A doença de Crouzon é caracterizada por craniossinostose e hipoplasia facial.
Introdução
O que você precisa saber de cara
A doença de Crouzon é caracterizada por craniossinostose e hipoplasia facial.
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
Partes do corpo afetadas
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 51 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity)
Nucleus
Craniosynostosis 4
A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is
Cell membraneGolgi apparatusCytoplasmic vesicleSecreted
Crouzon syndrome
An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.
Variantes genéticas (ClinVar)
438 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 271 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
18 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 — Síndrome Crouzon
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
Pesquisa e ensaios clínicos
40 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Innovative Pediatric Simulator for Difficult Airway Management Training.
Este estudo desenvolveu e validou um simulador pediátrico de alta fidelidade para treinamento em manejo de via aérea difícil, especificamente projetado a partir de dados de um paciente com Síndrome de Crouzon. Criado com modelagem 3D baseada em exames de imagem reais, o manequim oferece realismo anatômico para que médicos pratiquem intubações complexas, como as guiadas por fibra óptica. Isso aumenta a confiança e as habilidades dos profissionais, resultando em maior segurança e melhores resultados para crianças que necessitam de manejo de via aérea desafiador.
🇧🇷 traduzidoEn-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.
Este artigo descreve um novo tratamento promissor para pacientes com Síndrome de Crouzon grave e malformação de Chiari I persistente, que não respondem aos tratamentos padrão. A técnica, inédita, consiste em uma distração da abóbada posterior "en-bloc" que incorpora o forame magno, expandindo simultaneamente a restrição craniana posterior e a fossa posterior. Nos dois casos apresentados, este método resultou na completa resolução dos sintomas, desaparecimento da siringomielia e normalização da anatomia, demonstrando a viabilidade e eficácia de uma abordagem inovadora para condições complexas e refratárias.
🇧🇷 traduzido[Clinical analysis of pregnancy outcomes and prognosis for fetal ventriculomegaly].
Este estudo retrospectivo sobre ventriculomegalia fetal (VM) revela que a VM moderada a grave, bilateral, progressiva na gestação ou combinada com anomalias genéticas são fatores de risco independentes para interrupção da gravidez. Em contraste, um alto nível educacional materno foi um fator protetor para o nascimento de bebês vivos, que na maioria dos casos (139 de 145) apresentaram desenvolvimento normal, embora alguns casos isolados incluíssem síndrome de Crouzon ou atrasos no desenvolvimento. Os resultados reforçam a necessidade de uma equipe multidisciplinar e acompanhamento dinâmico a longo prazo para o manejo clínico de fetos com VM.
🇧🇷 traduzidoMorphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.
Este estudo comparou a morfologia da fossa posterior em síndromes de Apert e Crouzon antes e depois da expansão da abóbada craniana posterior (PCVE). Os resultados mostraram que, enquanto pacientes com Apert se beneficiaram com aumentos significativos no volume da fossa posterior após a cirurgia, pacientes com Crouzon apresentaram melhorias limitadas e, em muitos casos, uma diminuição na proporção volume da fossa posterior/volume intracraniano. Embora a PCVE tenha aumentado o volume, ela não pareceu melhorar a forma da fossa posterior em nenhuma das síndromes, sugerindo que os benefícios para pacientes com Crouzon podem ser mais restritos do que para Apert, o que é relevante para o planejamento cirúrgico e as expectativas.
🇧🇷 traduzidoPhenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation.
Este artigo relata um caso de Síndrome de Crouzon com uma apresentação atípica, onde apenas as suturas temporo-parietais estavam fechadas, resultando em hipertensão intracraniana grave, e causado por uma mutação genética nova (de novo). Para pacientes e médicos, o estudo enfatiza a importância da sequenciação de nova geração (NGS) para um diagnóstico diferencial e preciso, especialmente em casos com manifestações sutis ou incomuns da síndrome, confirmando o diagnóstico e orientando o melhor tratamento.
🇧🇷 traduzidoPublicações recentes
Innovative Pediatric Simulator for Difficult Airway Management Training.
En-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.
[Clinical analysis of pregnancy outcomes and prognosis for fetal ventriculomegaly].
Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.
📖 RevisãoPhenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation.
📖 Revisão📚 EuropePMC358 artigos no totalmostrando 198
Innovative Pediatric Simulator for Difficult Airway Management Training.
IEEE journal of translational engineering in health and medicineEn-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery[Clinical analysis of pregnancy outcomes and prognosis for fetal ventriculomegaly].
