Raras
Buscar doenças, sintomas, genes...
Craniossinostose e anomalias dentárias
ORPHA:284149CID-10 · Q87.0OMIM 614188DOENÇA RARA

A síndrome de Crouzon, acrocefalossindactilia tipo II ou disostose craniofacial foi descrita pela primeira vez em 1921 por Louis Crouzon e constitui uma das síndromes do grupo das acrocefalossindactilias. Esse grupo heterogêneo de síndromes caracteriza-se por uma fusão sutural prematura que ocorre isoladamente ou associada a outras anomalias.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Condição autossômica recessiva rara associada a mutações no gene IL11RA, caracterizada pela fusão prematura de suturas cranianas (craniossinostose) e diversas anomalias dentárias, como erupção atrasada. Pode apresentar braquicefalia, dolicocefalia, proptose e ausência de martelo.

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
0.0
Europe
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +10CID-10: Q87.0
🇧🇷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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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

😀
Face
12 sintomas
🦴
Ossos e articulações
10 sintomas
🦷
Dentes
4 sintomas
👁️
Olhos
1 sintomas
👂
Ouvidos
1 sintomas
🧠
Neurológico
1 sintomas

+ 20 sintomas em outras categorias

Características mais comuns

100%prev.
Sinostose metópica
Frequência: 8/8
100%prev.
Craniossinostose coronal
Frequência: 8/8
100%prev.
Erupção atrasada dos dentes
Frequência: 4/4
100%prev.
Disostose craniofacial
Frequência: 2/2
100%prev.
Sindactilia dos dedos 2-3 do pé
Frequência: 3/3
100%prev.
Hálux valgo
Frequência: 4/4
49sintomas
Muito frequente (13)
Frequente (25)
Ocasional (10)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.

Sinostose metópicaMetopic synostosis
Frequência: 8/8100%
Craniossinostose coronalCoronal craniosynostosis
Frequência: 8/8100%
Erupção atrasada dos dentesDelayed eruption of teeth
Frequência: 4/4100%
Disostose craniofacialCraniofacial dysostosis
Frequência: 2/2100%
Sindactilia dos dedos 2-3 do pé2-3 toe syndactyly
Frequência: 3/3100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026195 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

IL11RAInterleukin-11 receptor subunit alphaDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Receptor for interleukin-11 (IL11). The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells (Probable). Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number Soluble form of IL11 receptor (sIL11RA) that acts as an agonist of IL11 a

LOCALIZAÇÃO

MembraneSecreted

VIAS BIOLÓGICAS (1)
IL-6-type cytokine receptor ligand interactions
MECANISMO DE DOENÇA

Craniosynostosis and dental anomalies

A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
80.6 TPM
Cervix Ectocervix
74.6 TPM
Tireoide
67.1 TPM
Cólon sigmoide
64.2 TPM
Útero
62.3 TPM
OUTRAS DOENÇAS (1)
craniosynostosis and dental anomalies
HGNC:5967UniProt:Q14626

Variantes genéticas (ClinVar)

112 variantes patogênicas registradas no ClinVar.

🧬 IL11RA: GRCh38/hg38 9p24.3-q21.13(chr9:208455-72054336)x3 ()
🧬 IL11RA: GRCh38/hg38 9p24.3-13.1(chr9:208455-38787483)x3 ()
🧬 IL11RA: NM_001142784.3(IL11RA):c.799G>A (p.Ala267Thr) ()
🧬 IL11RA: NM_001142784.3(IL11RA):c.838A>G (p.Ile280Val) ()
🧬 IL11RA: NM_001142784.3(IL11RA):c.806C>T (p.Ser269Phe) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Craniossinostose e anomalias dentárias

Centros de Referência SUS

24 centros habilitados pelo SUS para Craniossinostose e anomalias dentárias

Centros para Craniossinostose e anomalias dentárias

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Fixel-Based Analysis of Pretreatment MRI Identifies White Matter Abnormalities in Pediatric Anti-NMDAR Encephalitis.

