Esta síndrome é caracterizada pela associação de microtia, coloboma ocular e imperfuração do ducto nasolacrimal.
Introdução
O que você precisa saber de cara
Esta síndrome é caracterizada pela associação de microtia, coloboma ocular e imperfuração do ducto nasolacrimal.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 2 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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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 - coloboma ocular - ducto nasolacrimal imperfurado
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Publicações mais relevantes
Mostrando amostra de 131 publicações de um total de 7.533
Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.
CHARGE syndrome is a rare multisystem disorder, with ocular colobomas being the most frequent ophthalmic manifestation. Lacrimal drainage system anomalies are distinctly uncommon, with only a handful of cases reported. We describe two children with CHARGE syndrome who presented with bilateral lower punctal agenesis and complex nasolacrimal duct obstruction (NLDO). The first patient had recurrent dacryocystitis and long-standing epiphora; examination revealed bilateral absence of the lower puncta, right NLDO, and partial stenosis of the left nasolacrimal duct. He underwent right external dacryocystorhinostomy and left lacrimal probing with bilateral monocanalicular stenting, resulting in resolution of infection and marked reduction of tearing. The second patient had bilateral bony obstruction; probing revealed a hard stop within the duct that prevented stent placement, and surgery was deferred. These cases expand the limited spectrum of lacrimal anomalies in CHARGE syndrome and highlight the importance of careful lacrimal evaluation and the potential role of CT imaging in guiding management.
Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.
Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused by microdeletions in 7q11.23. This study aimed to evaluate ophthalmic manifestations in Chinese children with WS. Children diagnosed with WS were retrospectively recruited for the study. Clinical data were analyzed to obtain visual outcomes, optical biometry, and the incidence of different ocular manifestations. A total of 218 patients (134 males; 84 females) with Williams syndrome were included, with a median age of 4.15 (3.61) years. Refractive analysis revealed clinically significant refractive errors in 70.18% (153/218), comprising myopia in 28.44% (62/218), hyperopia in 5.50% (12/218), and astigmatism in 62.39% (136/218); anisometropia (≥ 1.00D) was present in 7.34% (16/218).Ocular biometry (154 patients, 308 eyes) showed mean axial length of 21.67 ± 0.90 mm and keratometry of 44.07 ± 1.66 D. Strabismus prevalence was 7.34% (16/218), predominantly esotropia (11/218, 5.05%). External examination identified bilateral congenital nasolacrimal duct obstruction in 46.79% (102/218), entropion in 25.23% (55/218), allergic conjunctivitis in 20.64% (45/218), and ptosis in 0.92% (2/218). WS is a complex multisystem genetic disorder with diverse ophthalmic findings. Our study revealed a high incidence of refractive errors, dominated by astigmatism in WS patients.We observed shorter axial lengths compared to age-matched peers. Esotropia was the predominant form of strabismus. Nasolacrimal duct obstruction, entropion also occurred frequently.These ocular manifestations warrant early clinical attention in Chinese WS patients.
Suspected Calvarial Hyperostosis Syndrome Causing Different Ophthalmological Signs in Two Young Labrador Retrievers-Case Report.
To describe calvarial hyperostosis syndrome (CHS) as a potential and unusual cause of exophthalmos or epiphora in young dogs. A nine-month-old female intact (case 1) and a two-year-old male intact Labrador Retriever (case 2). Patient history, including previous treatments, was documented. Both cases underwent physical and ophthalmological examinations, computed Tomography (CT), and histopathological analysis. Additional dacryocystorhinography (DCR) was performed in case 2. Lateral exophthalmos of the left eye was the primary clinical sign in case 1. In case 2, serous lacrimal discharge was observed without other signs of ocular irritation. A slightly thickened and firm area distal to the medial canthus of the right eye was also noted. In this case, Jones 1 test on the right side was negative, whereas Jones test 2 revealed increased resistance when flushing the nasolacrimal system. CT imaging in both cases identified solid, smoothly marginated new bone formation. In case 1, this involved the left frontal bone, occipital bone, parietal bone, and temporal bone. In case 2, the new bone formation affected the right lacrimal bone and frontal process of the maxillary bone, leading to encasement and narrowing of the nasolacrimal duct (NLD). Histopathological analysis revealed active bone remodeling with osteoblasts in case 1, while case 2 demonstrated regularly differentiated trabecular lamellar bone with intertrabecular spaces. No evidence of neoplasia or osteomyelitis was observed in either case. Taken together, these findings strongly support a diagnosis of CHS in both cases. CHS involving flat bones can present as exophthalmos or epiphora and should be considered in the differential diagnoses of these conditions, particularly in young dogs.
FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease.
The purpose of this study was to identify pathogenic variants associated with congenital bony nasolacrimal duct obstruction (bony CNLDO) and to clarify genotype-phenotype correlations. In this single-center retrospective case study, children with clinically confirmed bony CNLDO and their relatives underwent detailed ophthalmic, systemic examinations, orbital computed tomography (CT), and maxillofacial magnetic resonance imaging (MRI). Whole-exome sequencing (WES) was performed on peripheral blood samples. Bioinformatics tools were utilized to predict variant pathogenicity, and classifications were performed according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Thirty-two participants were included in this study, comprising six families and seven sporadic cases. WES identified 8 novel FGF10 variants, including 6 missense mutations (c.598C>G, c.316T>G, c.395T>C, c.316T>C, c.327C>G, and c.332T>G), one intronic splicing mutation (c.429+2T>A), and one heterozygous deletion at chromosome 5p12 encompassing the FGF10 gene. Two sporadic cases had no identifiable pathogenic variants. All patients with FGF10 variants exhibited syndromic aplasia of lacrimal and salivary glands (ALSGs) phenotype characterized by bony CNLDO, punctal anomalies, and hypoplasia of lacrimal, parotid, and submandibular glands. Three novel IGSF3 variants were also identified including two missense mutations (c.2872G>C and c.2531G>A) and one nonsense mutation (c.2416G>T). In contrast, individuals carrying IGSF3 variants showed isolated bony CNLDO with normal glandular morphology. Bony CNLDO is predominantly a monogenic disorder involving FGF10 or IGSF3. FGF10 mutations are associated with syndromic, multi-gland hypoplasia, whereas IGSF3 mutations result in isolated bony CNLDO. These findings enhance understanding of the genetic heterogeneity and genotype-phenotype correlations underlying bony CNLDO, with real-world implications for genetic diagnosis and counseling.
Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.
Objective: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by EFNB1 pathogenic variants. It is characterized by coronal synostosis, facial asymmetry, hypertelorism, bifid nasal tip, woolly hair, longitudinal nail ridging, and skeletal anomalies in heterozygous females. Hemizygous males paradoxically display a less severe phenotype. This study aims to further define the clinical and mutational spectrum of CFNS in 8 new families. Materials and Methods: Nine female and 2 male patients were included. After detailed phenotypic characterization, Sanger sequencing of EFNB1 was performed, followed by deletion duplication analysis of mutation-negative patients. Results: Universal findings in affected females included wide nasal bridge, hypertelorism, and nasal tip abnormalities. Clinical features were consistent with literature data in the majority, except for 2 females with a mild phenotype resembling hemizygous males. Rare or previously undescribed features included enlarged cisterna magna, nasolacrimal duct obstruction, mesoaxial polydactyly, small echogenic kidney, and hypoplastic labia minora in females, and metopic groove, columellar skin pit, and absent midline mustache hair in males. Genetic analyses identified 6 EFNB1 variants, including a novel variant, heterozygous in females and hemizygous in males. One female patient with a classical CFNS phenotype had no identifiable EFNB1 variant. Conclusion: This study of the largest CFNS cohort from Türkiye expands the phenotypic spectrum in affected males and females and contributes to the genetic landscape of EFNB1 variants. Two females of the cohort with a phenotype at the mildest end of the CFNS spectrum emphasize the importance of recognizing atypical CFNS presentations for timely diagnosis and accurate genetic counseling.
Publicações recentes
Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
Potential mechanisms of the glucocorticoid withdrawal syndrome.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report.