Zhonghua fu chan ke za zhiMorphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryPhenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation.
Radiology case reportsTracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
International journal of pediatric otorhinolaryngologyAnalysis of the Learning Curve for a Surgeon Newly Trained in Frontofacial Monobloc Advancement.
The Journal of craniofacial surgeryCrouzonodermoskeletal syndrome requires individualized surgical management: Scoping review of a rare complex craniofacial syndrome.
JPRAS open[Intermediate butterfly osteotomy with rigid external distraction in Crouzon syndromes].
Annales de chirurgie plastique et esthetiquePositive Impact of Frontofacial Advancement on Intracranial Volumes in Patients With Syndromic Craniofaciosynostosis.
Plastic and reconstructive surgery. Global openPrevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta-Analysis.
Orthodontics & craniofacial researchContributing Factors for Angle's Class III Phenotype in Crouzon Syndrome.
European journal of paediatric dentistryA Lifelong Battle With Crouzon Syndrome: A Detailed Case Report of Extensive Craniofacial Surgeries and Complex Psychiatric Care.
CureusCrouzon syndrome: preimplantation genetic testing for a familial case with a whole and a mosaic variant of the disease.
Vavilovskii zhurnal genetiki i selektsiiUse of cartilage-conduction hearing aids in a child with Crouzon syndrome and meatal atresia.
Auris, nasus, larynxMechanistic Role of PIEZO1 in Crouzon Syndrome: Osteogenic Regulation By FGFR2-Mutated Periosteal Progenitors at the Ossification Interface.
The Journal of craniofacial surgeryHighlighting posterior cranial vault expansion remodeling for treating various types of craniosynostosis in children.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDifferential impact of Crouzon and Apert syndromes on upper airways morphology: implications for Obstructive Sleep Apnoea.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryThe influence of closed sutures on cranial morphology in Apert and Crouzon syndromes: A quantitative analysis.
Journal of anatomyFacial asymmetry in syndromic craniosynostosis patients undergoing midface surgery compared to a large general population.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryCurrent Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches.
The Journal of craniofacial surgeryClinical Nasal Deviation Following Midface Advancement in Patients With Syndromic Craniosynostosis.
The Journal of craniofacial surgeryThe cranial base and midface characteristics in apert and Crouzon syndrome: A 3-dimensional analysis of morphological variations.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryUnlocking the potential of allele-specific siRNA therapy: A novel approach for Crouzon syndrome.
Molecular therapy. Nucleic acidsAirway management of a child of Crouzon syndrome with midface distractor in situ.
Journal of anaesthesiology, clinical pharmacologyPostnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.
American journal of medical genetics. Part AStructural and functional stenosis of the upper airway in Crouzon syndrome patients: A computational fluid dynamics analysis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryPerioperative Airway Management for Midface Surgery in Children With Syndromic Craniosynostosis; a Single Center Experience With Immediate Extubation.
Paediatric anaesthesiaTargeted allele-specific FGFR2 knockdown via human recombinant ferritin nanoparticles for personalized treatment of Crouzon syndrome.
Molecular therapy. Nucleic acidsFGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia.
Bone researchSimultaneous Lefort 2 Distraction and Fronto-Orbito-Malar Advancement: Correcting Severe Upper and Midface Retrusion in a Patient With Crouzon Syndrome.
The Journal of craniofacial surgeryBilevel positive airway pressure treatment of sleep apnea syndrome in a patient with Crouzon syndrome.
Sleep & breathing = Schlaf & AtmungNear SUDEP in a patient with craniosynostosis syndrome and temporal lobe encephaloceles.
Epileptic disorders : international epilepsy journal with videotapeRole of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.
Orthodontics & craniofacial researchAnomalous venous collaterals in Apert and Crouzon syndromes and their relationship to ventricle size and increased intracranial pressure.
Journal of neurosurgery. PediatricsReducing the risk of unfavourable fractures in Le Fort III osteotomy via a navigation-guided technique.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryOcular manifestations and treatment progress of Crouzon syndrome.
International ophthalmologyUsing a Disentangled Neural Network to Objectively Assess the Outcomes of Midfacial Surgery in Syndromic Craniosynostosis.
Plastic and reconstructive surgeryOptic canal stenosis in Crouzon syndrome: a case report and literature review.
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoNew CRISPR/Cas9-based Fgfr2C361Y/+ mouse model of Crouzon syndrome exhibits skull and behavioral abnormalities.