Journal of child neurology2026 Mar 25

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disorder in which conventional MRI often appears normal, leading to clinical-radiologic dissociation and hindering early diagnosis and monitoring. We retrospectively studied five pediatric patients with anti-NMDAR encephalitis and compared their pretreatment diffusion MRI to age- and sex-matched controls. Using fixel-based analysis (FBA), we quantified tract-specific white matter abnormalities at the individual level. All patients showed significantly reduced fiber density and cross-section, with patterns ranging from focal to widespread involvement. In two patients, FBA abnormalities corresponded to seizure lateralization on EEG despite normal MRI, emphasizing FBA's added value in detecting seizure-concordant injury. One patient, exhibiting the highest disease burden and marked CSF pleocytosis, demonstrated extensive white matter tract disruption. These findings indicate that FBA derived from pretreatment MRI can identify clinically significant white matter injury at disease onset in pediatric anti-NMDAR encephalitis. Future large-scale studies should explore its potential as an individualized biomarker, which may offer diagnostic and prognostic value beyond conventional imaging.

#2

Registries and surveillance models used to screen neonates for congenital anomalies in LMIC settings: a scoping review.

BMJ public health2026

To map and characterise congenital anomalies (CAs) registries and surveillance systems implemented in low- and middle-income countries (LMICs), and to examine their reported effectiveness, challenges and potential for replication. Scoping review conducted in accordance with Joanna Briggs Institute methodology and reported using Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines. PubMed, Epistemonikos, Global Index Medicus, EMBASE, PakMediNet, CINAHL (EBSCO), and Google Scholar were searched from database inception to April 2025. Studies describing registries, surveillance systems or screening programmes for externally visible CAs in neonates or stillbirths implemented in LMIC settings were included. Data were extracted on publication characteristics, registry design, surveillance methods, screening personnel, diagnostic approaches and anomaly types. Findings were synthesised descriptively and mapped across WHO regions. Of 12 328 records identified, 39 studies met the inclusion criteria. Most studies were hospital-based (79%) and regional in scope (74%). Prospective surveillance was used in 79% of studies, with physical examination as the primary screening method. Doctors conducted screening in 41% of studies, while 13% employed mixed cadres including nurses, midwives and health workers. Nine sustained national or subnational registries and two multinational surveillance networks were identified. Neurological, musculoskeletal and cardiovascular anomalies were most frequently reported. CAs surveillance in LMICs is predominantly hospital-based, with limited community-level coverage. Sustainable registries demonstrate feasibility when integrated into existing health systems, supported by trained frontline workers and focused on pragmatic datasets. Future efforts should prioritise scalability, community integration and linkage to care pathways.

#3

Neuropsychological aspects of impulse control disorders in Parkinson's disease.

Frontiers in aging neuroscience2026

Impulse control disorders (ICDs), such as excessive gambling, compulsive sexual behavior, binge eating, compulsive shopping as well as punding, and the dopamine dysregulation syndrome, may arise as a debilitating neuropsychiatric complication in Parkinson's disease (PD). Although the pathophysiology is not fully understood, it likely involves mesolimbic dopaminergic overstimulation combined with disease-related vulnerabilities in reward, motivation, and inhibitory control networks. This narrative review summarizes evidence on the neuropsychological, affective, and behavioral traits associated with ICDs in PD, with a particular focus on epidemiology/clinical manifestations, neurobiological and pharmacological mechanisms, as well as prevention and management strategies. ICDs can affect up to 40% of PD patients and are strongly associated with dopamine agonist exposure, younger age of onset, premorbid personality traits, and neuropsychiatric comorbidities. Neuropsychological findings reveal abnormalities in several domains, including reflection impulsivity, temporal discounting, novelty seeking, risk processing, and inhibitory control, while mood disorders, sleep dysfunction, apathy, and anxiety further influence vulnerability and worsen behavioral dysregulation. Although general awareness for development of ICDs has been raised, they still represent a significant burden for patients and their family members and are a predictor of functional decline and lower quality of life. Management includes dopamine agonist withdrawal whenever possible, the cessation of fast acting dopaminergic agents and treatment of neuropsychiatric comorbidities. In selected cases, deep brain stimulation or continuous dopaminergic delivery should be considered, particularly in those experiencing persistent worsening of motor symptoms despite appropriate adjustment of dopaminergic medication.

