Raras
Buscar doenças, sintomas, genes...
Craniossinostose unifrontoesfenoidal não-sindrômica
ORPHA:620139CID-10 · Q75.0CID-11 · LB70.0YDOENÇA RARA
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Introdução

O que você precisa saber de cara

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Fechamento prematuro da sutura coronal e esfenoidal em um lado do crânio, afetando o desenvolvimento facial e cerebral. Geralmente sem outras anomalias associadas.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0136
Worldwide
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q75.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

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Anos de pesquisa10
Últimos 10 anos200publicações
Pico202530 papers
Linha do tempo
20202016Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

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Nenhum gene associado encontrado

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Tratamento e manejo

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Craniossinostose unifrontoesfenoidal não-sindrômica

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Low-cost beetle-wing fronto-orbital advancement using nonabsorbable suture fixation for non-syndromic trigonocephaly: A single center experience.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia2026 May

Trigonocephaly results from premature fusion of the metopic suture, leading to restricted frontal bone growth and a triangular forehead. Its incidence has increased, and fronto-orbital advancement (FOA) with frontal remodeling is now the standard surgical treatment, However, the use of absorbable fixation system may increase costs and limit accessibility. This study evaluates the aesthetic and functional outcomes of a modified Dhellemmes (Lille) beetle-wing FOA using nonabsorbable sutures as a low-cost alternative for nonsyndromic trigonocephaly. Twenty-four patients aged 6-12 months with nonsyndromic trigonocephaly treated at the Hospital Universitario "Dr. José Eleuterio Gonzalez" between 2019 and 2022 were included. Parental satisfaction regarding aesthetic and functional outcomes was assessed through telephone interviews using a four-point scale (very satisfied: 4; satisfied: 3; slightly satisfied: 2; completely dissatisfied: 1). The study included 15 (62.5%) males and 9 (37.5%) females who underwent bettle-wing FOA at a mean age of 9.2 months. Postoperative evaluation using a structured parent-reported questionnaire demonstrated high aesthetic and functional satisfaction. A significant correlation was observed between aesthetic and functional outcomes (Spearman's ρ = 0.622 and 0.924, respectively; p = 0.05). No intraoperative or postoperative complications were reported. The modified surgical technique using nonabsorbable sutures such as Silk or 3-0 Prolene provides a safe, effective, and affordable alternative for the correction of trigonocephaly in infants. It yields aesthetic and functional outcomes while potentially lowering overall surgical costs, thereby improving accessibility in resource-limited settings.

#2

Fibronectin 1 is required for suture patency and dysregulated across craniosynostosis models in the mouse.

bioRxiv : the preprint server for biology2026 Mar 04

The mammalian skull roof is comprised of calvarial bones, connected through fibrous sutures, that protect the brain and allow for growth. Premature suture closure, or craniosynostosis (CS), impedes expansion, impacting 1 in every 2500 newborns. Despite its genetic heterogeneity, with nearly 80 associated genes, CS manifests as a common phenotype, hinting at a convergent etiological mechanism. Recently, we described how graded expression of extracellular matrix protein Fibronectin (FN1) is required for apical expansion of calvaria and coronal suture patency. Dysregulated FN1 expression has been identified in two human CS syndromes, suggesting its potential as a convergent mechanism of CS. Here, we further investigate the cellular basis for the CS phenotype in the Fn1 mutant mouse. Graded expression of FN1 baso-apically in the cranial mesenchyme was variably dysregulated across mouse models of syndromic and non-syndromic CS and accompanied by diminished apical expansion of frontal bone primordia. In parallel, at later developmental stages we find ectopic osteogenic induction of Six2 + patent suture mesenchyme in the Fn1 mutant. These findings pinpoint FN1 as a crucial regulator of suture patency by modulating calvarial growth and driving cell identity, and differentiation, thus providing a potential target for matrix-mediated treatments.

#3

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 Neurosurgery2026 Mar 13

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.

#4

Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.

Eye (London, England)2026 Feb 24

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.

