Raras
Buscar doenças, sintomas, genes...
Anomalias renais, genitais e do ouvido médio

A Anemia de Fanconi (AF) é uma doença genética que afeta crianças e adultos de todos os grupos étnicos. A doença foi nomeada pelo pediatra suíço que originalmente descreveu esta desordem, Guido Fanconi. Não deve ser confundida com a síndrome de Fanconi, uma desordem renal também nomeada por Fanconi.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Síndrome rara autossômica recessiva caracterizada por deficiência auditiva, hipoplasia/aplasia renal e anomalias genitais, como atresia vaginal. A morfologia anormal dos ossículos da orelha média contribui para a perda auditiva.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PE, BA, CE, PB +10
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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

👂
Ouvidos
2 sintomas
🫘
Rins
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

Deficiência auditiva
Hipoplasia/aplasia renal
Atresia vaginal
Morfologia anormal dos ossículos da orelha média
Herança autossômica recessiva
5sintomas
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.

Deficiência auditivaHearing impairment
Hipoplasia/aplasia renalRenal hypoplasia/aplasia
Atresia vaginalVaginal atresia
Morfologia anormal dos ossículos da orelha médiaAbnormality of the middle ear ossicles
Herança autossômica recessivaAutosomal recessive inheritance

Linha do tempo da pesquisa

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Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026125 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

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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 — Anomalias renais, genitais e do ouvido médio

Centros de Referência SUS

24 centros habilitados pelo SUS para Anomalias renais, genitais e do ouvido médio

Centros para Anomalias renais, genitais e do ouvido médio

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

Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.

Ophthalmology science2026 Apr

Este estudo utiliza uma nova tecnologia, a OCT de Luz Visível (VL-OCT), para examinar detalhadamente a miopia patológica, focando em "lacquer cracks" agudas com hemorragia e crônicas. A VL-OCT permitiu identificar alterações estruturais mínimas na membrana de Bruch e no epitélio pigmentar da retina, e pela primeira vez, quantificar a saturação de oxigênio em sangramentos submaculares. Para pacientes e médicos, esta técnica oferece um avanço na compreensão e diagnóstico de uma condição ocular grave, possibilitando um monitoramento mais preciso da doença e de suas complicações.

🇧🇷 traduzido
#2

Congenital anomalies prevalent in rural population of Dera Ismail Khan, Pakistan: Ethnic inequalities and biodemographic attributes.

Pakistan journal of medical sciences2026 Feb

Este estudo em Dera Ismail Khan, Paquistão, revelou uma alta prevalência de anomalias congênitas, especialmente distúrbios neuromusculares, neurológicos e defeitos sensorioneurais/auditivos, predominantes em pacientes pediátricos de áreas rurais e certas etnias. A consanguinidade parental foi um fator significativo em 71% dos casos, mostrando disparidades importantes na distribuição das anomalias entre grupos étnicos. Para pacientes e médicos, os resultados sublinham a importância de focar em melhor saúde, educação, cuidados pré-natais aprimorados e aconselhamento pré-matrimonial para mitigar o impacto dessas condições na população.

🇧🇷 traduzido
#3

Hyperspectral Imaging for the Classification and Analysis of Drusen in Age-Related Macular Degeneration.

Investigative ophthalmology & visual science2026 Mar 02

Este estudo revelou que diferentes tipos de depósitos drusen (moles, duros e pseudodrusen reticulares), associados à Degeneração Macular Relacionada à Idade (AMD) não-exsudativa, possuem "assinaturas" espectrais únicas através de imagem hiperespectral. Utilizando esta tecnologia, classificadores de inteligência artificial foram capazes de identificar e diferenciar esses depósitos automaticamente com alta precisão (atingindo 99% de especificidade com o Random Forest). Esses achados apoiam a imagem hiperespectral retiniana como uma ferramenta não invasiva e automatizada para mapear drusen e auxiliar médicos na estratificação de risco de pacientes com AMD, potencialmente melhorando o manejo da doença.

