Anatomic Alteration for the Planning of TMJ Arthroscopy.

Journal of maxillofacial and oral surgery
2026

Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.

European journal of radiology
2025

Very Rare Case of Hyaline Fibromatosis Syndrome Successfully Treated with Surgical Excision and Review of Literature.

Archives of plastic surgery
2025

[Semicircular canal dehiscence syndrome: a variety of complaints and treatment difficulties].

Vestnik otorinolaringologii
2026

Craniofacial fibrous dysplasia: Long-term postoperative outcomes in a retrospective case series with up to 40 years of follow-up.

Bone
2025

Hemifacial spasms caused by compression of the labyrinthine artery on the facial nerve in the internal auditory canal: a case report and review of the literature.

Journal of medical case reports
2026

[Brooke-Spiegler syndrome: dermatosurgical management of extensive tumors on the external auditory canal].

Dermatologie (Heidelberg, Germany)
2025

Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.

Journal of otology
2025

Pharyngolaryngeal Involvement by Varicella Zoster Virus: A Rare Case and Literature Review.

Cureus
2026

Secondary Reinforcement of the Round Window to Treat Residual Hyperacusis in Patients With Superior Semicircular Canal Dehiscence Syndrome.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2025

Superior canal dehiscence syndrome induces canal-specific kinematic adaptations during locomotion.

Scientific reports
2025

Radiological Characterization of Malformations of the Internal Auditory Canal.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2026

Surgical management of otitis media in pet rabbits by partial ear canal ablation without bulla osteotomy: a retrospective study of 26 cases.

Journal of the American Veterinary Medical Association
2026

The role of the window-damping test in preoperative decision-making for semicircular canal dehiscence syndrome.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

Influence of obesity and socio-linguistic factors on otitis externa treatment outcomes in children.

International journal of pediatric otorhinolaryngology
2025

An Atypical Case of Varicella Meningitis in a Young Immunocompetent Male Patient With a Possible Concomitant Case of Ramsay-Hunt Syndrome.

Cureus
2025

Vestibular Deficit in Patients with Waardenburg Syndrome.

Biomedicines
2025

Early-Onset Ramsay Hunt Syndrome After Pembrolizumab Administration in a Patient With Lung Adenocarcinoma.

Cureus
2025

A novel mouse model of acute vestibular dysfunction via semicircular canal injection of absolute ethanol.

Hearing research
2025

Diagnosis and management of bilateral and multiple semicircular canal dehiscence: a case report.

The Pan African medical journal
2025

Feingold syndrome with GJB2 variants.

Auris, nasus, larynx
2025

Sodium Channel Blockers for Vestibular Paroxysmia in Children.

Audiology research
2025

Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort.

Birth defects research
2025

Early-Onset Hearing Loss in Leber's Hereditary Optic Neuropathy: A Case Report.

Ear, nose, &amp; throat journal
2025

Dizziness in postural tachycardia syndrome and its link to vestibular migraine.

Frontiers in neurology
2025

CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.

Cureus
2025

Double dehiscence (Superior semicircular canal and tegmen tympani) in the epicampaniform period (Arboli type).

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

Systematic Review on Microtia: Current Knowledge and Future Directions.

Children (Basel, Switzerland)
2025

Third Window Syndrome: An Up-to-Date Systematic Review of Causes, Diagnosis, and Treatment.

Journal of audiology &amp; otology
2025

[Laparoscopic and robotic ultralow sphincter-saving operation and intersphincteric resection for rectal cancer:prevention and management for major complications].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2025

Mucoepidermoid carcinoma of the parotid gland with invasion of the jugular foramen region: A case report.

Medicine
2025

Unmasking Villaret's syndrome: a diagnostic challenge of glomus jugulare mimicking mastoiditis.

Annals of medicine and surgery (2012)
2025

Red colour of a painful ear: red ear syndrome in paediatric age.

BMJ case reports
2025

Nervus intermedius sectioning for the treatment of geniculate neuralgia.

