Malformação congênita da orelha externa, observada com mais frequência em homens, que ocorre esporadicamente ou é hereditária, caracterizada por aurículas unilaterais (79-93% dos casos, 60% dos quais envolvem a orelha direita) ou bilaterais, pequenas e de formato anormal e que estão frequentemente associadas a atresia ou estenose do canal auditivo, distúrbios de déficit de atenção e atraso no desenvolvimento da linguagem. A variação no tamanho da orelha varia do grau I, onde a orelha é simplesmente menor que o normal, até o grau IV, também conhecido como anotia, onde há ausência completa da orelha externa e do conduto auditivo.
Introdução
O que você precisa saber de cara
Malformação congênita da orelha externa, observada com mais frequência em homens, que ocorre esporadicamente ou é hereditária, caracterizada por aurículas unilaterais (79-93% dos casos, 60% dos quais envolvem a orelha direita) ou bilaterais, pequenas e de formato anormal e que estão frequentemente associadas a atresia ou estenose do canal auditivo, distúrbios de déficit de atenção e atraso no desenvolvimento da linguagem. A variação no tamanho da orelha varia do grau I, onde a orelha é simplesmente menor que o normal, até o grau IV, também conhecido como anotia, onde há ausência completa da orelha externa e do conduto auditivo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
Nucleus
Microtia, hearing impairment, and cleft palate
A disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion.
Variantes genéticas (ClinVar)
40 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 81 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Microtia
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
33 ensaios clínicos encontrados, 8 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.175
Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.
Este estudo genético, realizado na população finlandesa, identificou uma variação genética significativa próxima ao gene ROBO1 como fortemente associada à microssomia craniofacial (CFM), condição que inclui desde a microtia (malformação da orelha) até síndromes mais complexas. Para pacientes e médicos, essa descoberta é crucial, pois avança a compreensão das causas genéticas dessas condições, indicando que alterações nesta região genética podem impactar o desenvolvimento precoce da face e do sistema auditivo. Isso reforça a base genética comum entre as malformações faciais e os problemas auditivos, podendo auxiliar no aconselhamento genético e no manejo clínico.
🇧🇷 traduzidoVibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.
Este artigo apresenta uma abordagem cirúrgica inovadora para microtia com atresia, que combina a reconstrução auricular com polietileno poroso (Medpor) e a implantação do Vibrant Soundbridge para reabilitação auditiva em **um único procedimento**. Para pacientes e médicos, isso representa uma grande vantagem ao evitar múltiplas cirurgias, oferecendo excelentes resultados cosméticos e uma melhora significativa da audição, conforme demonstrado com sucesso em um caso de adolescente. Este método promete ser uma solução mais eficiente e menos onerosa para a condição.
🇧🇷 traduzidoA Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.
Este estudo revela que mutações em proteínas como a MCM3, associadas à síndrome de Meier-Gorlin (uma condição genética que pode causar Microtia), prejudicam o início da replicação do DNA nas células. A pesquisa identificou um "mecanismo de trava" essencial na proteína MCM3 que, quando defeituoso devido a essas mutações, impede que o maquinário de cópia do DNA funcione corretamente. Entender esse defeito molecular fundamental aprofunda o conhecimento sobre a doença e abre caminhos para identificar potenciais alvos para futuras abordagens terapêuticas.
🇧🇷 traduzidoSafety 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.
Este estudo aborda a reconstrução auricular para microtia tipo concha, questionando se a conexão da orelha residual ao arcabouço de cartilagem de costela deve ser feita na primeira ou segunda etapa da cirurgia de dois estágios. Um ensaio clínico randomizado com 78 pacientes será realizado para comparar essas abordagens, hipotetizando que a conexão na segunda etapa pode reduzir riscos operatórios e melhorar a recuperação. O objetivo é determinar a estratégia mais segura e eficaz para pacientes e cirurgiões, avaliando a cicatrização, complicações, qualidade da cicatriz e o benefício geral ao paciente.
🇧🇷 traduzidoHearing rehabilitation in patients with Treacher Collins syndrome.