🇧🇷 traduzido
#4

Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.

Science progress2026

Este estudo apresenta uma abordagem cirúrgica inovadora para microtia com atresia de conduto auditivo, combinando em um único procedimento a reconstrução da orelha (com Medpor) e a reabilitação auditiva (com implante Vibrant Soundbridge - VSB). Realizado em um adolescente, demonstrou melhora significativa da audição e excelentes resultados estéticos, sem complicações. Para pacientes e médicos, esta técnica oferece a promessa de tratar simultaneamente a aparência e a audição, reduzindo a necessidade de múltiplas cirurgias e otimizando o tratamento para essa condição congênita complexa.

🇧🇷 traduzido
#5

Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.

Clinical medicine insights. Pediatrics2026 Feb 19

Este artigo destaca que em bebês com estridor (dificuldade respiratória) e um hemangioma visível na face, como na orelha, deve-se suspeitar da presença de um hemangioma nas vias aéreas. Confirmado este diagnóstico, é crucial investigar a Síndrome de PHACE, uma condição complexa com múltiplas anomalias. O tratamento com propranolol, neste caso, demonstrou melhora significativa dos sintomas, enfatizando a importância do diagnóstico precoce para médicos e o reconhecimento de sinais por cuidadores.

🇧🇷 traduzido

Publicações recentes

📚 EuropePMCmostrando 200

2026

Hemodynamic Mechanisms in Venous Pulsatile Tinnitus: A 4D Flow MRI Analysis of Transverse-Sigmoid Sinus Abnormalities.

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Clinical and genetic basis of congenital gonadotropin deficiency.

Human reproduction open
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Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.

Ophthalmology science
2026

Cone-Beam CT of the Temporal Bone: Normative Linear Biometry of Inner Ear Structures.

AJNR. American journal of neuroradiology
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Characterising responses in group-housed pigs to Salmonella typhimurium infection through integrated computer vision-based behavioural monitoring and statistical analyses.

Porcine health management
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Idiopathic Musical Ear Syndrome in a Young Adult: A Case Report and Therapeutic Response.

American journal of audiology
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Hearing characteristics of Branchio-oto-renal syndrome in Japan.

Acta oto-laryngologica
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Congenital anomalies prevalent in rural population of Dera Ismail Khan, Pakistan: Ethnic inequalities and biodemographic attributes.

Pakistan journal of medical sciences
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Cureus
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Clinical characteristics of patients showing tympanic membrane pulsation.

Acta oto-laryngologica
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The e ffec t of the nose fo rm o n lin ear and a ngular lip po sitio n in C l as s II patients.

JPMA. The Journal of the Pakistan Medical Association
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Study on the Role of the AMPK/PGC-1α Pathway in Cold-Induced Vascular Endothelial Cell Apoptosis and Uterine Damage.

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Liver abscess caused by Fasciola in children in southern Vietnam.

Transactions of the Royal Society of Tropical Medicine and Hygiene
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Multimodal imaging in conductive hearing loss: Optimising CT, MRI and CTA for accurate diagnosis and management.

SA journal of radiology
2026

A multi-target combinatorial therapy of MDBA alleviates atopic dermatitis via synchronized immunosuppression and barrier repair.

European journal of pharmacology
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Aberrant Internal Carotid Artery: A Rare Cause of Unfitness Revealed During Admission Audiometry.

Military medicine
2026

Evaluation of S-Value in relation to cochlear anatomy in pediatric cochlear implant users.

Scientific reports
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Complete congenital agenesis of major salivary glands: case report and systematic review of the literature.

Journal of stomatology, oral and maxillofacial surgery
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A brief history of otologic surgery: restoring hearing through the ages.

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
2026

Hyperspectral Imaging for the Classification and Analysis of Drusen in Age-Related Macular Degeneration.

Investigative ophthalmology & visual science
2026

Alport syndrome complicated with IgA nephropathy: a case report.

