Craniossinostose que não faz parte de uma síndrome maior.
Introdução
O que você precisa saber de cara
Craniossinostose que não faz parte de uma síndrome maior.
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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
+ 32 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 63 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
4 genes identificados com associação a esta condição.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activati
Cell membraneNucleusCytoplasm, cytosolCytoplasmic vesicle
Pfeiffer syndrome
A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on
Nucleus
Saethre-Chotzen syndrome
A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduct
NucleusCytoplasm
Craniosynostosis 6
A form of craniosynostosis, 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.
Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development
Secreted, extracellular space, extracellular matrix, basement membrane
Bifid nose, with or without anorectal and renal anomalies
A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
Variantes genéticas (ClinVar)
719 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
29 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 — Craniossinostose não-sindrômica
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
0 ensaios clínicos encontrados.
Publicações mais relevantes
Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.
This study aimed to assess executive functioning in everyday activities of participants with non-syndromic craniosynostosis, to compare their performance with a control group, to assess the relationship between the timing of surgery and executive functioning, and to determine the proportion of participants scoring in the clinical range for executive functions. Twenty-nine participants with craniosynostosis and 30 controls were assessed with the parent version of the Behavior Rating Inventory of Executive Function 2 (BRIEF-2). Both groups scored similarly. However, the older the participant with craniosynostosis at the time of the surgery, the greater their difficulties in Task Initiation, Working Memory, Planning, and Monitoring. Only a small percentage (0-17%) of participants with craniosynostosis scored in the clinically significant range; this proportion was similar to that of the control group. This study did not find substantial difficulties in executive functions in daily activities in participants with non-syndromic craniosynostosis, but it did find an association between late surgery and lower scores in some cold executive functions. The study suggests that early surgical intervention could have a potential neurodevelopmental benefit for children and adolescents with craniosynostosis.
Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.
Optical coherence tomography (OCT) can be a valuable tool for non-invasively monitoring the optic nerve status in children with craniosynostosis. However, it is currently unknown whether optic nerve parameters derived from handheld OCT are comparable to those derived from table-mounted OCT, which is more widely used. This study aims to assess the feasibility and reproducibility of handheld and table-mounted OCT in craniosynostosis. This was a cross-sectional study conducted at Great Ormond Street Hospital (GOSH), London. Twenty children aged 4-18 years with a clinical/genetic diagnosis of craniosynostosis were included. Bilateral optic nerve head OCT imaging was performed using the Spectralis (Heidelberg Engineering), followed by the handheld Envisu C2300 (Leica Microsystems). Primary outcome measures were quantitative cup, disc, rim and peripapillary parameters. Intraclass correlation coefficients (ICC) and coefficient of variation (CoV) were calculated for each quantitative OCT parameter. 20 children (100%) were successfully recruited. Median age at the time of OCT examination was 6 years (range: 4-16; IQR: 5-8). Ten participants (50%) were female. Seven participants (35%) had syndromic craniosynostosis and 13 participants (65%) had non-syndromic craniosynostosis. Bilateral imaging success was 100% for both machines. ICCs were good-to-excellent for all parameters, ranging from 0.81 to 1.00. The coefficient of variation was low for all parameters. OCT imaging of the optic nerve is feasible in school-aged children with craniosynostosis and comparable between the Spectralis and handheld Envisu OCT. This could allow comparison and pooling of data between the two machines, greatly enhancing patient care and future research.
Concurrent posterior vault expansion and extradural Chiari decompression in syndromic and non-syndromic craniosynostosis: a case series.