Journal of neurosurgery
2025

Analysis of 42 bilateral microtia reconstruction: Comparative study and surgical characteristics.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Characteristics of the Facial Canal-Lateral Canal Dehiscence: The Under-recognized Third Window.

OTO open
2025

A Case of McCune-Albright Syndrome with External Auditory Canal Stenosis Treated with Image-Guided Surgery System-Assisted Temporal Bone Surgery.

The journal of international advanced otology
2025

Vestibular paroxysmia: a systematic review.

Journal of neurology
2025

First branchial cleft anomalies in children: long-term outcome in 16 patients.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

Spectrum of Otological Manifestations in Treacher Collins Syndrome: A Case Series of 9 Patients.

Journal of computer assisted tomography
2024

Knockout of dhx38 Causes Inner Ear Developmental Defects in Zebrafish.

Biomedicines
2024

A Rare Case of Ramsey Hunt Syndrome With Cranial Polyneuropathy: Findings of the Brain MRI.

Cureus
2025

Ocular examinations before and after total ear canal ablation and bulla osteotomy can help recognize and prevent potential vision-threatening abnormalities in cats and dogs.

Journal of the American Veterinary Medical Association
2024

Selective otolithic dysfunction in patients presenting with acute spontaneous vertigo: consideration based on MRI.

Frontiers in neurology
2025

Investigation of Third Window Symptoms in Patients With Enlarged Vestibular Aqueduct: A Pilot Study.

OTO open
2025

[Effects of cochlear implantation on vestibular function in patients with large vestibular aqueduct syndrome].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
2024

Pediatric glossopharyngeal neuralgia with incidental trigeminal compression treated using microvascular decompression: illustrative case.

Journal of neurosurgery. Case lessons
2024

Novel Otolaryngological and Radiological Manifestations in GAPO Syndrome.

Ear, nose, &amp; throat journal
2024

An Analysis of Hearing Outcomes in Children with Hutchinson-Gilford Progeria Syndrome.

British journal of hospital medicine (London, England : 2005)
2024

Audio-Vestibular Evaluation of Pediatric Pseudo-Conductive Hearing Loss: Third Window Syndromes.

Audiology research
2024

[Treacher Collins Syndrome 2 caused by a novel pathogenic variant in PLOR1D: clinical report and literature review].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2024

Hemifacial spasms triggered by compression of tortuous anterior inferior cerebellar artery loop on the facial nerve in the internal auditory canal: A case report.

Medicine
2024

Reduced unilateral sweating caused by varicella zoster virus infection: a case report.

BMC neurology
2024

Symptomatology in Unilateral Versus Bilateral Superior Canal Dehiscence Patients Undergoing Unilateral Surgery.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2024

Prevalence of Anterior Inferior Cerebellar Artery Vascular Loop in Cerebellopontine Angle With Three-Dimensional Constructive Interference in Steady State (CISS) Sequence MRI.

Cureus
2024

Association Between Superior Canal Dehiscence Syndrome and Anxiety and Depressive Disorders.

The Laryngoscope
2024

Minor's syndrome: Dehiscence of the superior semicircular canal. A case report.

Radiology case reports
2024

Ramsay Hunt syndrome in atopic dermatitis patient treated with dupilumab.

International immunopharmacology
2024

Unveiling the importance of the endoscope in the sealing of the superior canal dehiscence syndrome, how we do it.

Neurocirugia
2024

Demographic, Functional, and Risk Factors Characterization in Ecuadorian Mestizo Patients With Microtia: A Retrospective Study.

The Journal of craniofacial surgery
2024

Case 15-2024: A 73-Year-Old Woman with Worsening Rash.

The New England journal of medicine
2024

Diagnostic Yield of Patients Undergoing Evaluation of Possible Superior Canal Dehiscence.

The Laryngoscope
2024

Otic Capsule Dehiscences Simulating Other Inner Ear Diseases: Characterization, Clinical Profile, and Follow-Up-Is Ménière's Disease the Sole Cause of Vertigo and Fluctuating Hearing Loss?