Frontiers in medicine
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Defining Prominauris in the Pediatric Population: A Systematic Review.

The Journal of craniofacial surgery
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Renal Ultrasound in Patients With Preauricular Skin Tags: Is It Necessary and Who Needs It?

Plastic surgery (Oakville, Ont.)
2026

Age-related patterns and strong correlation between cranial and ear asymmetry in healthy children: a CT-based cross-sectional study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.

Science progress
2026

Histopathology of Inner Ear Malformations: Potential Prognostic Factors and Their Influence in the Decision-Making Between CI and ABI.

Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale
2026

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic CHD7 variant.

JCEM case reports
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Oculo-auricular syndrome caused by a novel HMX1 frameshift variant: a case report.

Ophthalmic genetics
2026

Proportion of middle ear surgeries feasible via transcanal endoscopic ear surgery: A multicenter study in Japan.

Auris, nasus, larynx
2026

Clinical Characteristics, Surgical Outcomes, and Recurrence Factors of Cerebrospinal Fluid Otorrhea Associated With Inner Ear Malformations: A Retrospective Cohort Study.

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

Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.

JCI insight
2026

Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.

Clinical medicine insights. Pediatrics
2026

Binaural diplacusis in individuals with suspected endolymphatic hydrops.

Hearing research
2026

Audio-vestibular abnormalities in patients with rosacea: a prospective case-control study.

Cutaneous and ocular toxicology
2026

Factors Predicting Subsequent Changes in Hearing Thresholds in Neonates with Initial Hearing Impairment.

Ear, nose, & throat journal
2026

Major Tragal Malformations: Structural Feature, Classification, and Reconstruction.

The Journal of craniofacial surgery
2026

Vestibular dysfunction in children undergoing cochlear implantation: Prevalence and postoperative changes.

International journal of pediatric otorhinolaryngology
2026

Benefits of Bilateral Bone Conduction Device Use Including Osia Devices in Children and Adolescents With Bilateral Atresia.

Trends in hearing
2026

ABR findings in inner ear anomaly subgroups: Influence of cochlear nerve deficiency.

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
2026

Himalayan sub-Moho earthquakes suggest crustal faults trigger eclogitized-drip tectonics.

Scientific reports
2026

Pressure-induced ossicular alterations in the oim mouse model of brittle bone disease do not cause hearing loss.

Hearing research
2026

Hamartoma of the Nasal Vestibule: Case Report and Review of Literature.

Ear, nose, & throat journal
2026

Conditional Deletion of Isl1 Disrupts Cochlear Sensory and Neuronal Development, Leading to Hearing Loss.

Molecular neurobiology
2026

[Study on the characteristics of magnetic resonance hydrography of the inner ear in patients with total deafness-type sudden sensorineural hearing loss].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
2026

Incidence of Trans-Impedance Matrix Pattern Variants in Patients With Normal Anatomy Receiving Cochlear Implantation.

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

Structure-function Association Between Contrast Sensitivity Function and Optical Coherence Tomography Features in Patients with Idiopathic Epiretinal Membrane.

Retina (Philadelphia, Pa.)
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Digital twin brain reveals state-specific stimulation targets for abnormal brain dynamics in tinnitus.

BMC medicine
2026

Evaluation of Techniques and Outcomes in Pediatric Partial Ear Reconstruction: A 15-Year Experience.

Annals of plastic surgery
2026

First branchial cleft cysts in a UK paediatric tertiary centre: A 10-year single-centre case series.

Pediatric surgery international
2026

Unilateral accessory tragi in a cat.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2026

Endoscopic Radiofrequency Cauterization of Congenital Pyriform Fossa Malformations: Long-Term Outcomes.

Ear, nose, & throat journal
2026

Genetic diagnosis of macrotia in PIK3CA-Related Overgrowth Spectrum (PROS) and long-term outcome of otoplasty: a case report and literature review.