Chiari malformation (CM) may occur in patients with craniosynostosis, and the presence of both in anatomically similar locations allows for simultaneous treatment. In this study, we analyze concurrent posterior vault distraction osteogenesis (PVDO) or posterior vault reconstruction (PVR) with extradural Chiari decompression for the management of suspected increased intracranial pressure (ICP) in patients with syndromic and atypical non-syndromic craniosynostosis. Patients who underwent concurrent PVDO/PVR and extradural Chiari decompression at a single institution from 2008 to 2024 were included. Of interest were patient/caregiver-reported symptomatology and radiographic findings related to CM reported by a board-certified neuroradiologist. Descriptive, Chi-square, and Fisher's exact tests were utilized for analysis. Eight patients met the inclusion criteria. Fifty percent (n = 4) had syndromic craniosynostosis and 50% (n = 4) had non-syndromic craniosynostosis; half (n = 4) underwent PVDO, and half (n = 4) underwent PVR. One patient (12.5%) had a post-operative complication (distractor infection), with no long-term sequelae. One hundred percent (n = 8) had resolution of clinical symptoms at the first follow-up, and 85.7% (n = 6/7) at the last follow-up; 50.0% (n = 4) of patients had improvement, and 50.0% (n = 4) had a stable presentation of CM on post-operative imaging. While most patients with radiologic improvement in CM were in the PVDO group compared to PVR (75% (n = 3/4) vs. 25% (n = 1/4), p = 0.5), this study was underpowered to detect a significant difference between techniques. Posterior vault expansion with extradural Chiari decompression in patients with concomitant suspected increased ICP and craniosynostosis appears safe and relatively effective at extended follow-up. Additional study of its long-term effects, patient selection, and comparison of PVDO vs PVR is warranted.
Examining Sociodemographic Disparities in Diagnostic Delays and Surgical Management of Non-Syndromic Craniosynostosis: A 10-Year Review.
ObjectiveTo investigate the impact of sociodemographic factors on the surgical management and outcomes of patients with non-syndromic craniosynostosis, with a focus on delays in diagnosis and intervention.DesignRetrospective cohort study.SettingTertiary pediatric hospital.PatientsThree hundred seventy-three non-syndromic patients who underwent primary craniosynostosis surgery between 2013 and 2023.Main Outcome MeasuresPrimary outcomes included age at first specialty appointment, age at diagnosis, age at surgery, and type of surgery (CVR, open cranial vault remodeling; or ES + HT, endoscopic suturectomy + helmet therapy). Secondary outcomes included postoperative complications, need for additional craniofacial procedures, and length of hospital stay.ResultsPatients undergoing CVR were older at the time of specialty appointments (median 6.6 vs. 1.9 months, P < 0.001), diagnosis (median 8.1 vs. 2.1 months, P < 0.001), and surgery (median 11.3 vs. 2.9 months, P < 0.001) compared to those undergoing ES + HT. When controlling procedure type and sociodemographic variables, private insurance was a predictor of earlier diagnosis (β=-3.06, 95% CI [-5.97, -0.16], P = 0.039) and earlier surgical intervention (β=-3.55, 95% CI [-6.67, -0.42], P = 0.026). Independent predictors of longer hospital stay included Hispanic ethnicity (β=0.45, 95% CI [0.03, 0.87], P = 0.035) and higher national Area Deprivation Index (ADI) score (β=0.014, 95% CI [0.008, 0.021], P < 0.001). After multivariable adjustment, complication rates and the need for additional craniofacial procedures did not differ significantly between ES + HT and CVR.ConclusionPatients with public insurance were more likely to experience a delay in diagnosis and, consequently, underwent a more invasive CVR procedure than privately insured patients. Hispanic ethnicity and higher ADI were associated with longer hospitalizations.
Difference in anterior fontanelle closure between non-syndromic craniosynostosis and normal controls: a retrospective cross-sectional study.