📚 EuropePMCmostrando 130
Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.
Orbit (Amsterdam, Netherlands)FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease.
Investigative ophthalmology & visual scienceEndoscopic and surgical evaluation of epiphora in children with Down syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusMultidisciplinary management of nasal and lacrimal drainage disorders in ectrodactyly-ectodermal dysplasia-clefting syndrome.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyOphthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieRadiographic Changes of the Nasolacrimal Duct in Silent Sinus Syndrome.
Seminars in ophthalmologyMagnetic removal of fragmented Crawford hook during nasolacrimal duct probing.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusNasolacrimal Lavage as a Treatment for Ocular Surface Toxic Soup Syndrome.
Journal of visualized experiments : JoVELacrimal drainage pathway disease-associated keratopathy effectively diagnosed with dacryoendoscopy: a report of two cases.
BMC ophthalmologyClinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.
Turkish archives of pediatricsExploring the Ocular Transmission Potential of Severe Acute Respiratory Syndrome Coronavirus 2 and the Assessment of Conjunctival Swab Test Results: A Concise Review.
Journal of current ophthalmologyExudative retinal detachment in a pediatric patient with Rubinstein-Taybi syndrome.
Retinal cases & brief reportsSuspected Calvarial Hyperostosis Syndrome Causing Different Ophthalmological Signs in Two Young Labrador Retrievers-Case Report.
Veterinary ophthalmologyDown syndrome is a risk factor for developing corneal ulcers following nasolacrimal duct stenting.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusOrbital compartment syndrome in orbital mucormycosis: spot the threat through radiologist's eye.
Emergency radiologyExpansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.
American journal of ophthalmology case reportsUnderstanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation.
BiomedicinesNasolacrimal Duct Obstruction in a Patient With Sotos Syndrome.
Ophthalmic plastic and reconstructive surgeryThe effect of age on congenital nasolacrimal duct obstruction probing and stent intubation outcomes in pediatric Down syndrome patients.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusDuplication of the Lacrimal Sac With Three Canaliculi.
Ophthalmic plastic and reconstructive surgeryDry eye and decreased tear film stability in primary acquired nasolacrimal duct obstruction patients.
International ophthalmologyUpdate on lacrimal apparatus dysfunction associated with differentiated thyroid cancer after I-131 therapy.
International ophthalmologyManagement and outcomes of congenital nasolacrimal duct obstruction in trisomy 21 patients vs. non-trisomy 21 patients within a paediatric population: a 5-year follow-up.
Orbit (Amsterdam, Netherlands)Bilateral Dacryocystoceles in Congenital Arhinia.
Ophthalmic plastic and reconstructive surgery[Dacryocystorhinostomy with a counteropening in the treatment of secondary nasolacrimal duct obstruction after radioiodine therapy].
Vestnik oftalmologiiLacrimal Obstruction in Craniosynostosis: Anatomical and Genetic Risk Factors.
Ophthalmic plastic and reconstructive surgeryDilemmas in the management of lacrimal drainage anomalies in BOSMA (congenital arhinia-microphthalmia) syndrome.
Orbit (Amsterdam, Netherlands)Ophthalmic features of Lamb-Shaffer syndrome: a case series.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusOcular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.
American journal of medical genetics. Part AVirtual Reality and Mixed Reality-Assisted Endoscopic DCR in Extremely Complex Lacrimal Obstructions.
The Laryngoscope[The lacrimal apparatus as an organ at risk during radionuclide therapy].
Problemy endokrinologiiA Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
Molecular syndromologyBony Congenital Nasolacrimal Duct Obstruction: A Novel Phenotype of Aplasia of Lacrimal and Major Salivary Glands.
OphthalmologyComputed Tomographic Evaluations in Patients with Empty Nose Syndrome.
The LaryngoscopeRe: "Outcome of Primary Monocanalicular Stent Placement in Pediatric Down Syndrome Patients with Congenital Nasolacrimal Obstruction".
Ophthalmic plastic and reconstructive surgeryCase report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality.