Para pacientes com Síndrome de Treacher Collins, que frequentemente apresentam perda auditiva condutiva bilateral e anomalias craniofaciais, este estudo conclui que os aparelhos auditivos de condução óssea (BCHA) são a intervenção auditiva preferencial. Eles proporcionam melhorias significativas na audição e no reconhecimento da fala; contudo, para médicos, é crucial considerar as complexas variações anatômicas e o sucesso limitado de cirurgias reconstrutivas (canalplastia e timpanoplastia) na melhora auditiva em casos de estenose com colesteatoma.
🇧🇷 traduzidoPublicações recentes
Quantifying 3D Shape in Microtia Reconstruction Using 3D Surface Scanning: A Pilot Phantom-and-Case Study.
CRABP2 upregulation in perichondral stem cells is associated with microtia.
Reconstruction of microtia with crus helicis transversal deformity using flap technique combined with ear cartilage transplantation: a retrospective study.
Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.
🥉 Relato de casoHearing rehabilitation in patients with Treacher Collins syndrome.
📚 EuropePMC1.085 artigos no totalmostrando 196
Quantifying 3D Shape in Microtia Reconstruction Using 3D Surface Scanning: A Pilot Phantom-and-Case Study.
Facial plastic surgery & aesthetic medicineCRABP2 upregulation in perichondral stem cells is associated with microtia.
BMC medical genomicsReconstruction of microtia with crus helicis transversal deformity using flap technique combined with ear cartilage transplantation: a retrospective study.
Maxillofacial plastic and reconstructive surgeryGenetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.
Human molecular geneticsHearing rehabilitation in patients with Treacher Collins syndrome.
Acta oto-laryngologicaEliminating Post-Operative Pain with Intercostal Nerve Cryoablation during Rib Cartilage Harvest for Total Microtia Construction.
Plastic and reconstructive surgery[Genetic analysis of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsAdvances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies.
Frontiers in medicinePrenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.
Prenatal diagnosisThe Influence Pathway of the Burden on Caregivers of Children With Congenital Ear Malformations: An Analysis of the Mediating Effects of Social Support and Coping Mechanisms.
The Journal of craniofacial surgeryUsage patterns in children receiving an active osseointegrated bone conduction implant.
International journal of pediatric otorhinolaryngologyReconstruction of Concha-Type Microtia Using a Crescent Costal Framework and Residual Auricular Cartilage.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-facialeAllogeneic Microtia Reconstruction as a Step in the Auricular Reconstructive Ladder: Personal Technique Using Interlocking Subunit Templates.
The Journal of craniofacial surgeryMicrotia is a 'part of me': a qualitative investigation into the family and child's experience of microtia and hearing loss.
International journal of audiologyBilateral Congenital Stapes Footplate Fixation With Absence of the Stapedial Tendon.
The Permanente journalVibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.
Science progressDevelopment of decellularized mouse auricular scaffolds using sodium dodecyl sulfate immersion-agitation for microtia tissue engineering.
Narra JA Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.
Proceedings of the National Academy of Sciences of the United States of AmericaClinical Salvage Approaches for Surgical Site Infection After Autologous Microtia Reconstruction.
Journal of clinical medicineOptimizing Neonatal Ear Molding: Are Commercial Systems Superior to Classic Methods?
The LaryngoscopeAnalysis of Eya1 and Tbx1 mutants highlights interactions between the muscle and developing cartilage during external ear formation.
Development (Cambridge, England)Current Evidence of the Effect of Breastfeeding on Ear Molding Outcomes: A Scoping Review.
The LaryngoscopeSafety 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 open3D bioprinted composite scaffold incorporating microfluidics-derived chondrocyte microspheroids promotes auricular cartilage regeneration.
Materials today. Bio[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMolecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.
Human genomicsOutcomes of Osia 2 Implantation With and Without Concurrent Microtia Reconstruction.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryMeier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.
Journal of pediatric endocrinology & metabolism : JPEM[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[Refined surgical protocol and clinical efficacy of total expansion auricular reconstruction surgery].
Zhonghua shao shang yu chuang mian xiu fu za zhiCostal cartilage tissue regeneration after the modified first-stage autologous ear reconstruction for microtia: A retrospective study.
Journal of plastic, reconstructive & aesthetic surgery : JPRASA Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation.
Molecular syndromologyCraniofacial Prosthetic Reconstruction: A 25-Year Anaplastology Experience.