Journal of molecular medicine (Berlin, Germany)Cranial bone microarchitecture in a mouse model for syndromic craniosynostosis.
Journal of anatomyOptic nerve elongation during fronto-facial surgery for Crouzon syndrome: 3D quantification and clinical implications.
Journal of neurosurgery. PediatricsRadiological Diagnosis of Crouzon Syndrome: A Case Study.
CureusUnexpected massive bleeding during the modified LeFort III advancement surgery for Crouzon syndrome: A case report.
Clinical case reportsAdenoidectomy in a child with Crouzon syndrome complicated with severe obstructive sleep apnea: Case report and review of literature.
MedicineAn Adult Case of Crouzon Syndrome: Diagnostic Features and Treatment Modalities.
CureusThree-dimensional quantification of soft tissue changes and its relationship to skeletal changes after Le Fort III, monobloc, and facial bipartition in syndromic craniosynostosis.
International journal of oral and maxillofacial surgeryConstruction of a Lentiviral Vector for Fgfr2 Overexpression and its Impact on the Biological Behavior of Cranial Suture Mesenchymal Stem Cells.
The Journal of craniofacial surgeryVolumetric segmentation in the context of posterior fossa-related pathologies: a systematic review.
Neurosurgical reviewSkeletal changes after midface surgery in patients with craniofacial deformities: a three-dimensional quantification method.
International journal of oral and maxillofacial surgeryThirty-Year Experience Treating Syndromic Craniosynostosis: Long-Term Outcomes following Cranial Expansions.
Plastic and reconstructive surgeryAlterations in Sphenoid Anatomy in Craniosynostosis: Implications for Fronto-Orbital Advancement.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSpeech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit.
The Journal of craniofacial surgeryDynamic Morphological Growth Trajectory of Crouzon Population: A Geometric Morphometric Analysis.
The Journal of craniofacial surgeryDosage-dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses.
Anatomical record (Hoboken, N.J. : 2007)Association of cranial base suture/synchondrosis fusion with severity of increased intracranial pressure in Crouzon syndrome.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryCraniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.
Pediatric researchBiometry challenges in the longest eyes we have encountered to date.
American journal of ophthalmology case reportsCorrelation analysis of airway-facial phenotype in Crouzon syndrome by geometric morphometrics: A promising method for non-radiation airway evaluation.
Orthodontics & craniofacial researchSyndromic Craniosynostosis: A Comprehensive Review.
CureusThe influence of orbital architecture on strabismus in craniosynostosis.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusA unique presentation of Crouzon-like syndrome: Complex craniosynostosis in the absence of genetic mutations or familial predisposition - A case report.
Surgical neurology internationalCrouzon Syndrome Spanning Three Generations: Advances in the Treatment of Syndromic Midface Deficiency.
Plastic and reconstructive surgery. Global openPlea for systematic prenatal genes panel testing when facing isolated craniosynostosis on fetal imaging.
European journal of obstetrics, gynecology, and reproductive biologyProgressive myelinated retinal nerve fibers in a 10-year-old boy with Crouzon syndrome after craniofacial surgery.
American journal of ophthalmology case reportsCrouzon syndrome with acanthosis nigricans: a case report and literature review.
Dermatology reports[Acquired form of Chiari 1.5 malformation in Crouzon syndrome (dysostosis craniofacialis)].
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinThe spontaneous mouse mutant low set ears (Lse) is caused by tandem duplication of Fgf3 and Fgf4.
Mammalian genome : official journal of the International Mammalian Genome SocietyAn unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.
Pediatric hematology and oncologyUnravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLong-term follow-up of a patient diagnosed with Crouzon syndrome who underwent Le Fort I and III distraction osteogenesis using a rigid external distractor system.
The Angle orthodontistMysterious Bilateral Foot Pain in a Child With Crouzon Syndrome.
CureusEvaluation of polysomnography findings in children with genetic skeletal disorders.
Journal of sleep researchPosterior Calvarial Augmentation for Syndromic Multi-Sutural Craniosynostosis: Crouzon Syndrome.
Neurology IndiaComparison of Internal and External Distraction in Frontofacial Monobloc Advancement: A Three-Dimensional Quantification.
Plastic and reconstructive surgeryInhalational Induction: A Safe Anaesthetic Management in a Patient with Crouzon Syndrome.
Romanian journal of anaesthesia and intensive careCranial Base Reconstruction and Secondary Frontal Advancement for Meningoencephalocele Following LeFort III Osteotomy in a Patient with Crouzon Syndrome: Case Report.