Frontiers in geneticsDry Eye Assessment of Patients Undergoing Endoscopic Dacryocystorhinostomy for Nasolacrimal Duct Obstruction Combined with Dry Eye Syndrome.
Korean journal of ophthalmology : KJOBilateral Nasolacrimal Duct Obstruction Managed With Probing and Irrigation in a Patient With FGF10-Associated Lacrimo-auriculo-dento-digital Syndrome.
Journal of pediatric ophthalmology and strabismusIgG4-Related Disease Mimicking Unilateral Urothelial Carcinoma: A Rare Case Report and Literature Review.
Clinical medicine insights. Case reportsMeibomian Gland Dysfunction in Primary Acquired Nasolacrimal Duct Obstruction.
The Journal of craniofacial surgeryOutcome of Primary Monocanalicular Stent Placement in Pediatric Down Syndrome Patients with Congenital Nasolacrimal Obstruction.
Ophthalmic plastic and reconstructive surgeryIdentification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome.
International journal of ophthalmologyThe Ophthalmic Manifestations of Down Syndrome.
Children (Basel, Switzerland)Evaluating the outcomes of children undergoing lacrimal surgery for congenital nasolacrimal duct obstruction with the aim of developing a patient pathway for children presenting to a tertiary paedatric service with epiphora.
The Journal of laryngology and otologyBilateral Congenital Nasolacrimal Duct Obstruction in Williams-Beuren Syndrome.
Ophthalmic plastic and reconstructive surgeryGoldenhar syndrome associated with lacrimal system agenesis: A case report.
American journal of ophthalmology case reportsOcular Cyclopentolate: A Mini Review Concerning Its Benefits and Risks.
Clinical ophthalmology (Auckland, N.Z.)The ocular graft-versus-host disease: the path from current knowledge to future managements.
Eye (London, England)Lacrimal drainage anomalies in Pierre Robin sequence.
Orbit (Amsterdam, Netherlands)A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.
Journal of pediatric ophthalmology and strabismusExtended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia.
Children (Basel, Switzerland)Tear instability in the fellow eye of unilateral nasolacrimal obstruction and resolution with dacryocystorhinostomy.
Orbit (Amsterdam, Netherlands)Reduced tear break-up time in the fellow eye of patients with unilateral primary acquired nasolacrimal duct obstruction.
International ophthalmologyDown syndrome: a review of ocular manifestations.
Therapeutic advances in ophthalmologyAntineutrophil Cytoplasmic Antibody-Associated Vasculitis With Immunoglobulin G4 Involvement in Lacrimal Sac Squamous Cell Carcinoma.
Ophthalmic plastic and reconstructive surgeryPrimary Monocanalicular Stent Intubation for Children With Congenital Nasolacrimal Duct Obstruction: Surgical Outcome and Risk Factors.
Ophthalmic plastic and reconstructive surgeryManagement of congenital nasolacrimal duct obstruction in down syndrome.
Eye (London, England)Ophthalmological manifestations in 6 patients diagnosed with Williams-Beuren syndrome and literature review.
Archivos de la Sociedad Espanola de OftalmologiaRefining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
American journal of medical genetics. Part ASevere ophthalmia neonatorum in Southwest China: a 5-year review of demographics, microbiological results, and risk factors.
International ophthalmologyPrevalence and Risk Factors of Dry Eye Symptoms after Successful Dacryocystorhinostomy for Patients with Lacrimal Passage Obstruction.
European journal of ophthalmologyA case of blepharophimosis: Freeman Sheldon syndrome.
Ophthalmic geneticsCOVID-19 and the Eye: Ocular Manifestations, Treatment and Protection Measures.
Ocular immunology and inflammationEvaluation of lacrimal drainage system in Pseudoexfoliation syndrome.
Eye (London, England)Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.
Orbit (Amsterdam, Netherlands)Extended Anterior Inferior Approach to Endoscopic Medial Maxillectomy for Maxillary Sinus Lesions.
American journal of rhinology & allergyAcute dacryocystitis retention syndrome due to Epstein-Barr virus.
Archivos de la Sociedad Espanola de OftalmologiaWaardenburg Syndrome Associated With Bilateral Nasolacrimal Duct Obstruction.