Audiology research
2024

Identification of a de novo PUF60 variant associated with craniofacial microsomia.

American journal of medical genetics. Part A
2024

[Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2024

Genotype-phenotype associations in microtia: a systematic review.

Orphanet journal of rare diseases
2024

Predictors of non-primary auditory and vestibular symptom persistence following surgical repair of superior canal dehiscence syndrome.

Frontiers in neurology
2024

Perplexing First Branchialcleft Anomalies-A Case Series with Review of Literature.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2024

CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.

Proceedings of the National Academy of Sciences of the United States of America
2024

Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review.

BMC ophthalmology
2024

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Brain : a journal of neurology
2024

Analysis of etiology and clinical features of spontaneous downbeat nystagmus: a retrospective study.

Frontiers in neurology
2024

Genetics and Epigenetics in the Genesis and Development of Microtia.

The Journal of craniofacial surgery
2024

Unusual Atrophic Nervus Intermedius in a Patient with Refractory Nervus Intermedius Neuralgia and History of Ipsilateral Sudden-Onset Central Facial Palsy and Sensorineural Hearing Loss: Cadaveric-Clinical Images with Surgical Video.

World neurosurgery
2024

Cholesteatoma Severity Determines the Risk of Recurrent Paediatric Cholesteatoma More Than the Surgical Approach.

Journal of clinical medicine
2024

[Semicircular canal occlusion].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
2024

[The application of endoscope and microscope in the stapes surgeries].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
2023

Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction.

Frontiers in genetics
2024

Detailed analysis of inner ear malformations in CHARGE syndrome patients - correlation with audiological results and proposal for computed tomography scans evaluation methodology.

Brazilian journal of otorhinolaryngology
2024

Narrowing of Low-Frequency Air-Bone Gap and Its Association with Symptom Resolution Following Superior Canal Dehiscence Repair.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2023

The "Near"-Narrowed Internal Auditory Canal Syndrome in Adults: Clinical Aspects, Audio-Vestibular Findings, and Radiological Criteria for Diagnosis.

Journal of clinical medicine
2023

Applications of visualizing cochlear basal turn in cochlear implantation.

Laryngoscope investigative otolaryngology
2024

Vascular variation of temporoparietal fascia in microtia associated with hemifacial microsomia.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2023

Cerebellopontine angle tumor presenting as acute audiovestibular syndrome.

Acta oto-laryngologica
2024

Third window lesions of the inner ear: A pictorial review.

American journal of otolaryngology
2024

Trans-mastoid anchorage as a novelty in glenoid fossa reconstruction for hemifacial microsomia with agenesis of zygomatic arch and external acoustic meatus-Technical note with a case illustration.

Journal of stomatology, oral and maxillofacial surgery
2023

A clinical epidemiological study on congenital ear malformation (CEM).

Acta oto-laryngologica
2023

Cri-Du-Chat Syndrome - A Rare Case Report.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2024

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.

Molecular genetics &amp; genomic medicine
2023

Hearing Results after Transmastoid Superior Semicircular Canal Plugging for Superior Semicircular Canal Dehiscence: A Meta-Analysis.

Audiology research
2023

An evidenced-based diagnostic tool for superior semicircular canal dehiscence syndrome.

Journal of otology
2023

Clinical Features and Neurotologic Findings in Patients With Acute Unilateral Peripheral Vestibulopathy Associated With Antiganglioside Antibody.

Neurology
2023

Conductive Hearing Loss in Children.

Neuroimaging clinics of North America
2024

Superior canal dehiscence syndrome: A review.

Auris, nasus, larynx
2023

Why should multiple dehiscences of the otic capsule be considered before surgically treating patients with superior semicircular canal dehiscence? A radiological monocentric review and a case series.

Frontiers in neurology
2024

Vulvar-vaginal-gingival-otic syndrome.

Experimental dermatology
2023

HFA analysis using scalp electroencephalograms in two cases of Rasmussen's syndrome.

Epilepsy research
2023

Case report: Villaret's syndrome caused by middle ear adenocarcinoma in a cat.