This study aimed to investigate the differences in anterior fontanelle closure time and size between children with non-syndromic craniosynostosis and controls on CT imaging. A retrospective cross-sectional study was conducted involving 182 children with non-syndromic craniosynostosis and 2,777 age-matched controls (≤ 36 months). The status, size, and timing of anterior fontanelle closure were compared between the two groups. Receiver Operating Characteristic (ROC) curve analysis was utilized to assess the diagnostic value of anterior fontanelle measurements. Additionally, correlation analysis was performed to determine the relationship between age and fontanelle size. Patients with craniosynostosis exhibited higher closure rates under 24 months, particularly at 7-9 months (22.7% vs. 3.2%, P < 0.0001) and 10-12 months (50.0% vs. 6.9%, P < 0.0001), but lower closure rates at 25-36 months (80.0% vs. 94.0%, P < 0.01). ROC curve analysis identified an optimal cut-off age for fontanelle closure of 9.5 months in craniosynostosis patients (AUC = 0.85) and 17.5 months in controls (AUC = 0.93). Spearman correlation analysis revealed weaker relationships between age and fontanelle size in craniosynostosis patients compared to controls. Anterior fontanelle measurements, particularly closure timing and size, have potential as assistant markers for the early identification of craniosynostosis. However, definitive diagnosis requires clinical evaluation and imaging confirmation. These findings underscore the importance of early recognition and intervention in craniosynostosis to prevent complications.
Publicações recentes
Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.
Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.
Concurrent posterior vault expansion and extradural Chiari decompression in syndromic and non-syndromic craniosynostosis: a case series.
Examining Sociodemographic Disparities in Diagnostic Delays and Surgical Management of Non-Syndromic Craniosynostosis: A 10-Year Review.
Difference in anterior fontanelle closure between non-syndromic craniosynostosis and normal controls: a retrospective cross-sectional study.
📚 EuropePMC60 artigos no totalmostrando 87
Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFeasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.
Eye (London, England)Concurrent posterior vault expansion and extradural Chiari decompression in syndromic and non-syndromic craniosynostosis: a case series.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryExamining Sociodemographic Disparities in Diagnostic Delays and Surgical Management of Non-Syndromic Craniosynostosis: A 10-Year Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationDifference in anterior fontanelle closure between non-syndromic craniosynostosis and normal controls: a retrospective cross-sectional study.
Italian journal of pediatricsLong-term neurocognitive and behavioral outcomes in patients with non-syndromic craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEye Tracking Technology as an Adjunct in Medical Education: Our Experience at the National Paediatric Craniofacial Centre in Ireland.
The Journal of craniofacial surgeryCraniosynostosis: Experience From a Single Tertiary Center in India.
CureusNon-syndromic craniosynostosis.
Nature reviews. Disease primersThe Efficacy of Postoperative Helmet Therapy After Open Cranial Vault Remodeling for Nonsyndromic Craniosynostosis.
The Journal of craniofacial surgeryNovel digital measurement system for predicting surgical outcomes in patients with primary non-syndromic craniosynostosis.
Journal of oral biology and craniofacial researchPrevalence and treatment outcomes of hydrocephalus among children with craniofacial syndromes.
Journal of plastic surgery and hand surgeryA Preliminary Study of Hearing Loss in Children With Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCerebral Cortical Changes in Craniosynostosis: A Systematic Review.
CureusOpen versus endoscopic surgery with helmet molding therapy in non-syndromic patients with craniosynostosis: an updated systematic review and meta-analysis of clinical outcomes and treatment-related costs.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRisk of Reading Difficulties in School-age Children Treated for Non-syndromic Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationComparison of syndromic and non-syndromic craniosynostosis cases followed in a tertiary pediatric intensive care unit: a case control study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryOcular manifestations of craniosynostosis in Saudi Arabia.
Journal francais d'ophtalmologieExploring Different Management Modalities of Nonsyndromic Craniosynostosis.
CureusAttention Deficit/Hyperactivity Disorder in Individuals with Non-Syndromic Craniosynostosis: A Systematic Review and Meta-Analysis.
Developmental neuropsychologyParental satisfaction with hospital care for children with non-syndromic craniosynostosis: A mixed-method study.
Journal of pediatric nursingHealth-Related Quality of Life in Mexican Children and Adolescents with Non-Syndromic Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIn Vitro Assessment of the Neuro-Compatibility of Fe-20Mn as a Potential Bioresorbable Material for Craniofacial Surgery.