Journal of pediatric ophthalmology and strabismusNovel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature.
Molecular syndromologyModified ocular surface disease index as a screening criteria for dry eye syndrome presenting after successful dacryocystorhinostomy.
PloS oneEndoscopic combined middle and inferior meatal antrostomies approach in treatment of maxillary sinus inverting papilloma.
Wideochirurgia i inne techniki maloinwazyjne = Videosurgery and other miniinvasive techniquesUpdates on congenital lacrimal drainage anomalies and their association with syndromes and systemic disorders: A major review.
Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische GesellschaftChanges in Corneal Subbasal Nerves after Punctal Occlusion in Dry Eye Disease.
Current eye researchCongenital nasolacrimal duct obstruction update study (CUP study): Paper II - Profile and outcomes of complex CNLDO and masquerades.
International journal of pediatric otorhinolaryngologyUpdate and Recommendations for Ocular Manifestations of COVID-19 in Adults and Children: A Narrative Review.
Ophthalmology and therapyPunctal agenesis and delayed-onset dacryocystocele in CHARGE syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusOphthalmological abnormalities in Down syndrome among Brazilian patients.
American journal of medical genetics. Part ACHARGE syndrome without colobomas: Ophthalmic findings.
American journal of medical genetics. Part C, Seminars in medical geneticsLacrimal drainage system involvement in Peters anomaly: clinical features and outcomes.
Orbit (Amsterdam, Netherlands)Ocular Symptoms of SARS-CoV-2: Indication of Possible Ocular Transmission or Viral Shedding.
Ocular immunology and inflammationCerebral palsy and associated complex congenital nasolacrimal duct obstruction and pediatric acute dacryocystitis.
Orbit (Amsterdam, Netherlands)Double puncta canaliculi may exhibit different clinical presentations.
Arquivos brasileiros de oftalmologiaRole of the Eye in Transmitting Human Coronavirus: What We Know and What We Do Not Know.
Frontiers in public healthCOVID-19: Ophthalmological Aspects of the SARS-CoV 2 Global Pandemic.
Klinische Monatsblatter fur AugenheilkundeChanges of Visual Symptoms and Functions in Patients with and without Dry Eye after Lacrimal Passage Obstruction Treatment.
Current eye researchReversible Endoscopic Medial Maxillectomy: Endonasal Approach to Diseases of the Maxillary Sinus.
International archives of otorhinolaryngologyLacrimal drainage system anomalies in Williams-Beuren syndrome.
Orbit (Amsterdam, Netherlands)Prevalence and Treatment Outcome of Nasolacrimal Duct Obstruction in Saudi Children with Down Syndrome.
CureusLoss of Pacer Spikes as electrocardiographic (EKG) Artifact Due to Microdebrider Use During Endoscopic Dacryocystorhinostomy.
Ophthalmic plastic and reconstructive surgeryA rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.
European journal of ophthalmologyHypohidrotic ectodermal dysplasia: a case report.
Orbit (Amsterdam, Netherlands)Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome.
Yeungnam University journal of medicineLacrimal Drainage Anomalies in CHARGE Syndrome: Case Report and Review of Literature.
Ophthalmic plastic and reconstructive surgeryA case with acquired lacrimal fistula due to Sjögren's syndrome.
American journal of ophthalmology case reportsOcular surface system alterations in ocular graft-versus-host disease: all the pieces of the complex puzzle.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieA Case of Velocardiofacial Syndrome With Bilateral Inferior Punctum and Canalicular Agenesis.
Ophthalmic plastic and reconstructive surgeryProlactin and Prolactin-inducible protein (PIP) in the pathogenesis of primary acquired nasolacrimal duct obstruction (PANDO).
Medical hypothesesOutcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction.
Orbit (Amsterdam, Netherlands)[Relative effectiveness of methods of obturating the lacrimal duct in the treatment of patients with dry eye syndrome].
Vestnik oftalmologiiPunctal and peri-punctal involvement in Urbach-Wiethe syndrome: case report and review of literature.