Frontiers in veterinary science
2023

Congenital Anomalies of the Ear Canal.

Otolaryngologic clinics of North America
2023

[Method of registration of vestibular myogenic evoked potentials in the diagnosis of diseases of the inner ear].

Vestnik otorinolaringologii
2023

Lateral semicircular canal dilatation in a patient with congenital hearing loss due to α-tectorin mutation: microanatomical considerations.

BMJ case reports
2023

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.

Biomedicines
2023

Dermatological Problems of Brachycephalic Dogs.

Animals : an open access journal from MDPI
2023

A bone-conducted Tullio phenomenon-A bridge to understand skull vibration induced nystagmus in superior canal dehiscence.

Frontiers in neurology
2023

Characteristics of large vestibular aqueduct syndrome in wideband acoustic immittance.

Frontiers in neuroscience
2023

Cochlear Aqueduct Morphology in Superior Canal Dehiscence Syndrome.

Audiology research
2023

[Atresia or severe stenosis of the external auditory canals with normal auricles in children].

Vestnik otorinolaringologii
2023

Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.

The Laryngoscope
2023

Influence of extreme brachycephalic conformation on perioperative complications associated with total ear canal ablation and lateral bulla osteotomy in 242 dogs (2010-2020).

Veterinary surgery : VS
2023

Auditory and Vestibular Symptom Improvement With Surgery for Superior Canal Dehiscence Syndrome.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2023

Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.

Genes
2023

Types of Inheritance and Genes Associated with Familial Meniere Disease.

Journal of the Association for Research in Otolaryngology : JARO
2025

Bonebridge Implantation in Treacher-Collins Syndrome With Conductive Hearing Loss-Case Report.

Ear, nose, &amp; throat journal
2023

[Anomalous bony portion of the Eustachian tube].

Vestnik otorinolaringologii
2023

Semi-Permanent Ear (Aguille SP) Needle "Migration" into the External Auditory Canal.

Medical acupuncture
2023

Three-dimensional wideband absorbance immittance findings in young adults with large vestibular aqueduct syndrome.

Laryngoscope investigative otolaryngology
2023

Vestibular Loss in Children Affected by LVAS and IP2 Malformation and Operated with Cochlear Implant.

Audiology research
2023

Investigation of serum calcium and vitamin D levels in superior semicircular canal dehiscence syndrome: A case control study.

Journal of otology
2023

[Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
2022

New model of superior semicircular canal dehiscence with reversible diagnostic findings characteristic of patients with the disorder.

Frontiers in neurology
2023

Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.

American journal of medical genetics. Part A
2022

VOR gain of lateral semicircular canal using video head impulse test in acute unilateral vestibular hypofunction: A systematic review.

Frontiers in neurology
2022

A novel three-step process for the identification of inner ear malformation types.

Laryngoscope investigative otolaryngology
2023

Direction-changing spontaneous nystagmus in patients with dizziness.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2023

Effects of endolymphatic space volume on discrepancy of results between caloric test and video head impulse test.

Auris, nasus, larynx
2022

Features of Audio-Vestibular Deficit and 3D-FLAIR Temporal Bone MRI in Patients with Herpes Zoster Oticus.

Viruses
2022

Hemorrhagic vestibular schwannoma: a case example of vestibular apoplexy syndrome. Illustrative case.

Journal of neurosurgery. Case lessons
2022

Otalgia revealing McCune-Albright syndrome: A case report.

Annals of medicine and surgery (2012)
2023

Internal auditory canal volume in normal and malformed inner ears.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2022

[Management of microtia in children].

Revue medicale suisse
2022

Proteus syndrome with sciatic nerve fibrolipomatous hamartoma: an uncommon finding in a rare disease: report of two cases with literature review.

BJR case reports
2022

Comparison of vestibular ocular reflex and gross motor development in children with semicircular canal aplasia and hypoplasia.

International journal of pediatric otorhinolaryngology
2021

Clinical and histopathological principles for the diagnosis of a recurrent paraganglioma of the jugular foramen initially diagnosed as a middle ear adenoma: illustrative case.