#4

Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.

European heart journal. Case reports2026 Mar

Abnormal origin of a coronary artery is a rare congenital condition that can significantly affect clinical outcomes especially when associated with acute coronary syndromes. Among these, the presence of a single coronary artery trifurcating from the right coronary cusp into all major coronary branches is exceptionally rare and poorly represented in the literature. A 35-year-old man presented with an inferior ST-elevation myocardial infarction. Emergency angiography revealed a single coronary artery arising from the right coronary cusp. The culprit was the right coronary artery. It was effectively treated with intravascular-guided percutaneous coronary intervention, and the remaining coronaries demonstrated normal flow, as shown in subsequent imaging. The patient recovered uneventfully, rehabilitated without complications. He was discharged on guideline directed medical therapy. Although the anomalous coronary anatomy was not the direct cause of infarction, it introduced significant procedural challenges that could have delayed or compromised revascularization. Our case highlights the importance of recognizing and anticipating coronary anomalies in acute settings. Multimodality imaging and anatomical classification systems help provide timely diagnosis, procedural planning, and risk assessment from a long-term perspective.

#5

Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications.

Stem cell research &amp; therapy2026 Mar 25

Human induced pluripotent stem cells (hiPSCs) may acquire genomic alterations during reprogramming and culture, which poses significant risks for clinical applications. Current detection methods, such as karyotyping analysis, often fail to identify critical submicroscopic variations. This highlights an urgent need for comprehensive genomic surveillance strategies. Three human iPSC lines were continually cultured in vitro for 50 passages, with genome alterations evaluated every 10 passages. The evaluation methods included karyotyping to detect chromosomal abnormalities, optical genome mapping (OGM) to identify copy number variations (CNVs) and structural variants (SVs), whole-exome sequencing (WES) to detect coding mutations, and RNA sequencing (RNA-seq) to detect the changes of gene expression. We detected accumulating chromosomal abnormalities (e.g., trisomy 12), SVs, CNVs, and sequence mutations in three hiPSC lines during extended culture. OGM effectively identified SVs and CNVs below karyotyping resolution, particularly recurrent genome abnormalities such as gains on chr17q, chr12p and chr20q. WES revealed coding mutations, including germline short variants and newly acquired somatic mutations, some of which were associated with tumors or diseases, such as CDH1, BCOR. Transcriptional changes correlated with genomic alterations, including dysregulation of oncogenes such as BCL2L1, KRAS and MDM2. Results demonstrate that each method had unique detection capabilities and limitations, and only integrative approaches can comprehensively identify genomic abnormalities. This study established a comprehensive strategy for evaluating the genomic alterations of hiPSCs by integrating karyotyping, OGM, WES, and RNA-seq. This comprehensive strategy can be applied to scenarios such as hiPSC clone screening, establishment of cell bank passages, and quality control of hiPSC-derived products. It provides a reliable genetic stability evaluation protocol to support the safe clinical application of hiPSC-related products.

📚 EuropePMCmostrando 198

2026

Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation.

Nephrology (Carlton, Vic.)
2026

Fixel-Based Analysis of Pretreatment MRI Identifies White Matter Abnormalities in Pediatric Anti-NMDAR Encephalitis.

Journal of child neurology
2026

[Optimisation of psychopharmacological treatment strategies by using therapeutic drug monitoring].