Medicina (Kaunas, Lithuania)Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study.
Birth defects researchEvaluation of neurocognitive and social developments after craniosynostosis surgery.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEndoscopy-Assisted Craniosynostosis Surgery Versus Cranial Vault Remodeling for Non-Syndromic Craniosynostosis: Experience of a Single Center.
Turkish neurosurgeryStrabismus and refraction in non-syndromic craniosynostosis - A longitudinal study up to 5 years of age.
Acta ophthalmologicaPlea for systematic prenatal genes panel testing when facing isolated craniosynostosis on fetal imaging.
European journal of obstetrics, gynecology, and reproductive biologyArtificial Intelligence Applications in Diagnosing and Managing Non-syndromic Craniosynostosis: A Comprehensive Review.
CureusGenetic diagnostic yield in an 11-year cohort of craniosynostosis patients.
European journal of medical geneticsLong-term neurocognitive outcomes in 204 single-suture craniosynostosis patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCognitive performance in preschoolers with non-syndromic craniosynostosis undergoing surgery: A comparison with typically developing children.
Applied neuropsychology. ChildMolecular Mechanisms Involved in Craniosynostosis.
In vivo (Athens, Greece)Sex Differences in Comorbidities of Pediatric Craniosynostosis at Presentation.
Pediatric neurosurgeryRetroperitoneal liposarcoma and craniosynostosis: possible genomic relationship, case report, and literature review.
Functional & integrative genomicsHealth-related quality of life of children treated for non-syndromic craniosynostosis.
Journal of plastic surgery and hand surgerySpring forces and calvarial thickness predict cephalic index changes following spring-mediated cranioplasty for sagittal craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAppearance or attitude: what matters to craniosynostosis patients? Association of self-esteem, depressive symptoms, and facial aesthetics in patients with sagittal and metopic synostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryHigh risk factors for craniosynostosis during pregnancy: A case-control study.
European journal of obstetrics & gynecology and reproductive biology: XPolycystin-1 regulates cell proliferation and migration through AKT/mTORC2 pathway in a human craniosynostosis cell model.
Journal of cellular and molecular medicineApplication of Deep Learning Techniques for Automated Diagnosis of Non-Syndromic Craniosynostosis Using Skull.
The Journal of craniofacial surgeryPrevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis.
Journal of clinical medicinePsychological and Physical Health Outcomes in Adults With Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAnterior fontanelle closure and diagnosis of non-syndromic craniosynostosis: a comparative study using computed tomography.
Jornal de pediatriaCraniosynostosis Surgery for Increased Intracranial Pressure.
The Journal of craniofacial surgeryDe novo ALX4 variant detected in child with non-syndromic craniosynostosis.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicasFeasibility and Repeatability of Handheld Optical Coherence Tomography in Children With Craniosynostosis.
Translational vision science & technologyOphthalmic features of craniosynostosis: A Malaysian experience.
European journal of ophthalmologyOphthalmological findings in children with non-syndromic craniosynostosis: preoperatively and postoperatively up to 12 months after surgery.
BMJ open ophthalmologyPosterior vault distraction osteogenesis: indications and expectations.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryOcular biometric features of pediatric patients with fibroblast growth factor receptor-related syndromic craniosynostosis.
Scientific reportsNeuro-Ophthalmological Manifestations of Craniosynostosis: Current Perspectives.
Eye and brainDistinguishing craniomorphometric characteristics and severity in metopic synostosis patients.
International journal of oral and maxillofacial surgeryA Role for Artificial Intelligence in the Classification of Craniofacial Anomalies.
The Journal of craniofacial surgeryAdvanced parental age: Is it contributing to an increased incidence of non-syndromic craniosynostosis? A review of case-control studies.
Journal of oral biology and craniofacial researchComputational modelling of patient specific spring assisted lambdoid craniosynostosis correction.