Brazilian journal of otorhinolaryngology
2026

Current Evidence of the Effect of Breastfeeding on Ear Molding Outcomes: A Scoping Review.

The Laryngoscope
2026

Safety and efficacy of connecting the residual ear to the cartilage scaffold in the first-stage versus second-stage surgery: a protocol of a randomised controlled trial in non-expanded auricular reconstruction for concha-type microtia.

BMJ open
2026

The Risk of Becoming a Cochlear Implant Non-user or Minimal-user in a Patient Cohort From Denmark 2010-2022.

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

Migraine-induced cochlear injury triggers ZBP1-mediated PANoptosis via CGRP signaling.

The journal of headache and pain
2026

Vestibular function analysis in patients with unilateral Ménière's disease.

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
2026

Standardizing Measurement of Complete Retinal Pigment Epithelial and Outer Retinal Atrophy-Classification of Atrophy Meeting Report 8.

Ophthalmology. Retina
2026

Analysis of Risk Factors for Olfactory Dysfunction in CRSsNP Patients: A Prospective Case-Control Study.

Ear, nose, & throat journal
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
2026

[Clinical efficacy of two-stage ear reconstruction using autologous rib cartilage in the correction of congenital microtia].

Zhonghua shao shang yu chuang mian xiu fu za zhi
2026

[Refined surgical protocol and clinical efficacy of total expansion auricular reconstruction surgery].

Zhonghua shao shang yu chuang mian xiu fu za zhi
2026

Costal cartilage tissue regeneration after the modified first-stage autologous ear reconstruction for microtia: A retrospective study.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS
2026

Histopathology of Inner Ear Malformations: Important Considerations for Cochlear Implant Surgery.

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

[The study on the clinical application of computer-assisted subjective visual vertical/horizontal line tests at different head deflection angles in the diagnosis of vestibular neuritis].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
2026

[Study of effect of caloric test in different perfusion directions on caloric test results].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2026

[Linguistic skills and its influencing factors of cochlear implanted children with cochlear nerve aplasia diagnosed by MRI].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2025

Parental knowledge and barriers to cleft lip and palate care: a cross-cultural study from the Middle East and South Asia.

Frontiers in public health
2026

Molecular Characterization of Vascular Anomalies Tissues Guides Clinical Diagnosis.

Lymphatic research and biology
2026

Venous outflow and quality of life improvement after styloidectomy and jugular venous decompression.

Neurosurgical focus
2026

Primary ciliary dyskinesia: a national expert consensus statement on standards of care.

ERJ open research
2025

Local and systemic safety of deproteinized calf blood extract injection: hypersensitivity, hemolysis, local tolerance, and acute intravenous toxicity in rodents and rabbits.

Frontiers in pharmacology
2026

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

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

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Human molecular genetics
2025

Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation.

Frontiers in genetics
2026

Cystoid Macular Edema as Manifestation of Smoldering Multiple Myeloma: A Case Report.

Journal of vitreoretinal diseases
2026

Diffuse lipomatosis of the thyroid and thyroid papillary carcinoma, lipomatous type: A case report.

Indian journal of pathology & microbiology
2026

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

American journal of human genetics
2026

Cholesteatoma in concha-type microtia.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS
2026

A single-center, randomized, double-blinded, placebo-controlled clinical study on the efficacy and safety of voriconazole ear drops in the treatment of otomycosis.

American journal of otolaryngology
2026

Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.

Case reports in ophthalmology
2025

A Case Report of Mega Cisterna Magna with Extra-cranial Features of Dandy-Walker Malformation in an Adult: Implications for the Dandy-Walker Complex Continuum.

Acta medica Philippina
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Best Practices for Steroid Implant Administration in the Feedlot.

The Veterinary clinics of North America. Food animal practice
2026

Acellular dermal matrix insertion versus fascia-anchoring suture after preauricular fistulectomy.