The Journal of craniofacial surgeryCholesteatoma in concha-type microtia.
Journal of plastic, reconstructive & aesthetic surgery : JPRASPatient Specific 3D-printed Surgical Guides for Autologous Auricular Reconstruction: The "Robert-Houdin Auricle Box" Concept.
The Journal of craniofacial surgeryHow Important is the Tragus in Ear Reconstruction? An Eye-Tracking Study.
Facial plastic surgery & aesthetic medicineMolecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.
The Journal of biological chemistryConcurrent One-Stage Polyethylene Ear Reconstruction and Bone Conduction Hearing Device Placement: A Novel Technique and Case Series.
Plastic and reconstructive surgeryPostoperative Cutaneous Sensory Recovery After Different Surgical Approaches for Microtia and Ear Reconstruction.
Plastic and reconstructive surgery. Global openInnovative tissue engineering strategies for auricular regeneration in microtia: Current advances and future perspectives.
Regenerative therapyPatient and guardian perspectives on tissue engineering in microtia reconstruction.
PloS oneProgress in Auricular Reconstruction Techniques: A Review.
Annals of plastic surgeryA New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.
Molecular syndromologyMultidisciplinary care improves hearing intervention rates in children with microtia.
International journal of pediatric otorhinolaryngologyDo Long-term Thoracic Adaptations Occur in Pediatric Microtia Patients After Costal Cartilage Harvesting?
Plastic and reconstructive surgeryEar Remnant Incision Expander Method for Conchal-Type Microtia: A 10-Year Study.
Annals of plastic surgeryA modified two-stage ear reconstruction with integrated correction: Reduced cartilage harvest and operative time for bilateral microtia.
Journal of plastic, reconstructive & aesthetic surgery : JPRASNovel 3D-printed aids for total ear reconstruction.
3D printing in medicineAnxiety, depression, and HRQoL in pediatric microtia patients following ear reconstruction: a cross-sectional study.
Frontiers in psychiatryTemporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.
European journal of radiologyAssociation between maternal occupation as a cleaner/maid/janitor during early pregnancy and selected birth defects in the National Birth Defects Prevention Study.
Occupational and environmental medicineVascular Anatomy of the Temporoparietal Fascia in Microtia: A Computed Tomographic Angiographic Analysis of 172 Patients.
Plastic and reconstructive surgeryClinical Application of Auricular Cartilage Expansion Technique for Conchal-Type Microtia Repair in the Xizang Autonomous Region.
The Journal of craniofacial surgeryUtility of Large Language Models for Congenital Microtia Reconstruction Education: Comparison of the Performance of Claude, GPT, and Gemini.
Aesthetic plastic surgery"Association Between Ear Position in Microtia and Middle Ear Development in 3D CT Imaging.".
Plastic and reconstructive surgery"Hybrid Auricular Framework of Autologous Rib and Ear Cartilage for Microtia Reconstruction via a Preauricular Incision".
Plastic and reconstructive surgeryA Critical Assessment of the Readability and Ethnic Inclusivity of Online Patient Materials for Microtia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSkin incision strategy in porous polyethylene-based microtia reconstruction: A novel subtype-specific algorithm.
Journal of plastic, reconstructive & aesthetic surgery : JPRASThe use of the acellular dermal matrix in microtia reconstruction to decrease donor site morbidity after temporo-parietal fascia harvest.
Journal of pediatric surgeryAnesthetic management in a child with Meier-Gorlin syndrome: a case report.
BMC anesthesiologyNon-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.
Human geneticsAugmented Reality and 3D Printing as an Aid to Surgical Planning in Modern Microtia Reconstruction.
The Journal of craniofacial surgeryThe Differentially Expressed Genes That Are Associated With Autophagy in Microtia.
The Journal of craniofacial surgeryOptimizing Microtia Results in Alloplastic Ear Reconstruction.
The LaryngoscopeCase report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.
Journal of otologyAudiologic and reconstructive microtia management: Comparison of otolaryngology and plastic surgery.
International journal of pediatric otorhinolaryngologyA Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda.