Orbit (Amsterdam, Netherlands)Dry eye after Lester Jones tube insertion for epiphora.
Orbit (Amsterdam, Netherlands)Ocular Complications in PHACE Syndrome: A True Association or a Coincidence?
The Journal of pediatricsLacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature.
Orbit (Amsterdam, Netherlands)Plasma gelsolin promotes re-epithelialization.
Scientific reportsLate dacryocystorhinostomy failure from lacrimal sump syndrome with pseudo-sac formation.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieThe Narrow-Lumen Jones Tube: A Novel Approach to Dry Eye Following Conjunctivodacryocystorhinostomy.
Ophthalmic plastic and reconstructive surgeryAmniotic Band Syndrome: A Review of 2 Cases.
Ophthalmic plastic and reconstructive surgeryExternal Dacryocystorhinostomy; Success Rate and Causes of Failure in Endoscopic and Pathologic Evaluations.
Iranian journal of pathologyPatterns of ophthalmic emergencies presenting to a referral hospital in Medina City, Saudi Arabia.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyLacrimal drainage anomalies in congenital rubella syndrome.
Clinical ophthalmology (Auckland, N.Z.)Botulinum neurotoxin injection for the treatment of epiphora in nasolacrimal duct obstruction.
Journal francais d'ophtalmologieGraft versus host disease: what should the oculoplastic surgeon know?
Current opinion in ophthalmologyIntranasal Tear Neurostimulation: An Emerging Concept in the Treatment of Dry Eye.
International ophthalmology clinicsImage-guided lacrimal drainage surgery in congenital arhinia-microphthalmia syndrome.
Orbit (Amsterdam, Netherlands)A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India.
Journal of pediatric ophthalmology and strabismusSmad4 in T cells plays a protective role in the development of autoimmune Sjögren's syndrome in the nonobese diabetic mouse.
OncotargetChanges in intraocular pressure and tear secretion in patients given 5 mg solifenacin for the treatment of overactive bladder.
International urogynecology journalDistinguishing computed tomography findings in patients with empty nose syndrome.
International forum of allergy & rhinologyUnilateral Alacrima as a Presenting Symptom of Nasopharyngeal Carcinoma.
Ophthalmic plastic and reconstructive surgeryRarely Seen Nasal Congenital Problems Causing Neonatal Upper Respiratory Obstruction: A Case Series.
Pediatric reports[Craniofacial fibrous dysplasia].
La Revue de medecine interneHigh-resolution dacryoendoscopy for observation for pediatric lacrimal duct obstruction.
American journal of ophthalmology case reportsBilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.
Indian journal of ophthalmologyEndoscopic Modified Medial Maxillectomy for Resection of an Inverted Papilloma Originating from the Entire Circumference of the Maxillary Sinus.
Case reports in otolaryngologyA Lacrimal Sump Syndrome With a Large Intranasal Ostium.
The Journal of craniofacial surgeryCongenital dacryocystoceles controlled by nCPAP via nasal mask in a neonate.
Pediatrics international : official journal of the Japan Pediatric SocietyChange in quality of life of patients undergoing silicone stent intubation for nasolacrimal duct stenosis combined with dry eye syndrome.
The British journal of ophthalmologyThe clinical effectiveness of transcanalicular diode laser-assisted revision surgery for failed endoscopic endonasal dacryocystorhinostomy.
The British journal of ophthalmology[A case of lacrimal duct obstruction caused by capecitabine].
Gan to kagaku ryoho. Cancer & chemotherapy[Ophthalmological manifestations of Cornelia de Lange syndrome: Case report and review of the literature].
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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.
- Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.
- Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie· 2026· PMID 41105201mais citado
- Suspected Calvarial Hyperostosis Syndrome Causing Different Ophthalmological Signs in Two Young Labrador Retrievers-Case Report.
- FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease.
- Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.
- Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
- A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
- Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
- Potential mechanisms of the glucocorticoid withdrawal syndrome.
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:139450(Orphanet)
- OMIM OMIM:611863(OMIM)
- MONDO:0012739(MONDO)
- GARD:10300(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55783842(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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