Therapeutische Umschau. Revue therapeutique
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Leprosy in Pregnancy: A Systematic Review of Maternal Characteristics, Complications, and Neonatal Outcomes.

International journal of women's health
2026

Machine Learning-Based Diagnostic Models for Early Gastric Cancer Using Clinical Laboratory Indicators.

International journal of general medicine
2026

Registries and surveillance models used to screen neonates for congenital anomalies in LMIC settings: a scoping review.

BMJ public health
2026

SARS-CoV-2 spike S1-mediated HIF-2α activation in retinal endothelial cells suggests a mechanism contributing to post-COVID endothelial dysfunction.

Frontiers in immunology
2026

Severe Fetal Anaemia Secondary to Fetomaternal Haemorrhage: A Case Report Exploring Aetiologies and Diagnostics.

Cureus
2026

Neuropsychological aspects of impulse control disorders in Parkinson's disease.

Frontiers in aging neuroscience
2026

Difference in Respiratory Function Between GOLD Stage 1 and Preserved Ratio Impaired Spirometry as Assessed by Impulse Oscillometry and Spirometry.

International journal of chronic obstructive pulmonary disease
2026

A Case of Solar Maculopathy Secondary to Reflected Sunlight During Garden Tiling.

Cureus
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Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence.

Molecular syndromology
2026

Bilateral Optic Disc Edema Secondary to Severe Vitamin A Deficiency: A Rare Cause of Acute Vision Loss.

Case reports in ophthalmology
2025

A RARE CASE OF DISCORDANT ANOMALY IN A DICHORIONIC DIAMNIOTIC TWIN PREGNANCY: TESSIER CLEFT WITH SEVERE HYDROCEPHALUS IN A LOW RESOURCE SETTING.

Annals of Ibadan postgraduate medicine
2026

Quality of life in patients with craniofacial anomalies: personal experience and review of literature.

Medicine and pharmacy reports
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Clinical studies on the effect of type 1 diabetes on oral health in children and adolescents aged 6-17 years. A literature review.

Medicine and pharmacy reports
2026

Prenatally Diagnosed Proximal Femoral Focal Deficiency: A Report of Two Cases.

International medical case reports journal
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From Sinus to Fistula: The Hidden Cost of Repeated Incision and Drainage in Paediatric Branchial Cleft Anomalies, a Case Series.

International medical case reports journal
2026

Calcified frontal neurocysticercosis presenting with acute psychosis in a non-endemic context: a case report.

Frontiers in psychiatry
2026

Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.

European heart journal. Case reports
2026

Utility of Novel Lipid Parameters for Risk Stratification in Patients with Diabetes and STEMI-from a Prospective Study.

Vascular health and risk management
2026

Predicting adverse outcomes after cardiac surgery and structural interventions: the role of right ventricular function.

Future cardiology
2026

A Case of Restrictive Dermopathy With Atypical Cardiac Anomalies and a Novel ZMPSTE24 Variant.

American journal of medical genetics. Part A
2026

Successful palliation and Fontan completion in a patient with double outlet right ventricle and intact ventricular septum.

Cardiology in the young
2026

Metabolic syndrome and serum uric acid level in children and adolescents with hypertension.

Journal of hypertension
2026

Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications.

Stem cell research &amp; therapy
2026

A novel MMP13 frameshift variant causes short stature via enhanced MMP13-HSPA5 interaction and activated endoplasmic reticulum stress.

Clinical and translational medicine
2026

The diagnostic value of ultrasound viscoelastic imaging for biliary and vascular complications after liver transplantation: a single-center retrospective study.

BMC gastroenterology
2026

Identification of common genetic and molecular signatures in migraine and comorbid conditions.

The journal of headache and pain
2026

Valproic acid for the management of agitation in neurosurgical intensive care unit patients.

Neurocritical care
2026

EBV-associated histological transformation of marginal zone lymphomas: two case reports and a literature review.