Archives of plastic surgeryCrouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report.
Journal of medical case reportsTwo-Center Review of Posterior Vault Expansion following a Staged or Expectant Treatment of Crouzon and Apert Craniosynostosis.
Plastic and reconstructive surgeryCrouzon syndrome with kleeblattschädel skull.
Acta neurologica BelgicaThree-Dimensional Evaluation of Dental Arches in Individuals with Syndromic Craniosynostosis.
International journal of dentistryBilateral ESP block: Savior in patient with Crouzon syndrome.
Journal of anaesthesiology, clinical pharmacologyA Case of Crouzon's Syndrome with a True Human Tail.
Journal of plastic and reconstructive surgeryA Case Report on Copper Beaten Skull Appearance: A Forgotten Entity.
CureusSynchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.
Journal of anatomyIdentification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.
DNA and cell biologyWhole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.
MedicineType II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report.
Journal of medical case reportsFGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome.
CellsAn Elderly Patient With Crouzon Syndrome Treated With Monobloc Distraction.
The Journal of craniofacial surgeryThe Effect of Yes-Associated Protein on the Interaction Between the MEK/Extracellular Signal-Regulated Kinase and Hippo Pathways in Osteoblasts Co-Cultured With Fibroblast Growth Factor Receptor 2-Mutated Dura Cells.
The Journal of craniofacial surgeryBehavioral, Learning Skills, and Visual Improvement in Crouzon Syndrome Patient Following Late Posterior Vault Distraction Osteogenesis.
The Journal of craniofacial surgeryThe foramen magnum in scaphocephaly.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
GenesAccuracy of Detecting Obstructive Sleep Apnea Using Ambulatory Sleep Studies in Patients With Syndromic Craniosynostosis.
The Journal of craniofacial surgeryCrouzon syndrome in a fraternal twin: A case report and review of the literature.
World journal of clinical casesCrouzon syndrome and the eye: An overview.
Indian journal of ophthalmologyOrthognathic Surgery in Patients with Syndromic Craniosynostosis.
Oral and maxillofacial surgery clinics of North AmericaSubcranial Midface Advancement in Patients with Syndromic Craniosynostosis.
Oral and maxillofacial surgery clinics of North America[Dislocation of the globe in Crouzon syndrome: A rare complication].
Journal francais d'ophtalmologieFrontofacial Reconstruction Technique Modification With Preservation of Blood Supply to the Monobloc Segment.
The Journal of craniofacial surgeryA dysmorphic mouse model reveals developmental interactions of chondrocranium and dermatocranium.
eLifeMechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome.
Scientific reportsMidface advancement in an adult patient with Crouzon syndrome: Modified LeFort III + LeFort I osteotomy accompanied by genioplasty and nasal dorsum augmentation.
Dental research journalMeckel's Cartilage in Mandibular Development and Dysmorphogenesis.
Frontiers in geneticsSquamosal Suture Synostosis: An Under-Recognized Phenomenon.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA rare case of atlantoaxial rotatory fixation after posterior calvarial vault expansion surgery in a Crouzon patient.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[Perioperative management and complication control of Le Fort Ⅲ osteotomy in children with syndromic craniosynostosis].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyThree-dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome.
Congenital anomaliesGrowth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Bone reportsCrouzon Syndrome Anatomy, Usefulness of Vestibular Orientation.
The Journal of craniofacial surgeryInfluence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation.
Plastic and reconstructive surgeryPosterior Vault Distraction Outcomes in Patients With Severe Crouzon Syndrome Resulting from Ser347Cys and Ser354Cys Mutations.
The Journal of craniofacial surgeryFGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.
The Journal of experimental medicineComputed tomography findings of Crouzon syndrome: A case report.
Radiology case reportsPhenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
Molecular genetics & genomic medicineThe diagnosis and treatment of infant Crouzon syndrome with literature review.
Asian journal of surgeryPrevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis.
Journal of clinical medicineCraniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThe Course and Interaction of Ventriculomegaly and Cerebellar Tonsillar Herniation in Crouzon Syndrome over Time.
Plastic and reconstructive surgery. Global openOrbitofacial morphology changes with different suture synostoses in Crouzon syndrome.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryMorphology of the Occipital Bones and Foramen Magnum Resulting From Premature Minor Suture Fusion in Crouzon Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAn Auxiliary Cranioparietal Anchorage System to Improve the Stability of the Rigid External Distraction Device in Children With Crouzon Syndrome.