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
2026

Acoustically Evoked Short Latency Negative Response and Vestibule Function in Patients With Enlarged Vestibular Aqueduct.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2026

Auricular seroma managed with aspiration, intralesional triamcinolone, and compression using silicone sheet/button: How we do it.

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
2026

Evaluation of ear structures on fetal MRI: A comparative analysis at 1.5-T and 3-T.

Auris, nasus, larynx
2025

Delayed Facial Nerve Palsy Developing After Surgery for a Benign Parotid Gland Tumor.

Cureus
2026

Outcomes and Considerations of Cochlear Implantation in Patients With Incomplete Partition Type-III Malformation: A Scoping Review.

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

Pseudomembranes and Tissue Plugs in the Round Window Niche: Implications for Inner Ear Drug Delivery.

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

Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association).

BMJ case reports
2026

Severe cryptotia correction using an adjustable postauricular Z-skin flap combined with autologous conchal cartilage grafting: A retrospective study.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS
2026

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

CEN case reports
2026

Vitreoretinal Abnormalities in Poretti-Boltshauser Syndrome: An Imaging Overview.

Ophthalmology. Retina
2025

COVID-19-Associated Severe Aplastic Anemia in an 18-Month-Old Child: A Case Report.

Cureus
2025

Integrating Cranio-Cervical Neuromyofascial Continuity With Body-Wide Function in Kimmerle Anomaly: An Osteopathic Case Report.

Cureus
2026

An EABR paradigm for assessing inner ear malformations in cochlear implantation.

Acta oto-laryngologica
2026

Corneal transplantation triple procedures.

Survey of ophthalmology
2026

Cochlear implantation in patients with CHARGE syndrome: a 10-year institutional experience and literature review.

The Journal of laryngology and otology
2026

Newborn hearing screening to diagnosis: A clinical study of 15,818 cases.

International journal of pediatric otorhinolaryngology
2026

Randomized clinical trial of post-operative outcomes following posterior versus anterior tympanostomy tube placement: preliminary results at 2-12 week follow-up.

International journal of pediatric otorhinolaryngology
2025

Intraoperative Management of Lateral Semicircular Canal Fistula in Cholesteatoma Surgery: Retrospective Case Series and Audiovestibular Follow-Up.

Medicina (Kaunas, Lithuania)
2025

Young man with progressive hearing loss and ocular motor abnormalities.

Practical neurology
2025

Evaluating Diabetic Retinopathy Using Ultra-widefield Swept-Source Optical Coherence Tomography Angiography.

Journal of vitreoretinal diseases
2025

Association of mastoid pneumatization with chronic otitis media: A comparative study.

Pakistan journal of medical sciences
2025

Burden of congenital anomalies in Faisalabad, Pakistan: Consanguinity, ethnic disparities and public health implications.

Pakistan journal of medical sciences
2025

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

Otology & neurotology open
2025

Transcatheter Embolization of a Rare Pulmonary Arterio-Arterial Malformation in a Nine-Year-Old Boy.

Cureus
2025

Prevalence of Asymptomatic Superior Semicircular Canal Dehiscence on High Resolution CT scan in Omani Population.

Sultan Qaboos University medical journal
2026

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Genetics in medicine : official journal of the American College of Medical Genetics
2025

Occult spinal CSF leak: to patch or not to patch-a case-based update.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Effect of bisphosphonate treatment on the oim mouse middle ear ossicles' structure, composition and hearing.

Bone
2026

Progress in Auricular Reconstruction Techniques: A Review.

Annals of plastic surgery
2025

Optimal MRI protocol for acute unilateral vestibulopathy: 3D-fsFLAIR vs 3D-fsT1WI at multiple post-contrast time points.

European radiology
2025

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

Molecular syndromology
2025

A multimodal data-based diagnostic model for predicting vestibular migraine: a retrospective study.

Frontiers in neurology
2025

CLINICOEPIDEMIOLOGICAL FINDINGS AMONG CHILDREN AND ADOLESCENT PRESENTING WITH SUSPECTED ANKYLOGLOSSIA IN OTORHINOLARYNGOLOGY PRACTICE AT A TERTIARY INSTITUTION.