#5

Incidence of Ocular Abnormalities in Metopic Craniosynostosis: Cranial Vault Reconstruction Versus Endoscopic Suturectomy.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2026 Feb 03

ObjectiveTo compare the incidence of ocular abnormalities in patients with metopic craniosynostosis (MCS) treated with cranial vault reconstruction (CVR) versus endoscopic suturectomy (ESC).DesignRetrospective cohort study using the TriNetX Research Network.SettingMulti-institutional electronic health record database.Patients, ParticipantsA total of 588 pediatric patients with non-syndromic MCS (441 CVR, 147 ESC) were identified by ICD-10 and CPT codes. Propensity score matching and age adjustment were performed to reduce confounding.InterventionsSubjects underwent either CVR or ESC. Ocular and surgical complication outcomes were assessed.Main Outcome Measure(s)Primary outcome is ocular abnormalities. Secondary outcomes include surgical complications and reoperations.ResultsOcular abnormalities were present in 40.31% of MCS patients. CVR was associated with a significantly higher incidence compared to ESC (44.67% vs 27.21%; RR = 1.64; 95% CI: 1.23-2.18). CVR patients had greater rates of strabismus (15.19% vs 7.48%; RR = 2.03; 95% CI: 1.10-3.74), ametropia (29.71% vs 11.56%; RR = 2.57; 95% CI: 1.58-4.20), and astigmatism (15.87% vs 2.72%; RR = 5.84; 95% CI: 2.17-15.70). These differences remained significant after adjusting for age and matching by sex, race, and ethnicity. The ESC group showed ocular outcomes comparable to the general pediatric population.ConclusionsPatients with metopic craniosynostosis have a high rate of ocular abnormalities, and there may be a difference between those who undergo CVR versus ESC. These findings underscore the need for routine ophthalmologic surveillance and future prospective studies are needed to confirm the findings.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Fibronectin 1 is required for suture patency and dysregulated across craniosynostosis models in the mouse.

bioRxiv : the preprint server for biology
2026

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

Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.

Eye (London, England)
2026

Low-cost beetle-wing fronto-orbital advancement using nonabsorbable suture fixation for non-syndromic trigonocephaly: A single center experience.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2026

Incidence of Ocular Abnormalities in Metopic Craniosynostosis: Cranial Vault Reconstruction Versus Endoscopic Suturectomy.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2026

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

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
2025

Shunt Complications in Syndromic versus Non-Syndromic Pediatric Hydrocephalus: A Propensity-Matched Multicenter Analysis of 35,234 Patients.

Pediatric neurosurgery
2025

Partial intracranial volumes in metopic synostosis - pre- and postoperative comparisons with healthy controls.

Journal of plastic surgery and hand surgery
2025

Evaluation of long-term aesthetic outcomes of fronto-orbital advancement using a crossing-the-midline greenstick fracture technique in anterior synostotic plagiocephaly.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Long-term outcome in 415 operated cases with single suture scaphocephaly.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Long-term health-related quality of life and satisfaction following fronto-orbital advancement in non-syndromic metopic synostosis: FACE-Q Craniofacial Module and SCAR-Q.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Difference in anterior fontanelle closure between non-syndromic craniosynostosis and normal controls: a retrospective cross-sectional study.

Italian journal of pediatrics
2025

Methodological considerations in comparing behavioral outcomes after surgical correction of non-syndromic sagittal craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Surgical management of raised ICP in craniosynostosis: experience-based selection of posterior vault expansion techniques.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Anaesthetic management of a patient with isolated non-syndromic sagittal craniosynostosis undergoing cranial vault reconstruction in the sphinx position.

BMJ case reports
2025

Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years.

Orphanet journal of rare diseases
2025

Comparison of behavioral outcomes following cranial vault remodeling versus strip craniectomy for non-syndromic sagittal craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Long-term neurocognitive and behavioral outcomes in patients with non-syndromic craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Eye Tracking Technology as an Adjunct in Medical Education: Our Experience at the National Paediatric Craniofacial Centre in Ireland.

The Journal of craniofacial surgery
2025

Craniosynostosis: Experience From a Single Tertiary Center in India.

Cureus
2025

Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype.

International journal of molecular sciences
2025

Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.

Molecular genetics &amp; genomic medicine
2025

Psychosocial Support for Australian Families Impacted by Craniosynostosis: A Qualitative Study.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Intraoperative Lactate Level as a Predictor of Resuscitation in Open Cranial Vault Reconstruction.