The Journal of craniofacial surgeryReducing the Burden of Care: Multidisciplinary Management of Late-Manifested Crouzon Syndrome-A Case Report.
Children (Basel, Switzerland)Algorithm to the treatment of Crouzon syndrome.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryProgressive Myelinated Retinal Nerve Fibers in Children With Craniosynostosis.
Journal of pediatric ophthalmology and strabismusDoes the association between abnormal anatomy of the skull base and cerebellar tonsillar position also exist in syndromic craniosynostosis?
Journal of plastic, reconstructive & aesthetic surgery : JPRASDura cells in the etiopathogenesis of Crouzon syndrome: the effects of FGFR2 mutations in the dura cells on the proliferation of osteoblasts through the hippo/YAP mediated transcriptional regulation pathway.
American journal of translational researchAn Unoperated Crouzon Family Treated with Monobloc Distraction: Challenges and Lessons.
Plastic and reconstructive surgery. Global openLipofilling of the lower eyelids: A craniofacial tool to postpone the facial advancement in craniofacial syndromes.
Journal of stomatology, oral and maxillofacial surgeryDifferential diagnosis of syndromic craniosynostosis: a case series.
Archives of gynecology and obstetricsPerioperative airway complications in infants and children with Crouzon and Pfeiffer syndromes: A single-center experience.
Paediatric anaesthesiaCrouzon syndrome with strabismus.
Asian journal of surgeryA Case of Crouzon Syndrome.
The Journal of the Association of Physicians of IndiaManagement of ventriculomegaly in pediatric patients with syndromic craniosynostosis: a single center experience.
Acta neurochirurgicaSurgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome.
The Journal of craniofacial surgeryDental phenotype in Crouzon syndrome: A controlled radiographic study in 22 patients.
Archives of oral biologyHypercementosis development in a patient with Crouzon syndrome.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryClinical signs, interventions, and treatment course of three different treatment protocols in patients with Crouzon syndrome with acanthosis nigricans.
Journal of neurosurgery. PediatricsOptic canal characteristics in pediatric syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryLack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant.
Case reports in endocrinologyPrenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansRespective Roles of Craniosynostosis and Syndromic Influences on Cranial Fossa Development.
Plastic and reconstructive surgeryComplex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
The LaryngoscopeComprehensive management of Crouzon syndrome: A case report with three-year follow-up.
Journal of orthodonticsThe need to belong: Subjective experiences of living with craniofacial conditions and undergoing appearance-altering surgery.
Body imageTreating Syndromic Craniosynostosis with Monobloc Facial Bipartition and Internal Distractor Devices: Destigmatizing the Syndromic Face.
Clinics in plastic surgeryGenetic and congenital disorders in pre-Hispanic Moche pottery.
American journal of medical genetics. Part C, Seminars in medical geneticsLefort II distraction with zygomatic repositioning versus Lefort III distraction: A comparison of surgical outcomes and complications.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryCrouzon syndrome: posterior fossa volume studies in vestibular orientation.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySyndrome-related outcomes following posterior vault distraction osteogenesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCraniosynostosis: Neonatal Perspectives.
NeoReviewsDisappointing results of spring-assisted cranial vault expansion in patients with Crouzon syndrome presenting with sagittal synostosis.
Neurosurgical focusHydrocephalus treatment in patients with craniosynostosis: an analysis from the Hydrocephalus Clinical Research Network prospective registry.
Neurosurgical focusClinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report.
MedicineSevere chemosis and treatment following fronto-orbital advancement surgery for Crouzon syndrome: A case report.
MedicineCharacteristics of the Sphenoid Bone in Crouzon Syndrome.
The Journal of craniofacial surgeryVirtual planning in Le Fort III distraction osteogenesis: A case series.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryIntracranial Volume Measured and Correlated to Cephalic Index in Syndromic and Nonsyndromic Anterior Brachycephaly.
Annals of plastic surgeryRacial disparity in orbital morphology and spatial relations in unoperated Crouzon patients.
The British journal of oral & maxillofacial surgeryCommentary on "Airway Growth in Preoperative Patients with Crouzon Syndrome" by Lu et al.
Facial plastic surgery & aesthetic medicineAirway Growth in Preoperative Patients with Crouzon Syndrome.
Facial plastic surgery & aesthetic medicineSevere craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCharacterization of dental pulp stem cells isolated from a patient diagnosed with Crouzon syndrome.