Molecular syndromologyThe Great Escape: A Case Series on DDX3X Craniofacial Phenotypes in Females.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Predictive Model for Size-Specific Temporoparietal Fascia Flap Planning in Porous Polyethylene-Based Auricular Reconstruction.
The Journal of craniofacial surgeryEvaluating the Reliability and Readability of AI Chatbot Responses for Microtia Patient Education.
The Journal of craniofacial surgeryCase Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome.
Frontiers in pediatricsSubcutaneous pedicle island flap for complex congenital earlobe cleft correction.
International journal of oral and maxillofacial surgeryTwo-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.
Frontiers in medicineInnovative Approaches in Microtia Treatment: Advancements in Tissue Engineering and Scaffold Design.
Annals of biomedical engineeringAdvanced Care for Management of Microtia Using a Two-Stage Autologous Costal Cartilage Technique for Auricular Reconstruction: Surgical Method, Outcomes, and Future Directions.
The Journal of craniofacial surgeryEndoscopic-Assisted Harvest of Temporoparietal Fascia Flap Through a Single Incision for Single-Stage Auricular Reconstruction With Porous Polyethylene Framework: How I Do It.
The Journal of craniofacial surgeryOur Evolved Technique for Microtia Reconstruction: An Advanced Form of the Yotsuyanagi Method.
The Journal of craniofacial surgeryUnexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.
GeneticsAnalytical Study of Microtia Risk Factors in Indonesia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMicrotia Construction: Secondary Cases.
The Journal of craniofacial surgeryMicrotia Reconstruction With Costal Cartilage: How I do it?
The Journal of craniofacial surgeryEfficacy Analysis of Ear Molding Correction for Congenital Auricular Deformities at Different Ages.
Aesthetic plastic surgeryMicrotia Ear Reconstruction: Low Hairline Cases.
The Journal of craniofacial surgeryPersonal Experience in Microtia Reconstruction.
The Journal of craniofacial surgeryMicrotia Reconstruction: Virgin Cases-Technical Details.
The Journal of craniofacial surgeryUse of Allogeneic Rib Cartilage for Microtia Repair: Preliminary Data on a Single Institutional Experience.
The Journal of craniofacial surgeryMicrotia Construction: Creating an External Organ.
The Journal of craniofacial surgery[Study on the diagnostic value of fetal magnetic resonance imaging of external ear abnormalities].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryUsing Preauricular Rotation Flaps to Repair Cartilage Exposure in the Triangular Fossa Area After Ear Reconstruction: Clinical Techniques and Evaluation.
Annals of plastic surgeryFabrication and characterization of PVA/Collagen/Gelatin scaffold for microtia reconstruction.
Journal of biomaterials applications[Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryTwo-Staged Microtia Reconstruction With Autologous Rib Cartilage: A 25-Year Experience.
The Journal of craniofacial surgeryImpact of Early Intervention on Children with Congenital Conductive Hearing Loss: Role of Active Transcutaneous Bone Conduction Implants.
Audiology & neuro-otologyIL-6 signaling is required for the development and regeneration of ear cartilage in microtia.
Frontiers in cell and developmental biologyRisk Factors in the Formation of Congenital Malformations of the Ear: Microtia and Atresia of the External Auditory Canal.
Journal of clinical medicine researchA Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.
Biochemical geneticsImplantable bone conduction devices enhance functional ear reconstruction in patients with pediatric microtia.
Frontiers in pediatricsA novel incision design for Vibrant SoundBridge®︎ implantation prior to auricular reconstruction for microtia.
PloS oneA Rare Case of Microtia with Joint Formation Between Zygomatic Part of Temporal Bone and Mandibular Condyle.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaRelationship between ear appearance and psychological function among congenital unilateral microtia after autologous cartilage ear reconstruction: a chain mediation model.
BMC psychologyCostal cartilage graft harvesting for auricular reconstruction: donor-site morbidity assessment.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryTotal Ear Reconstruction with Costal Cartilage in Challenging Cases: Silicone-Induced Vascularized Capsule Technique.
Plastic and reconstructive surgerySingle-Stage Microtia Reconstruction: Avoiding Implant Exposure Via Intraoperative Angiography, A Cutting-Edge Reconstructive Technique.
The Journal of craniofacial surgeryA novel EFTUD2 splicing variant causing mandibulofacial dysostosis with microcephaly: a case report.