The Journal of craniofacial surgery
2025

Non-syndromic craniosynostosis.

Nature reviews. Disease primers
2025

Preliminary quantitative assessment of surgical outcomes in Craniosynostosis correction procedures: A 3D-Morphometric comparison.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

The Efficacy of Postoperative Helmet Therapy After Open Cranial Vault Remodeling for Nonsyndromic Craniosynostosis.

The Journal of craniofacial surgery
2025

Novel digital measurement system for predicting surgical outcomes in patients with primary non-syndromic craniosynostosis.

Journal of oral biology and craniofacial research
2025

Prevalence and treatment outcomes of hydrocephalus among children with craniofacial syndromes.

Journal of plastic surgery and hand surgery
2025

A morphometric analysis of the cranial base in trigonocephaly.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Fronto-orbital advancement: Comparison of syndromic and nonsyndromic craniosynostosis patients.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

A Preliminary Study of Hearing Loss in Children With Craniosynostosis.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2026

Identifying New Susceptibility Genes of Non-Syndromic Orofacial Cleft Based on Syndromes Accompanied With Craniosynostosis.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Utility of Papilledema for Detection of Elevated Intracranial Pressure in Craniosynostosis.

The Journal of craniofacial surgery
2024

Craniosynostosis incidence with abnormalities of orbital axis on patients under 8 years old.

Surgical neurology international
2024

Cerebral Cortical Changes in Craniosynostosis: A Systematic Review.

Cureus
2024

Open 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 Neurosurgery
2025

Risk 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 Association
2024

Comparison 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 Neurosurgery
2024

Orthoptic findings in trigonocephaly patients after completed visual development.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Understanding the heterogenicity of unicoronal synostosis - A morphometric analysis of cases compared to controls.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2024

Ocular manifestations of craniosynostosis in Saudi Arabia.

Journal francais d'ophtalmologie
2024

Evaluating mechanical benefit of wedge osteotomies in endoscopic surgery for sagittal synostosis using patient-specific 3D-printed models.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2024

Exploring Different Management Modalities of Nonsyndromic Craniosynostosis.

Cureus
2024

Cranial bone thickness and density anomalies quantified from CT images can identify chronic increased intracranial pressure.

Neuroradiology
2024

Attention Deficit/Hyperactivity Disorder in Individuals with Non-Syndromic Craniosynostosis: A Systematic Review and Meta-Analysis.

Developmental neuropsychology
2024

Parental satisfaction with hospital care for children with non-syndromic craniosynostosis: A mixed-method study.

Journal of pediatric nursing
2024

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

Journal of anatomy
2025

Health-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 Association
2024

In Vitro Assessment of the Neuro-Compatibility of Fe-20Mn as a Potential Bioresorbable Material for Craniofacial Surgery.

Medicina (Kaunas, Lithuania)
2024

Brain volume in infants with metopic synostosis: Less white matter volume with an accelerated growth pattern in early life.

Journal of anatomy
2024

Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study.

Birth defects research
2024

[Prospective analysis of inflammatory markers and perioperative clinical data in children with craniosynostosis undergoing reconstructive surgery].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2024

Evaluation of neurocognitive and social developments after craniosynostosis surgery.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Endoscopy-Assisted Craniosynostosis Surgery Versus Cranial Vault Remodeling for Non-Syndromic Craniosynostosis: Experience of a Single Center.

Turkish neurosurgery
2024

Strabismus and refraction in non-syndromic craniosynostosis - A longitudinal study up to 5 years of age.

Acta ophthalmologica
2023

A Subdural Hygroma Necessitating a Subdural-Peritoneal Shunt in a Pediatric Patient Following Total Cranial Vault Remodeling Surgery.

Cureus
2023

Delayed Presentation and Treatment of Sagittal Synostosis: A Case Report.

Cureus
2024

Prenatal diagnostic approaches diagnosed craniosynostosis and identified a novel nonsense variant in SMAD6 in a Chinese fetus.

Gene
2024

YouTube™ as a source of parents' information for craniosynostosis.

Orthodontics &amp; craniofacial research
2023

Plea for systematic prenatal genes panel testing when facing isolated craniosynostosis on fetal imaging.