Journal of cellular physiologyGrowth patterns of the airway in Crouzon syndrome patients with different types of cranial vault suture synostosis.
International journal of oral and maxillofacial surgeryCervical Spinal Cord Compression and Sleep-Disordered Breathing in Syndromic Craniosynostosis.
AJNR. American journal of neuroradiologySurgical Management of Sinus Pericranii With Crouzon Syndrome.
The Journal of craniofacial surgeryA Pilot Study of Identification Genetic Background of Craniosynostosis Cases.
The Journal of craniofacial surgeryProgressive Postnatal Pansynostosis in Crouzon Syndrome.
The Journal of craniofacial surgeryCrouzon Syndrome and Acanthosis Nigricans With Fibrous Dysplasia of the Maxilla: An Unreported Suggested Triad.
The Journal of craniofacial surgeryPitfalls and Promise of 3-dimensional Image Comparison for Craniofacial Surgical Assessment.
Plastic and reconstructive surgery. Global openRacial Disparity Between Asian and Caucasian Crouzon Syndrome in Skull Morphology.
The Journal of craniofacial surgeryAssessment of long-term quality of life in patients with syndromic craniosynostosis.
Journal of plastic, reconstructive & aesthetic surgery : JPRASCerebrospinal Fluid Leak After Septoplasty in Crouzon Syndrome.
The Journal of craniofacial surgeryGenetic background dependent modifiers of craniosynostosis severity.
Journal of structural biologySevere Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome.
The Journal of craniofacial surgeryGenotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.
The LaryngoscopeSphenoid Bone Structure and Its Influence on the Cranium in Syndromic Versus Nonsyndromic Craniosynostosis.
The Journal of craniofacial surgeryCrouzon syndrome with acanthosis nigricans and prominent diffuse hyperpigmentation associated with gain-of-function A391E mutation in FGFR3 gene.
The Journal of dermatology[Advances in research on Crouzon syndrome and related ophthalmic complications].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyWhat Is the Difference in Cranial Base Morphology in Isolated and Syndromic Bicoronal Synostosis?
Plastic and reconstructive surgeryEarly mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.
BonePosterior Distraction Using Springs in Syndromic and Multisuture Craniosynostosis: Improving the Technique.
The Journal of craniofacial surgeryCircummaxillary Sutures in Patients With Apert, Crouzon, and Pfeiffer Syndromes Compared to Nonsyndromic Children: Growth, Orthodontic, and Surgical Implications.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAlterations of upper airway volume caused by Le Fort III osteodistraction in children.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryForeign Body Reaction to Poly-D-L-Lactic Acid Resorbable Plates Used in Craniofacial Surgery.
The Journal of craniofacial surgeryCrouzon Syndrome in a Ten-week-old Infant: A Case Report.
Saudi journal of medicine & medical sciencesA novel therapeutic hypothesis for craniosynostosis syndromes: Clover to clever.
Medical hypothesesViral delivery of tissue nonspecific alkaline phosphatase diminishes craniosynostosis in one of two FGFR2C342Y/+ mouse models of Crouzon syndrome.
PloS oneSimultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.
Plastic and reconstructive surgerySuccessful management of anesthesia complications in a child with Crouzon syndrome.
Der AnaesthesistRacial disparity of Crouzon syndrome in maxilla and mandible.
International journal of oral and maxillofacial surgeryPatient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature.
Case reports in dentistryCommentary: Anomalous extraocular muscles in Crouzon syndrome with V-pattern exotropia.
Indian journal of ophthalmologyAnomalous extraocular muscles in Crouzon syndrome with V-pattern exotropia.
Indian journal of ophthalmologyAn Infant with Crouzon Syndrome Presenting with Reversible Chronic Airway Obstruction.
AnesthesiologyCraniofacial, oral, and cervical morphological characteristics in Japanese patients with Apert syndrome or Crouzon syndrome.
European journal of orthodonticsAn Overview of Craniosynostosis Craniofacial Syndromes for Combined Orthodontic and Surgical Management.
Oral and maxillofacial surgery clinics of North AmericaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Innovative Pediatric Simulator for Difficult Airway Management Training.
- En-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery· 2026· PMID 41812278mais citado
- [Clinical analysis of pregnancy outcomes and prognosis for fetal ventriculomegaly].
- Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery· 2026· PMID 41747663mais citado
- Phenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:207(Orphanet)
- OMIM OMIM:123500(OMIM)
- MONDO:0007405(MONDO)
- GARD:6206(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q779250(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