Annals of Ibadan postgraduate medicine
2025

LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction.

Animal genetics
2025

Autoimmune Adrenalitis in Systemic Lupus Erythematosus: Identifying a Rare Endocrine Complication.

Cureus
2026

Gynecologic Manifestations of Hereditary Syndromes: Clinical and Imaging Spectrum.

Radiographics : a review publication of the Radiological Society of North America, Inc
2026

Comparative Analysis of Speech Outcomes in South Korean Preschoolers With Unilateral Congenital Aural Atresia Against a Norm-referenced Standard.

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

An Effective Surgical Method for Correcting Different Degrees of Constricted Ears.

Aesthetic plastic surgery
2025

Ossiculoplasty for Congenital Middle Ear Malformations.

Otolaryngologic clinics of North America
2025

Effectiveness and Safety of Non-Surgical Otoplasty Using APTOS Threads: A Retrospective Study.

Journal of cosmetic dermatology
2025

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

The Laryngoscope
2026

Recurrent otomycosis in patients with undiagnosed diabetes mellitus: a clinical analysis.

The Journal of laryngology and otology
2026

A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification.

Molecular genetics and metabolism
2025

Invisible water in subducted crust: Lawsonite velocity anomalies under mantle conditions.

Proceedings of the National Academy of Sciences of the United States of America
2026

Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T).

Stem cell research
2026

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.

JIMD reports
2025

[The clinical and imaging presentations of the pontine tegmental cap dysplasia].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2025

Detection of ossicular chain pathologies using sweep frequency impedance with short-time stimulation and adaptive noise reduction.

The Journal of the Acoustical Society of America
2025

Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.

AJNR. American journal of neuroradiology
2026

Ear Remnant Incision Expander Method for Conchal-Type Microtia: A 10-Year Study.

Annals of plastic surgery
2026

A modified two-stage ear reconstruction with integrated correction: Reduced cartilage harvest and operative time for bilateral microtia.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS
2025

Prenatal Ethion Exposure Disrupts Reproductive Health in First-Generation Rats.

Environmental toxicology
2025

Dynamic Changes in Free Triiodothyronine (FT3) and Their Correlation with Hearing Recovery in Sudden Sensorineural Hearing Loss: Clinical Implications.

Journal of otology
2026

A case-control study on preauricular congenital fistula surgery outcomes by Propensity Score Matching (PSM) analysis.

Brazilian journal of otorhinolaryngology
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

Heat-inactivated Akkermansia muciniphila AKK-PROBIO ameliorates cyclophosphamide-induced immunosuppression via the NF-κB/MAPK pathway and gut microbiota modulation.

Anaerobe
2025

Phenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).

Ophthalmic genetics
2025

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
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

Clear Cell Papulosis Associated With Multiple Developmental Abnormalities of the Skin.

Cureus
2025

An Insight into Role of Auditory Brainstem in Tinnitus: A Systematic Review of Diagnostic Assessments.

Audiology research
2025

Utility and outcome of piezoelectric bone conduction implant in managing mixed hearing loss with incomplete partition type 2 and enlarged vestibular aqueduct.

SAGE open medical case reports
2025

Minor physical anomalies and social cognition in patients with schizophrenia and their first degree relatives.

Frontiers in psychiatry
2026

Correlations between click-ABR / PTA outcomes and temporal bone malformation characteristics in patients with congenital aural atresia.

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

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Scientific reports
2025

Microscopic Characterization of Otolith Abnormalities in Garfish Belone belone (Actinopterygii: Belonidae) from the Black Sea Using Light and SEM Microscopy.

Microscopy and microanalysis : the official journal of Microscopy Society of America, Microbeam Analysis Society, Microscopical Society of Canada
2026

Rabbit conformational predispositions to ear abnormalities: Field study of a pedigree population.