Virchows Archiv : an international journal of pathology
2026

Monitoring the Progression of Pre-Ataxic Gait in SCA2 with Inertial Sensors Over Four Years.

Cerebellum (London, England)
2026

Different effect of aldosterone on corrected HCO3- across primary aldosteronism subtypes.

Hypertension research : official journal of the Japanese Society of Hypertension
2026

Predictive value of high-density lipoprotein cholesterol and the cardio-ankle vascular index on cardiovascular outcomes in subjects with cardiovascular risks: the COUPLING Study.

Hypertension research : official journal of the Japanese Society of Hypertension
2026

IGFBP3 repression driven by inflammation links air pollution to placental and developmental defects.

EMBO molecular medicine
2026

Key natural influences on groundwater storage changes in Central and Southern Arizona.

Scientific reports
2026

Integrated transcriptomics and proteomics analysis reveal potential target in pediatric primary restrictive cardiomyopathy.

Pediatric research
2026

Exploratory characterization of gut microbiota and cognitive profiles in adolescents with subthreshold depression: a shotgun metagenomics sequencing study.

Npj mental health research
2026

Deep learning-based quantitative CT assessment of interstitial lung abnormalities: prognostic risk thresholds in a health screening population.

Scientific reports
2026

Limitations of serial cloning in mammals.

Nature communications
2026

EXPRESS: Feline plasma cell pododermatitis with concurrent glomerular disease: a case series of 25 cats.

Journal of feline medicine and surgery
2026

Accelerated 3D MRI for ARIA monitoring in Alzheimer's disease.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Dyslipidemia and therapies after heart transplantation: Current evidence and future directions.

Journal of clinical lipidology
2026

Bedside contrast-enhanced ultrasound: Clinical applications for internal medicine.

European journal of internal medicine
2026

Early cranial ultrasonic evaluation of white matter development and later neurodevelopmental outcomes in extremely premature infants.

Journal of the Formosan Medical Association = Taiwan yi zhi
2026

A new system for custom helical mandibular distraction: a bench study on anatomical models.

International journal of oral and maxillofacial surgery
2026

[Research progress on the involvement of glucose transporter-mediated cerebral glucose metabolism in the regulation of sepsis-associated encephalopathy].

Zhonghua wei zhong bing ji jiu yi xue
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[Related factors and characteristics of common disease multimorbidity among primary and secondary school students in Hunan Province].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi
2026

Effects of ACE inhibitor and afterload reduction in single ventricles following bidirectional Glenn.

Open heart
2026

Timing of high-dose folic acid supplementation in the periconceptional period among women taking antiseizure medications and risk of major congenital anomalies: a target trial emulation.

Journal of neurology, neurosurgery, and psychiatry
2026

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Progress in neuro-psychopharmacology &amp; biological psychiatry
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Pediatric neurology
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Early human development
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Neural networks : the official journal of the International Neural Network Society
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The Science of the total environment
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Neurobiology of aging
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Interdisciplinary cardiovascular and thoracic surgery
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Proceedings of the National Academy of Sciences of the United States of America
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Proceedings of the National Academy of Sciences of the United States of America
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"Stones from Other Hills can Polish Jade": Zero-shot Anomaly Synthesis via Cross-domain Anomaly Injection.

IEEE transactions on image processing : a publication of the IEEE Signal Processing Society
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Cerebral cortex (New York, N.Y. : 1991)
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La Radiologia medica
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Perivascular fluid clearance links choroid plexus changes to cognitive performance in cerebral small vessel disease.

Brain informatics
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Combined prognostic impact of complex karyotype and KIT mutations refines risk stratification in t(8;21) acute myeloid leukemia.

Cancer
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A new tooth size determination method based on the maxillary canine using facial proportions as a reference: the Abay ratio - a retrospective study.

The Saudi dental journal
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Imaging-based anatomical study of torus mandibularis: morphological features identified by computed tomography and their correlation with panoramic radiographic appearances.