Translational pediatricsComprehensive smartphone-based 3D scanning framework for capturing the external ear.
Journal of plastic, reconstructive & aesthetic surgery : JPRASA Modified Method for Ear Projection in Auricular Reconstruction: Split-Thickness Skin Graft Combined with Retroauricular Fascia Flap.
Plastic and reconstructive surgeryAlexandrite laser hair removal for pediatric microtia patients undergoing autologous rib cartilage auricular reconstruction: A retrospective analysis.
International journal of pediatric otorhinolaryngologyPediatric otologic health disparities in Hispanic populations: A PRISMA-based systematic review.
International journal of pediatric otorhinolaryngologyEmbarking on a Treatment Journey: Experiences of Caregivers of Young Children With Craniofacial Microsomia.
The Journal of craniofacial surgeryThe Relationship Between Microtia and Complex Chronic Conditions: A Comprehensive Analysis of 20 000 Patients.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIdentification and Analysis of Differentially Expressed Ferroptosis-Related Genes in Microtia.
The Journal of craniofacial surgeryClarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.
The Journal of craniofacial surgeryHearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort.
Birth defects researchRib Autograft Versus Porous Polyethylene Implant Outcomes in Microtia Reconstruction: A Meta-Analysis and Systematic Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAudiometric Trends Among Children With Congenital Aural Atresia or External Auditory Canal Stenosis.
The LaryngoscopeA Practical Guide to Microtia Scoring: Step-by-Step.
AJNR. American journal of neuroradiologyExploring Osia System's auditory outcome and the surgical benefits of posterior placement of BI300 in children with microtia.
International journal of pediatric otorhinolaryngologyDouble Tissue Expanders in Auricular Reconstruction for Patients Following Aural Atresia Repair.
The LaryngoscopeJAG2: A Potential Biomarker for Microtia Identified by Integrated RNA Transcriptome Analysis.
Current genomicsClinical Characteristics, Concomitant Malformations and Hearing Status in Congenital Microtia - A Retrospective Analysis of 635 Cases.
American journal of otolaryngologyRacial, Ethnic, and Socioeconomic Trends in Microtia and Anotia Care.
The Journal of craniofacial surgeryEthical Considerations in Pediatric External Ear Surgery.
Plastic surgery (Oakville, Ont.)A systematic review of congenital external ear anomalies and their associated factors.
Frontiers in pediatricsEvaluating the Environmental Impact of Quaternary Plastic Surgery: An Eco-audit of the Autologous Microtia Reconstruction Pathway.
Plastic and reconstructive surgery. Global openEfficacy and safety of ultrasound-guided bilateral superficial serratus anterior plane block for postoperative analgesia in pediatric ear reconstruction with costal cartilage harvest: a randomized controlled trial.
Journal of anesthesiaBonebridge BCI 602 implantation in syndromic and non-syndromic patients with bilateral microtia and aural atresia.
International journal of pediatric otorhinolaryngology3D-Printed Scaffolds for Ear Reconstruction Using Decellularized Human Cartilage-Derived Bioink and Polycaprolactone.
ACS biomaterials science & engineeringSystematic Review on Microtia: Current Knowledge and Future Directions.
Children (Basel, Switzerland)Single-Stage Ear Reconstruction Simultaneous With Piezoelectric Osia® Bone Conduction Implantation.
Annals of plastic surgeryAdipose-mesenchymal stem cells enhance the formation of auricular cartilage in vitro and in vivo.
Stem cells translational medicineA Novel Advantage to Microtia Reconstruction Utilizing Ear Molding: A Case Report of Goldenhar Syndrome's Clinical Presentation and Surgical Reconstruction.
CureusGenetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees.
Human molecular geneticsStrategies for Surgical Refinement of the Antihelical Complex Using Autologous Costal Cartilage in Auricular Reconstruction for Microtia.
Facial plastic surgery & aesthetic medicineA Modified Two-Flap Method for First-Stage Ear Reconstruction in Lobule-Type Microtia.
Aesthetic plastic surgeryCommon cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.
Genome researchMicrotia Reconstruction Practices Among Otolaryngologists in the United States.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryArtificial Intelligence Applications in Pediatric Craniofacial Surgery.