Veterinary journal (London, England : 1997)
2026

Cochlear implantation in children with congenital inner ear anomalies: challenges and outcomes.

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

A case report of tracheal duplication cyst with steatocystomatous histology: a rare embryological overlap.

BMC surgery
2026

Real-world pharmacovigilance and clinical risks of fluvoxamine: A disproportionality analysis based on FAERS data.

Journal of affective disorders
2025

A Morphometric Analysis of the Ear, Nose, and 2D:4D Digit Ratio in Individuals With Down Syndrome.

The Journal of craniofacial surgery
2025

Prevalence of Electrolyte Imbalances in Critically Ill Medical Intensive Care Unit Patients and Their Association With Clinical Outcomes.

Cureus
2026

Endoscopic Management of Congenital Middle Ear Ossicular Chain Anomalies: A Multicenter Study.

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

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

BMC pediatrics
2025

Cochlear implantation for inner ear malformations with facial nerve aberrations: A retrospective evaluation of eleven cases.

Cochlear implants international
2025

Low-Set Ears: A New Marker of Fetal Chromosomal Anomalies.

Fetal diagnosis and therapy
2025

CHD7 regulates cardiac neural crest cell differentiation through SOX5-mediated self-activation.

iScience
2025

Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.

Frontiers in pediatrics
2026

Co-occurrence of cerebral arteriovenous malformation and jugular bulb dehiscence as the etiology of pulsatile tinnitus: A case report.

Radiology case reports
2025

CHARGE Syndrome and Scoliosis: A Multicenter Study Highlighting Elevated Surgical Complications.

Journal of pediatric orthopedics
2025

A Unique Case of Beard-Distributed Infantile Hemangioma With Subglottic Extension and Evaluation for PHACE Syndrome.

Ear, nose, & throat journal
2025

ACR Appropriateness Criteria® Horner Syndrome.

Journal of the American College of Radiology : JACR
2026

In vivo anti-inflammatory, analgesic activities and phytochemical profile of Hu Lisan ethanol extract.

Journal of ethnopharmacology
2025

[Efficacy of malleostapedotomy for congenital ossicular malformation and influencing factors of postoperative hearing outcomes].

Zhonghua yi xue za zhi
2026

Clinical Characteristics of a Rare Type I Congenital First Branchial Cleft Anomaly With Native Sinus Tract.

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

Multidisciplinary management of nasal and lacrimal drainage disorders in ectrodactyly-ectodermal dysplasia-clefting syndrome.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2025

Safety of Adenotonsillectomy in Children with Genetic Syndromes.

Ear, nose, & throat journal
2025

[Clinical characteristics of congenital atresia of the oval window].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2025

Newborn Auditory Brainstem Response and Sudden Infant Death Syndrome.

Journal of neuroscience research
2025

Aberrant Right Subclavian Artery With a Bicarotid Trunk: A Rare Cause of Stridor in Infants.

Clinical case reports
2025

Audiovestibular Dysfunction in Hyper-IgE Syndrome: A Systematic Review of Characteristics, Pathophysiology, Diagnosis, and Management.

International journal of molecular sciences
2025

Superior semicircular canal abnormalities are more common in patients presenting to the emergency room with unexplained vertigo.

Clinical imaging
2025

Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.

Human genetics
2025

[Clinical manifestations and audio-vestibular functional evaluation in patients with lateral semicircular canal malformations].

Zhonghua yi xue za zhi
2026

Hearing Trajectories in Congenital Cytomegalovirus Infection: A 4-Year Follow-Up Study.

The Journal of pediatrics
2026

Empty oval window associated with ossicular malformation: Our experience and a review of the literature.

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
2026

Lateral mandibular ridge: A unique feature of the auriculocondylar syndrome.

European journal of radiology
2026

The Presentation Patterns of Tessier 7 Clefts.

The Journal of craniofacial surgery
2026

Visual modulation of vestibular-evoked balance response disturbed by posterior cortical atrophy.