Oral radiology
2026

Diagnostic performance of triplanar real-time chest magnetic resonance imaging in preschool children - comparison with dedicated lung magnetic resonance imaging.

Pediatric radiology
2026

Assessing the feasibility of neonatal chest MRI for bronchopulmonary dysplasia using a standard 1.5-Tesla scanner.

European radiology
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The diagnostic value of magnetic resonance defecography in differentiating evacuation disorders among patients with manometric dyssynergia.

Abdominal radiology (New York)
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VF Arrest at Rest in a Teenager With Anomalous Origin of Coronaries and DSG2 Variant.

JACC. Case reports
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Standardized 2D Ultrasound Sequences for Fetal Cardiac Screening: A Platform for AI Integration.

Echocardiography (Mount Kisco, N.Y.)
2026

Empirical no-go principles for rigid three-point water models: A physically guided manifold of optimality.

The Journal of chemical physics
2026

Clinical characteristics and surgical outcomes of Rasmussen encephalitis: A retrospective dual-center cohort study.

Epilepsia
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Trifurcation of the sciatic nerve. Short bifurcation of the common fibular nerve in the high gluteal region: a case study.

Folia morphologica
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Research Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis.

BioMed research international
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Impact of Cannabis and Cannabis Legalization on US Atrial Septal Defect Rates.

Journal of xenobiotics
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Rapid and Efficient GC-MS Method for the Multiresidue Analysis of Contaminants from Recycled Polyethylene and Polypropylene.

Journal of xenobiotics
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Paraneoplastic Hepatitis Associated with Relapsed Nodular Lymphocyte-Predominant Hodgkin Lymphoma.

Hematology reports
2026

Cochlear Implantation in Down Syndrome: Functional Outcomes, Challenges, and Management Strategies.

Audiology research
2026

Differentiating Atypical BPPV from Central Positional Vertigo: A Narrative Review.

NeuroSci
2026

Medical, Surgical, and Combined Approaches in Pediatric Hydatid Liver Disease: A Systematic Review.

Pediatric reports
2026

Retrospective Analysis of Morphological Anomalies in Fetuses from Spontaneous Abortions: A Clinical and Pathological Study.

Fetal and pediatric pathology
2026

Myocardial bridging: a practical guide for clinicians.

European heart journal
2026

Finding the Genetic Diagnosis for a Mother and Daughter With a Novel Phenotype of Hand and Foot Abnormalities and Severe Pectus Excavatum Previously Reported in Am J Med Genet Part A by Low K et al. (2013).

American journal of medical genetics. Part A
2026

The interaction between NPMc+ and Orai1 induces abnormal calcium influx to facilitate leukemogenesis.

The FEBS journal
2026

Hemodynamic Mechanisms in Venous Pulsatile Tinnitus: A 4D Flow MRI Analysis of Transverse-Sigmoid Sinus Abnormalities.

Journal of magnetic resonance imaging : JMRI
2026

Clinical and genetic basis of congenital gonadotropin deficiency.

Human reproduction open
2026

Simultaneous Natural Conception in a Rudimentary Horn and ICSI Pregnancy in a Unicornuate Uterus Managed by Fetocide with Successful Preterm Delivery: A Case Report.

International journal of women's health
2026

Diagnostic pitfalls in constrictive pericarditis coexisting with right ventricular outflow tract obstruction and coronary artery anomaly.

Journal of surgical case reports
2026

Gastric Bypass Presenting as Mixed Beriberi and Wernicke Encephalopathy.

Cureus
2026

Pericardial Cyst at the Left Cardiophrenic Angle Mimicking Localized Effusion: A Diagnostic Dilemma.

Cureus
2026

Effect of Lee Silverman Voice Treatment-BIG Intervention Versus Balance Training via Tele-rehabilitation on Balance and Functional Mobility Among Community-Dwelling Elderly: A Comparative Study.