Journal of neurosurgery. Case lessons
2024

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

Clinical case control study analysis of vestibular function in patients with obstructive sleep apnea-hypopnea syndrome.

Annals of palliative medicine
2022

Development of semicircular canal occlusion.

Frontiers in neuroscience
2022

Ramsay Hunt Syndrome With Cranial Polyneuropathy and Delayed Facial Nerve Palsy: A Case Report.

Cureus
2022

Postmastoidectomy Hyperacusis Syndrome: Clinical Features and Treatment.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2022

A Case of Collet-Sicard Syndrome Caused by Otitis Externa.

Cureus
2022

The Narrowed Internal Auditory Canal: A Distinct Etiology of Pediatric Vestibular Paroxysmia.

Journal of clinical medicine
2022

Metastatic Ceruminous Adenoid Cystic Carcinoma of the Lumbar Spine Causing Neurological Compromise: A Case Report.

Geriatric orthopaedic surgery &amp; rehabilitation
2022

Description of a New Labyrinthine Dehiscence: Horizontal Semicircular Canal Dehiscence at the Tympanic Segment of the Facial Nerve.

Frontiers in neurology
2022

Congenital aural atresia and first branchial cleft anomalies: Cholesteatoma and surgical management.

Laryngoscope investigative otolaryngology
2022

Video Head Impulse Test Findings in Patients With Benign Paroxysmal Positional Vertigo Secondary to Idiopathic Sudden Sensorineural Hearing Loss.

Frontiers in neurology
2022

Exploring the middle ear function in patients with a cluster of symptoms including tinnitus, hyperacusis, ear fullness and/or pain.

Hearing research
2022

Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.

American journal of medical genetics. Part A
2022

Case Report: Fremitus Nystagmus in Superior Canal Dehiscence Syndrome.

Frontiers in neurology
2022

Superior semi-circular canal dehiscence syndrome: quantifying the effectiveness of treatment from the patient's perspective.

The Journal of laryngology and otology
2022

[Otologic disorders and management strategies in Turner syndrome].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2022

Contraction of the stapedius and tensor tympani muscles explored by tympanometry and pressure measurement in the external auditory canal.

Hearing research
2023

Association of Ear Anomalies and Hearing Loss Among Children With 22q11.2 Deletion Syndrome.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2022

Prevalence and surgical management of cholesteatoma in Down Syndrome children.

International journal of pediatric otorhinolaryngology
2022

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?

European journal of medical genetics
2022

[Design and application of a cooling device based on the phase-change material for heat stroke].

Zhonghua wei zhong bing ji jiu yi xue
2022

Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.

BMC medical genomics
2022

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.

Molecular biology reports
2022

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis.

The Journal of craniofacial surgery
2022

Bilateral cholesterol granulomas in the middle ear cavities of a cat with sinonasal disease successfully removed via video-otoscopy.

Journal of the American Veterinary Medical Association
2022

A case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome.

Brain &amp; development
2022

Mechanical ventilation and middle ear effusions among tracheostomy-dependent children.

International journal of pediatric otorhinolaryngology
2022

Etiologies of hearing loss in Fanconi Anemia.

International journal of pediatric otorhinolaryngology
2022

Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review.

International journal of oral and maxillofacial surgery
2022

Superior semicircular canal dehiscence syndrome.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
2022

Kaposiform Hemangioendothelioma of Internal Auditory Canal Presenting in 4-Week-Old Newborn.

JAMA otolaryngology-- head &amp; neck surgery
2022

Hearing Outcomes of Transmastoid Plugging for Superior Canal Dehiscence Syndrome by Underwater Endoscopic Surgery: With Special Reference to Transient Bone Conduction Increase in Early Postoperative Period.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2021

Bilateral Superior Semicircular Canal Dehiscence Concurrent With Ehlers-Danlos Syndrome: A Case Report.

Cureus
2022

[Chronic otitis media complicated by Bezold's abscess and lateral sinus thrombophlebitis].