European journal of obstetrics, gynecology, and reproductive biology
2024

Patient-reported outcome measures more than fifteen years after treatment of sagittal or metopic craniosynostosis: a prospective cohort study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Artificial Intelligence Applications in Diagnosing and Managing Non-syndromic Craniosynostosis: A Comprehensive Review.

Cureus
2023

Pre-Operative Ocular Findings and Long-Term Follow-Up in a Large Cohort of Non-Syndromic Unicoronal Craniosynostosis.

Journal of clinical medicine
2023

Torticollis in Non-Syndromic Unicoronal Craniosynostosis Is Predominantly Ocular Related.

Journal of clinical medicine
2023

Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients.

European journal of medical genetics
2023

Oxycephaly-systematic review, case presentation, and diagnostic clarification.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms - a narrative review.

Frontiers in pediatrics
2023

The biomechanics of chewing and suckling in the infant: A potential mechanism for physiologic metopic suture closure.

PLoS computational biology
2023

[Evaluation of the clinical efficacy of minimally invasive endoscopic surgery in the treatment of isolated non-syndromic sagittal synostosis in infants].

Zhonghua yi xue za zhi
2023

Early bone reformation after cranial vault remodelling for sagittal craniosynostosis: A retrospective 3D analysis.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2023

Postoperative computed tomography imaging of pediatric patients with craniosynostosis: radiation dose and image quality comparison between multi-slice computed tomography and O-arm cone-beam computed tomography.

Pediatric radiology
2023

Long-term neurocognitive outcomes in 204 single-suture craniosynostosis patients.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Cognitive performance in preschoolers with non-syndromic craniosynostosis undergoing surgery: A comparison with typically developing children.

Applied neuropsychology. Child
2023

Long-term aesthetic and photogrammetric outcomes in non-syndromic unicoronal synostosis: comparison of fronto-orbital distraction osteogenesis and fronto-orbital advancement and remodeling.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Practical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus.

Pediatric neurosurgery
2023

Dental management of a pediatric patient with progressive familial intrahepatic cholestasis having dental anomalies: a case report and brief review of the literature.

BMC oral health
2023

Molecular Mechanisms Involved in Craniosynostosis.

In vivo (Athens, Greece)
2023

Sex Differences in Comorbidities of Pediatric Craniosynostosis at Presentation.

Pediatric neurosurgery
2022

Retroperitoneal liposarcoma and craniosynostosis: possible genomic relationship, case report, and literature review.

Functional &amp; integrative genomics
2023

Health-related quality of life of children treated for non-syndromic craniosynostosis.

Journal of plastic surgery and hand surgery
2023

The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Spring 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 Neurosurgery
2022

Posterior cranial vault distraction osteogenesis: A systematic review.

Journal of oral biology and craniofacial research
2023

Aesthetic results in children with single suture craniosynostosis: proposal for a modified Whitaker classification.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Assessing Long-Term Neurodevelopment among Children with Non-Syndromic Single Suture Craniosynostosis.

World journal of plastic surgery
2022

The foramen magnum in scaphocephaly.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Multidisciplinary Care Considerations for Patients with Craniosynostosis.

Oral and maxillofacial surgery clinics of North America
2022

Appearance 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 Neurosurgery
2022

Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.

Genes
2022

Long-term ophthalmological outcomes in patients with anterior plagiocephaly managed with a fronto-orbital advancement procedure.

Journal francais d'ophtalmologie
2022

Utility of Preoperative Helmet Molding Therapy in Patients With Isolated Sagittal Craniosynostosis.

The Journal of craniofacial surgery
2022

Endoscopic treatment of sagittal suture synostosis - a critical analysis of current management strategies.

Neurosurgical review
2022

Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study.

Pediatric research
2022

High risk factors for craniosynostosis during pregnancy: A case-control study.

European journal of obstetrics &amp; gynecology and reproductive biology: X
2022

Polycystin-1 regulates cell proliferation and migration through AKT/mTORC2 pathway in a human craniosynostosis cell model.

Journal of cellular and molecular medicine
2022

Application of Deep Learning Techniques for Automated Diagnosis of Non-Syndromic Craniosynostosis Using Skull.