Diagnostics (Basel, Switzerland)Application and Effectiveness of the Perioperative Position Management in Patients with Congenital Microtia.
Plastic and reconstructive surgeryInfluence of vascular anatomy and perfusion on complications in the first stage of total auricular reconstruction.
Journal of plastic, reconstructive & aesthetic surgery : JPRASClinical significance and audiological outcomes in bilateral microtia: Simultaneous auricle reconstruction and BONEBRIDGE implantation via retrosigmoid sinus approach.
International journal of pediatric otorhinolaryngologyAudiological assessment using click auditory brainstem response and chirp auditory steady-state response in pediatric patients with congenital microtia under 36 months: A single-center experience.
International journal of pediatric otorhinolaryngologyLong-term clinical and audiometric outcomes after the implantation of piezoelectric bone conduction devices in children: a prospective cohort study.
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 SurgeryMicrotia with Coexistent Large External Auditory Canal Cholesteatoma: A Case Report.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiMicrotia Reconstruction: 30-Day Outcomes for Autograft Versus Implant Reconstruction in a National Surgical Database.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationArtificial intelligence assisted identification of newborn auricular deformities via smartphone application.
EClinicalMedicineFibrous dysplasia of the temporal bone presenting as a parotid abscess.
The New Zealand medical journalActive Osseointegrated Transcutaneous Bone Conduction Implant: Results of a New Surgical Location in Children with Microtia and External Auditory Canal Atresia.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyAn innovative corrective method: Reutilization of auricular fistula in microtia reconstruction.
Journal of stomatology, oral and maxillofacial surgeryAnalysis of 42 bilateral microtia reconstruction: Comparative study and surgical characteristics.
Journal of plastic, reconstructive & aesthetic surgery : JPRASUltrasound-Guided Serratus Anterior Plane Block Combined with Modified Parasternal Block in Pediatric Patients Undergoing Auricular Reconstruction Surgery Results in Superior Quality of Recovery Compared to a Standalone Serratus Anterior Plane Block.
Aesthetic plastic surgeryBiogeographic Ancestry Analysis of Microtia Patients in Colombia using Nonlinear Probabilistic Clustering.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferencePublisher Correction: Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes.
Scientific reportsAnthropometric Difference of Unilateral Microtia Reconstructed Auricle.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSocioeconomic disparities in reconstructive pediatric microtia surgery.
International journal of pediatric otorhinolaryngologyEvaluation of Family-Centered Care by Parents and Nurses of Children With Congenital Microtia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThe application of multilayered three-dimensional costal cartilage framework in auricular reconstruction with expanded postauricular skin flap.
Journal of plastic, reconstructive & aesthetic surgery : JPRASReadability and Quality of Microtia Online Information by Large Organizations in English and Spanish.
The LaryngoscopeSurgical decision-making regarding hearing and ear reconstruction in craniofacial microsomia: Exploring caregiver narratives.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryThe Challenges and Considerations with Autologous Rib Microtia Reconstruction.
Facial plastic surgery : FPS[The application of porous polyethylene biological scaffolds combined with temporoparietal fascial flaps in auricular reconstruction].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryDeciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.
Orphanet journal of rare diseasesImprovement of Quality of Life After Microtia Reconstruction Using a Modified Firmin Technique-Case Series of 130 Patients.
Aesthetic plastic surgeryCartilage allograft for reconstruction of acquired and congenital total and subtotal auricular defects: A systematic review.
Journal of plastic, reconstructive & aesthetic surgery : JPRASMicrotia in Indonesia: Characteristics and Family History Analysis on the Presence of Other Congenital Anomalies in Patients With Microtia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationHOXB6 down-regulation induced by retinoic acid pathway repression leads to chondrocyte proliferation inhibition and apoptosis in microtia.
Genes & diseasesIntravenous Sedation in a Patient With Sotos Syndrome and Intellectual Disability: A Case Report.
CureusSpectrum of Otological Manifestations in Treacher Collins Syndrome: A Case Series of 9 Patients.
Journal of computer assisted tomographyEpidemiological Characteristics and Maternal Risk Factors of Microtia and Aural Atresia in Kazakhstan.