Le Mali medical
2021

Neurotrophic corneal ulcer and iridocyclitis directly preceding Ramsay-Hunt Syndrome.

American journal of ophthalmology case reports
2022

Low accuracy of 1.5 Tesla magnetic resonance imaging in identification of the bony defect in patients with superior semi-circular canal dehiscence syndrome: case-control study.

The Journal of laryngology and otology
2022

Asymptomatic superior semicircular canal dehiscence.

The Journal of laryngology and otology
2022

Ramsay Hunt syndrome with multiple cranial neuropathy: a literature review.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2021

A novel method of identifying inner ear malformation types by pattern recognition in the mid modiolar section.

Scientific reports
2021

Identifying the Clinical Signs on the Healthy Side Using Video Head Impulse Test During Different Stages of Vestibular Neuritis.

The journal of international advanced otology
2021

[Superior canal dehiscence syndrome].

Revue medicale suisse
2021

A case report of refractory otalgia after Ramsay Hunt syndrome successfully treated by applying pulsed radiofrequency to the great auricular nerve: A CARE-compliant article.

Medicine
2021

We refuse to die - T cells causing havoc.

Biomedical journal
2021

Musical hallucinations in cerebrovascular disease.

Postepy psychiatrii neurologii
2021

Alternative Inverted Middle Fossa Approach in Bonebridge Surgery. Technique, Results and Complications.

International archives of otorhinolaryngology
2021

[Clinical and genetic analysis of a child with Niikawa-Kuroki syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Selected Otologic Disorders Causing Dizziness.

Continuum (Minneapolis, Minn.)
2021

Metachronous Skull Base Paraganglioma Surgical Management: 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2023

Bilateral Orbital Apex Syndrome Related to Sphenoid Fungal Sinusitis.

Ear, nose, &amp; throat journal
2023

Simultaneous Sudden Hearing Loss and Peripheral Facial Paralysis in a Patient With Covid-19.

Ear, nose, &amp; throat journal
2021

Behavioral Therapy for Muscular Objective Tinnitus in Forceful Eyelid Closure Syndrome (FECS): A Case Report.

The journal of international advanced otology

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Functional and Radiological Profile of Spontaneous Autoplugging in Superior Canal Dehiscence.
    Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology· 2026· PMID 41839798mais citado
  2. Pre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.
    Cureus· 2026· PMID 41835743mais citado
  3. Herpes Zoster Oticus: Systematic Review of Clinical Prognostic Factors.
    International archives of otorhinolaryngology· 2026· PMID 41821953mais citado
  4. A theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.
    Acta oto-laryngologica· 2026· PMID 41782566mais citado
  5. Transcranial Photobiomodulation for Neuromodulation of Brain Disorders: A Perspective.
    Neuromodulation : journal of the International Neuromodulation Society· 2026· PMID 41642156mais citado
  6. Perilymphatic Fistula Revisited: A Histopathologic Study of Inner Ear Dehiscence and Possible Third Window Syndrome.
    Otol Neurotol· 2026· PMID 41486466recente
  7. [Semicircular canal dehiscence syndrome: a variety of complaints and treatment difficulties].
    Vestn Otorinolaringol· 2025· PMID 41211905recente
  8. Feingold syndrome with GJB2 variants.
    Auris Nasus Larynx· 2025· PMID 40695665recente
  9. Red colour of a painful ear: red ear syndrome in paediatric age.
    BMJ Case Rep· 2025· PMID 40086842recente
  10. Association Between Superior Canal Dehiscence Syndrome and Anxiety and Depressive Disorders.
    Laryngoscope· 2024· PMID 38924149recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3023(Orphanet)
  2. OMIM OMIM:133705(OMIM)
  3. MONDO:0007587(MONDO)
  4. GARD:4638(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55780577(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo

ORPHA:3023 · MONDO:0007587
Prevalência
<1 / 1 000 000
Casos
10 casos conhecidos
Herança
Autosomal dominant, Not applicable, Unknown
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1876181
Wikidata
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