The Journal of craniofacial surgery
2022

Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis.

Journal of clinical medicine
2022

Neurocognitive outcomes of children with non-syndromic single-suture craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Ophthalmological findings in children with unicoronal craniosynostosis.

European journal of ophthalmology
2023

Parental Satisfaction from Telemedicine in the Follow-up of Children Operated for Craniosynostosis during COVID-19 Pandemic.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

Incidence of Non-Syndromic and Syndromic Craniosynostosis in Sweden.

The Journal of craniofacial surgery
2022

Craniofacial Dysmorphology in Infants With Non-Syndromic Unilateral Coronal Craniosynostosis.

The Journal of craniofacial surgery
2022

The use of a single-piece bone flap for cranial reshaping in anterior craniosynostosis patients: clinical experience and a description of a novel technique.

Maxillofacial plastic and reconstructive surgery
2023

Psychological and Physical Health Outcomes in Adults With Craniosynostosis.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

Anterior fontanelle closure and diagnosis of non-syndromic craniosynostosis: a comparative study using computed tomography.

Jornal de pediatria
2022

Syndromic Craniosynostosis: Objective and Parent-Reported Outcome Measurements after Cranio-Facial Remodelling Surgeries.

Pediatric neurosurgery
2022

Antifibrinolytics Are Not Associated With Reduced Blood Loss in Minimally-Invasive Endoscopic-Assisted Craniectomy for Repair of Single-Suture Craniosynostosis.

The Journal of craniofacial surgery
2022

Craniosynostosis Surgery for Increased Intracranial Pressure.

The Journal of craniofacial surgery
2022

Long-term Outcomes of Non-syndromic and Syndromic Craniosynostosis: Analysis of Demographic, Morphologic, and Surgical Factors.

Neurologia medico-chirurgica
2021

De novo ALX4 variant detected in child with non-syndromic craniosynostosis.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
2021

Spring-assisted posterior vault expansion-a single-centre experience of 200 cases.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Health-related quality of life in children after surgical treatment of non-syndromal craniosynostosis.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2021

Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis.

Genes
2021

Using Perfusion Contrast for Spatial Normalization of ASL MRI Images in a Pediatric Craniosynostosis Population.

Frontiers in neuroscience
2021

Feasibility and Repeatability of Handheld Optical Coherence Tomography in Children With Craniosynostosis.

Translational vision science &amp; technology
2021

Secondary Raised Intracranial Pressure After Cranial Vault Remodeling for Isolated Sagittal Craniosynostosis.

The Journal of craniofacial surgery
2022

Ophthalmic features of craniosynostosis: A Malaysian experience.

European journal of ophthalmology
2021

Trigonocephaly and Cranium Bifidum Occultum Treated Simultaneously Using the Split-Bone Technique and Piezosurgery.

Cureus
2021

Ophthalmological findings in children with non-syndromic craniosynostosis: preoperatively and postoperatively up to 12 months after surgery.

BMJ open ophthalmology
2021

New method for quantification of the relative severity and (a)symmetry of isolated metopic synostosis.

International journal of oral and maxillofacial surgery
2021

Posterior vault distraction osteogenesis: indications and expectations.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Ocular biometric features of pediatric patients with fibroblast growth factor receptor-related syndromic craniosynostosis.

Scientific reports
2021

Identification of differentially expressed proteins between fused and open sutures in sagittal nonsyndromic craniosynostosis during suture development by quantitative proteomic analysis.

Proteomics. Clinical applications
2021

Neuro-Ophthalmological Manifestations of Craniosynostosis: Current Perspectives.

Eye and brain
2021

Distinguishing craniomorphometric characteristics and severity in metopic synostosis patients.

International journal of oral and maxillofacial surgery
2021

Emissary veins and pericerebral cerebrospinal fluid in trigonocephaly: do they define a specific subtype?

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

A Role for Artificial Intelligence in the Classification of Craniofacial Anomalies.

The Journal of craniofacial surgery
2021

Synostosis of the lambdoid suture: a spectrum.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Advanced 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 research
2021

Serum nickel is associated with craniosynostosis risk: Evidence from humans and mice.