International archives of otorhinolaryngologyComparative analysis of small-incision and traditional techniques in costal cartilage harvesting: Outcomes on thoracic deformities and scar appearance.
International journal of pediatric otorhinolaryngologyAn Overview of the Currently Used Congenital Auricular Anomalies (CAA) Classifications for Surgical Reconstruction: A Scoping Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Pilot Study of the Anthropometric Growth Pattern of the Human Auricle of the North Indian Region.
CureusAutomated xeno-free chondrogenic differentiation from human embryonic stem cells: Enhancing efficiency and ensuring high-quality mass production.
Regenerative therapyDe Novo Missense Mutation in FREM1 Identified in a Chinese Patient with Comorbid Congenital Microtia and Pulmonary Hypoplasia.
The Journal of craniofacial surgeryToward improved auricle reconstruction: The role of FDM 3D printing with PCL and TPU materials.
Biomaterials advancesA novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Orphanet journal of rare diseasesStudy on Time Distribution and Pathogenic Bacteria of Infection After Auricular Reconstruction With Tissue Expansion for Microtia.
The Journal of craniofacial surgeryBenefit Finding in Craniofacial Conditions: A Qualitative Analysis of Patient and Parent Perspectives.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSingle-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes.
Scientific reportsDouble network hydrogels encapsulating genetically modified dedifferentiated chondrocytes for auricular cartilage regeneration.
Journal of materials chemistry. BAudiological performance and subjective satisfaction of the ADHEAR system in experienced pediatric users with unilateral microtia and aural atresia.
International journal of pediatric otorhinolaryngology"Mortise and Tenon Joint" Technique to Improve the Stability of Three-Dimensional Costal Cartilage Framework in Fully Expansion Ear Reconstruction.
The Journal of craniofacial surgeryAuditory and Speech Outcomes Following Transcutaneous Bone Conduction Hearing Implantation.
CureusThree-dimensional printing technology for the positioning of the reconstructed auricle in microtia reconstruction.
Journal of stomatology, oral and maxillofacial surgeryTriangular flaps combined with full-thickness skin graft for repairing concha-type microtia.
Journal of plastic, reconstructive & aesthetic surgery : JPRASKey Decision-Making Factors in Pediatric Microtia Repair.
The Annals of otology, rhinology, and laryngology"Man vs. Machine: 3D Milling of Auricular Frameworks".
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationGenetics of Nonsyndromic Microtia and Congenital Aural Atresia: A Scoping Review.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryAn innovative CRISPR/Cas9 mouse model of human isolated microtia indicates the potential contribution of CNVs near HMX1 gene.
International journal of pediatric otorhinolaryngologyAudiological and Subjective Benefits in a Child with Microtia and Atresia After Sequential Bilateral Implantation with Active Bone Conduction Devices: A Case Study.
Children (Basel, Switzerland)Advances in the Application of Microsurgical Techniques in Repairing Traumatic Auricular Defects.
The Journal of craniofacial surgeryMultidisciplinary Treatment of Hemifacial Microsomia: Several Clinical Cases.
Clinics and practiceImaging of Treacher Collins syndrome: A case report.
Radiology case reportsA Cartilage-Saving Technique for Tragus and Antitragus Fabrication in Auricular Reconstruction.
Facial plastic surgery & aesthetic medicineNeuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings.
Therapeutic advances in rare diseaseTemporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021.
World journal of pediatrics : WJPAnalyzing Discrepancies and Correlations in Soft and Hard Tissue Asymmetry: A Focused Study on Hemifacial Microsomia and Isolated Microtia.
Aesthetic plastic surgeryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.
- Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.
- A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41719335mais citado
- 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.
- Hearing rehabilitation in patients with Treacher Collins syndrome.
- Quantifying 3D Shape in Microtia Reconstruction Using 3D Surface Scanning: A Pilot Phantom-and-Case Study.
- CRABP2 upregulation in perichondral stem cells is associated with microtia.
- Reconstruction of microtia with crus helicis transversal deformity using flap technique combined with ear cartilage transplantation: a retrospective study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:83463(Orphanet)
- OMIM OMIM:600674(OMIM)
- MONDO:0010920(MONDO)
- GARD:431(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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