The Journal of physiology
2026

Peripapillary Retinoschisis: The Expanded Spectrum and New Insights From Multimodal Imaging.

American journal of ophthalmology
2025

Hearing loss and pathological changes in a mouse model harboring Gjb2 p.D50N variant.

Neuroscience
2025

Non-Neoplastic Disorders Mimicking Posterior Segment Inflammation.

Ocular immunology and inflammation
2025

Prenatal Diagnosis and Prenatal Counseling of Patients with Orofacial Clefts.

Facial plastic surgery clinics of North America
2025

Predicting mid-term hearing and developmental outcome in clinically inapparent congenital cytomegalovirus infection with hearing loss at birth.

Early human development
2025

Nr4a1 Deficiency Potentially Promotes Hearing Loss Through Inner Ear Immunity in C57BL/6N Mice.

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

Evaluation of anterior olfactory nucleus changes on magnetic resonance imaging: could it be a game changer in smell disorders?

The Journal of laryngology and otology
2025

Vestibular Function and Complaints in Patients With Untreated Unilateral Vestibular Schwannoma.

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

Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms.

Orphanet journal of rare diseases
2025

The Petrosquamosal Sinus: A Venous Anomaly of Surgical Importance in Mastoidectomy.

Ear, nose, & throat journal
2026

Cochlear clefts in children: prevalence, characteristics, and clinical implications.

Pediatric radiology
2025

Auditory Outcomes in Patients Undergoing Orthognathic Surgery: An Analysis of Middle Ear Disease.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2025

North American "warming holes" and European heat during abrupt Holocene cooling events in the Atlantic.

Nature communications
2026

Analysis of Craniofacial Microsomia and Facial Asymmetry: Approaches in Facial Feminization Surgery.

Aesthetic surgery journal
2025

[Clinical phenotype and genetic analysis of a fetus with a novel mutation of OTX2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Reevaluation of Enlarged Vestibular Aqueduct.

JAMA otolaryngology-- head & neck surgery

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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. Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.
    Ophthalmology science· 2026· PMID 41869414mais citado
  2. Congenital anomalies prevalent in rural population of Dera Ismail Khan, Pakistan: Ethnic inequalities and biodemographic attributes.
    Pakistan journal of medical sciences· 2026· PMID 41836811mais citado
  3. Hyperspectral Imaging for the Classification and Analysis of Drusen in Age-Related Macular Degeneration.
    Investigative ophthalmology & visual science· 2026· PMID 41784336mais citado
  4. Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.
    Science progress· 2026· PMID 41747233mais citado
  5. Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.
    Clinical medicine insights. Pediatrics· 2026· PMID 41727672mais citado
  6. Testing a Cochlear Implant Electrode Insertion Training System for Optimal Electrode Array Placement in Different Inner Ear Anatomies.
    J Vis Exp· 2026· PMID 41871071recente
  7. Speakers as sensors: Machine learning-based earphone impedance analysis for ear canal insertion depth prediction.
    J Acoust Soc Am· 2026· PMID 41870478recente
  8. Activity and retinoic acid drive hair cell spatial patterning in the zebrafish utricle.
    Development· 2026· PMID 41867051recente
  9. Microbiota in Chronic Suppurative Otitis media: association with Postoperative Tympanic membrane outcomes.
    Appl Microbiol Biotechnol· 2026· PMID 41860619recente
  10. Reconstruction of Concha-Type Microtia Using a Crescent Costal Framework and Residual Auricular Cartilage.
    J Otolaryngol Head Neck Surg· 2026· PMID 41854519recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1092(Orphanet)
  2. OMIM OMIM:267400(OMIM)
  3. MONDO:0009969(MONDO)
  4. GARD:4664(GARD (NIH))
  5. Q55782263(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.

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Anomalias renais, genitais e do ouvido médio
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Anomalias renais, genitais e do ouvido médio

ORPHA:1092 · MONDO:0009969
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C1849432
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