Scientific reportsUnderstanding families' experiences following a diagnosis of non-syndromic craniosynostosis: a qualitative study.
BMJ openA Technique for Minimizing the Need for Hemotransfusion in Non-Syndromic Craniosynostosis Surgery.
The Journal of craniofacial surgeryTCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Human molecular geneticsBehavioral functioning of school-aged children with non-syndromic craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe Influence of Epigenetic Factors in Four Pairs of Twins With Non-Syndromic Craniosynostosis.
The Journal of craniofacial surgeryBehavioral Disorders of Preschool Children With Non-Syndromic Craniosynostosis.
The Journal of craniofacial surgeryFollow-up study to investigate symmetry and stability of cranioplasty in craniosynostosis - Introduction of new pathology-specific parameters and a comparison to the norm population.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryRole of Autologous Fat Injection in Neglected Patients With Anterior Plagiocephaly.
The Journal of craniofacial surgeryNon-syndromic craniosynostosis treated by frontal orbital advancement: A case report.
The Medical journal of MalaysiaNon-Syndromic Craniosynostosis Mimicking Primary Pseudotumor Cerebri Syndrome.
HeadachePrenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.
Congenital anomaliesCo-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis.
Human genome variationImage based simulation of the low dose computed tomography images suggests 13 mAs 120 kV suitability for non-syndromic craniosynostosis diagnosis without iterative reconstruction algorithms.
European journal of radiologyNon-syndromic craniosynostosis in children: Scoping review.
Medicina oral, patologia oral y cirugia bucalAn audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children.
International journal of pediatric otorhinolaryngologyVolumetric lipoinjection of the fronto-orbital and temporal complex with adipose stem cells for the aesthetic restoration of sequelae of craniosynostosis.
Archives of plastic surgeryNon-syndromic single-suture craniosynostosis in triplets.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySyndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.
Frontiers in neuroscienceDetermining the fate of cranial sutures after surgical correction of non-syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryDe novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
Proceedings of the National Academy of Sciences of the United States of AmericaMultidisciplinary care of craniosynostosis.
Journal of multidisciplinary healthcareBone Fusion in Normal and Pathological Development is Constrained by the Network Architecture of the Human Skull.
Scientific reports[Guide to clinical practice for the diagnosis, treatment and rehabilitation of non-syndromic craniosynostosis on 3 levels of care].
Cirugia y cirujanos[Non syndromic craniosynostosis].
Annales de chirurgie plastique et esthetiqueThe Management of Blood Loss in Non-Syndromic Craniosynostosis Patients Undergoing Barrel Stave Osteotomy.
Turkish neurosurgery[Craniosynostosis and strabismus].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyReduction of transfusion requirements in pediatric craniosynostosis surgery by a new local hemostatic agent.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery[INFLUENCED ARBEPOETINALFA TO REDUCE THE NUMBER OF BLOOD TRANSFUSION IN CHILDREN WITH NON-SYNDROMIC CRANIOSYNOSTOSIS.].
Anesteziologiia i reanimatologiiaNeurodevelopmental Problems in Non-Syndromic Craniosynostosis.
Journal of Korean Neurosurgical SocietyNovel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient.
Journal of pediatric neurosciencesA 3D morphometric follow-up analysis after frontoorbital advancement in non-syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Craniossinostose não-sindrômica.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Craniossinostose não-sindrômica
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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.
- Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2026· PMID 41820702mais citado
- Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.
- Concurrent posterior vault expansion and extradural Chiari decompression in syndromic and non-syndromic craniosynostosis: a case series.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2026· PMID 41586824mais citado
- Examining Sociodemographic Disparities in Diagnostic Delays and Surgical Management of Non-Syndromic Craniosynostosis: A 10-Year Review.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association· 2026· PMID 41512090mais citado
- Difference in anterior fontanelle closure between non-syndromic craniosynostosis and normal controls: a retrospective cross-sectional study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:139390(Orphanet)
- MONDO:0015337(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56013709(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