Environment international
2020

Computational modelling of patient specific spring assisted lambdoid craniosynostosis correction.

Scientific reports
2020

Craniosynostosis: To Study the Spectrum and Outcome of Surgical Intervention at a Tertiary Referral Institute in India.

Journal of pediatric neurosciences
2020

Understanding families' experiences following a diagnosis of non-syndromic craniosynostosis: a qualitative study.

BMJ open
2021

Secondary Coronal Synostosis After Early Surgery for Sagittal Craniosynostosis: Implications for Cranial Growth.

The Journal of craniofacial surgery
2020

Spring-Assisted Strip Craniectomy Versus Cranial Vault Remodeling: Long-Term Psychological, Behavioral, and Executive Function Outcomes.

The Journal of craniofacial surgery
2021

Total Cranial Reconstruction for the Treatment of Sagittal Craniosynostosis in Children.

The Journal of craniofacial surgery
2021

A Technique for Minimizing the Need for Hemotransfusion in Non-Syndromic Craniosynostosis Surgery.

The Journal of craniofacial surgery
2020

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Human molecular genetics
2020

Craniosynostosis in an Indian Scenario: A Long-term Follow-up.

Plastic and reconstructive surgery. Global open
2021

Sporting activity after craniosynostosis surgery in children: a source of parental anxiety.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

"Black bone": the new backbone in CAD/CAM-assisted craniosynostosis surgery?

Acta neurochirurgica
2020

Timing of Ossification of the Anterior Skull Base in Syndromic Synostosis.

The Journal of craniofacial surgery
2020

Correlation of Intracranial Volume With Head Surface Volume in Patients With Multisutural Craniosynostosis.

The Journal of craniofacial surgery
2020

Public Perception of a Normal Head Shape in Children With Sagittal Craniosynostosis.

The Journal of craniofacial surgery
2020

The Effect of Fronto-Orbital Advancement on Frontal Sinus Development and Function in Non-Syndromic and Syndromic Craniosynostosis.

The Journal of craniofacial surgery
2020

22q11.2 deletion syndrome and congenital heart disease.

American journal of medical genetics. Part C, Seminars in medical genetics
2020

Single-suture craniosynostosis: is there a correlation between preoperative ophthalmological, neuroradiological, and neurocognitive findings?

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Orbito-facial dysmorphology in patients with different degrees of trigonocephaly severity: quantitative morpho-volumetric analysis in infants with non-syndromic metopic craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Behavioral functioning of school-aged children with non-syndromic craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Incidence of delayed intracranial hypertension in children with isolated sagittal synostosis following open calvarial vault reconstruction.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

The Influence of Epigenetic Factors in Four Pairs of Twins With Non-Syndromic Craniosynostosis.

The Journal of craniofacial surgery
2020

Behavioral Disorders of Preschool Children With Non-Syndromic Craniosynostosis.

The Journal of craniofacial surgery
2020

Cranial growth in isolated sagittal craniosynostosis compared with normal growth in the first 6 months of age.

Journal of anatomy
2019

The removal of cranial springs used in the treatment of scaphocephaly: A minimal access approach.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2019

Genetic bases of craniosynostoses: An update.

Neuro-Chirurgie
2019

[Neuropsychological consequences of craniosynostosis: Non-syndromic scaphocephaly].

Neuro-Chirurgie
2019

Recent advances in trigonocephaly.

Neuro-Chirurgie
2019

Sagittal suture craniosynostosis or craniosynostoses? The heterogeneity of the most common premature fusion of the cranial sutures.

Neuro-Chirurgie
2019

What remains of non-syndromic bicoronal synostosis?

Neuro-Chirurgie
2019

Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model.

PloS one
2019

Follow-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 Surgery
2019

Chiari type I and hydrocephalus.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

Role of Autologous Fat Injection in Neglected Patients With Anterior Plagiocephaly.

The Journal of craniofacial surgery
2019

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.

Human genetics
2019

Two novel variants in the TCF12 gene identified in cases with craniosynostosis.

The application of clinical genetics
2019

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.

European journal of human genetics : EJHG
2019

Management of non-syndromic craniosynostoses in France in 2015: A national survey.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2018

Non-syndromic craniosynostosis treated by frontal orbital advancement: A case report.

The Medical journal of Malaysia
2019

Additional squamosal suture synostosis and segmented intracranial volume in patients with non-syndromic sagittal synostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

Non-Syndromic Craniosynostosis Mimicking Primary Pseudotumor Cerebri Syndrome.

Headache
2019

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.

Congenital anomalies
2018

Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis.

Human genome variation
2018

Image 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 radiology
2018

Clinical evaluation of non-syndromic scaphocephaly surgically corrected with the procedure of total vertex craniectomy.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2018

Non-syndromic craniosynostosis in children: Scoping review.

Medicina oral, patologia oral y cirugia bucal
2018

A Review Of Referral Patterns For Sagittal Synostosis In Ireland: 2008-2013.

Irish medical journal
2018

An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children.

International journal of pediatric otorhinolaryngology
2018

Modified Le Fort III osteotomy: A simple solution to severe midfacial hypoplasia.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2018

Volumetric lipoinjection of the fronto-orbital and temporal complex with adipose stem cells for the aesthetic restoration of sequelae of craniosynostosis.

Archives of plastic surgery
2018

Non-syndromic single-suture craniosynostosis in triplets.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2018

Reduced Intercarotid Artery Distance in Syndromic and Isolated Brachycephaly.

Pediatric neurology
2017

Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.

International journal of biological sciences
2018

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

European journal of human genetics : EJHG
2018

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

American journal of medical genetics. Part A
2017

Syndromic 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 neuroscience
2018

Length of synostosis and segmented intracranial volume correlate with age in patients with non-syndromic sagittal synostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2017

Growth curves for intracranial volume in normal Asian children fortify management of craniosynostosis.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2017

Determining 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 Surgery
2017

De 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 America
2017

Multidisciplinary care of craniosynostosis.

Journal of multidisciplinary healthcare
2017

Bone Fusion in Normal and Pathological Development is Constrained by the Network Architecture of the Human Skull.

Scientific reports
2017

The metopic-sagittal craniosynostosis-report of 35 operative cases.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2017

Management options of non-syndromic sagittal craniosynostosis.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2017

[Guide to clinical practice for the diagnosis, treatment and rehabilitation of non-syndromic craniosynostosis on 3 levels of care].

Cirugia y cirujanos
2016

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.

eLife
2016

[Non syndromic craniosynostosis].

Annales de chirurgie plastique et esthetique

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Low-cost beetle-wing fronto-orbital advancement using nonabsorbable suture fixation for non-syndromic trigonocephaly: A single center experience.
    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia· 2026· PMID 41724090mais citado
  2. Fibronectin 1 is required for suture patency and dysregulated across craniosynostosis models in the mouse.
    bioRxiv : the preprint server for biology· 2026· PMID 41822825mais citado
  3. 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
  4. Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.
    Eye (London, England)· 2026· PMID 41735680mais citado
  5. Incidence of Ocular Abnormalities in Metopic Craniosynostosis: Cranial Vault Reconstruction Versus Endoscopic Suturectomy.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association· 2026· PMID 41632637mais citado
  6. Concurrent posterior vault expansion and extradural Chiari decompression in syndromic and non-syndromic craniosynostosis: a case series.
    Childs Nerv Syst· 2026· PMID 41586824recente
  7. Partial intracranial volumes in metopic synostosis - pre- and postoperative comparisons with healthy controls.
    J Plast Surg Hand Surg· 2025· PMID 41408946recente
  8. Evaluation of long-term aesthetic outcomes of fronto-orbital advancement using a crossing-the-midline greenstick fracture technique in anterior synostotic plagiocephaly.
    Childs Nerv Syst· 2025· PMID 41258962recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:620139(Orphanet)
  2. MONDO:0850075(MONDO)
  3. GARD:22472(GARD (NIH))
  4. Busca completa no PubMed(PubMed)

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

Compêndio · Raras BR

Craniossinostose unifrontoesfenoidal não-sindrômica

ORPHA:620139 · MONDO:0850075
Prevalência
<1 / 1 000 000
CID-10
Q75.0 · Craniossinostose
CID-11
Início
Neonatal
Prevalência
0.0136 (Worldwide)
MedGen
UMLS
C5680399
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