Cureus
2026

Incomplete Kawasaki Disease Presenting With Coronary Artery Aneurysms in a 2.5-Month-Old Infant: A Case Report.

Cureus
2026

The First-Trimester Anomaly Scan: From Earlier Detection to Broader Clinical Impact.

BJOG : an international journal of obstetrics and gynaecology
2026

Vestibular functioning in people with Parkinson's disease.

International journal of audiology
2026

Complaints Involving Sonographers: What Three Decades of Cases From A Public New Zealand Database Can Teach Us.

Journal of medical radiation sciences
2026

Distinct brain volume abnormalities in clinical high-risk individuals: pre- and post-antipsychotic treatment.

Psychological medicine
2026

Analysis of mandibular trabecular bone by fractal analysis in children born with oral cleft.

BMC oral health
2026

Labyrinthine Abnormalities on MRI in Untreated Otosclerosis: Prevalence and Clinical Relevance.

The Laryngoscope
2026

Predictors of chronic kidney diseases and kidney failure in patients with CAKUT: a cohort study.

International urology and nephrology
2026

Comparative evaluation of multimodal large language models for diagnostic accuracy in pediatric electrocardiography: a prospective comparative diagnostic accuracy study.

European journal of pediatrics
2026

Development of metabolic syndrome by increasingly fructose-enriched water in Wistar rats.

Journal of molecular histology
2026

Pathophysiology and histological anomalies in testicular tissues of Calosoma olivieri exposed to heavy metals generated by pesticide industries.

Scientific reports
2026

Semaglutide restores metabolic and structural homeostasis along the gut-heart-metabolic axis in a cafeteria diet-induced obesity model.

Scientific reports
2026

A hybrid pipeline for carotid artery segmentation using YOLOv11n and contour models.

Scientific reports
2026

Loss of DIAPH3 accelerates glioma genesis in mice.

Cell death &amp; disease
2026

HNRNPH1 drives glioblastoma progression by regulating the splicing of cell cycle genes.

Cell death &amp; disease
2026

The amino acid transporter LAT1 coordinates proper motor function at the perinatal stage.

Cell death &amp; disease
2026

Unveiling of Placental-Fetal Heart Interplay: A Novel Etiologic and Therapeutic Insight-A Narrative Review.

Journal of pregnancy
2026

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.

The Journal of international medical research
2026

Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.

BMJ case reports
2026

ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.

Ophthalmic genetics
2026

Lingual haemangiosarcoma in a French Bulldog: atypical clinical presentation.

Australian veterinary journal
2026

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Congenital anomalies
2026

VACTERL Association in Screened Patients with Esophageal Atresia: A Retrospective Cohort Study.

Journal of pediatric surgery
2026

Nasopharyngeal mass containing B-cell small lymphocytic lymphoma in a human immunodeficiency virus-positive patient: A case report and review of the literature.

International journal of immunopathology and pharmacology
2026

Artificial Intelligence Applications in COVID-19-Associated Coagulopathy: Lessons Learned.

Seminars in thrombosis and hemostasis
2026

Chronic nonbacterial osteomyelitis: current perspectives in pediatric practice.

The Turkish journal of pediatrics
2026

Non-ketotic hyperglycaemic hemichorea as the first manifestation of undiagnosed diabetes mellitus in an elderly patient.

Endocrinology, diabetes &amp; metabolism case reports
2026

Abnormality detection in soft tissues: Multivariate outlier framework based on multi mechanical characterization using indentation.

Medical engineering &amp; physics
2026

Detecting early signs of patient deterioration at home using wearable sensors: a personalized anomaly detection approach.

Biomedical physics &amp; engineering express
2026

Age, sex, smoking-specific prevalence and progression in interstitial lung abnormality: patient-level meta-analysis.

Annals of the American Thoracic Society
2026

Dynamic Cytogenetic Evolution in Multiple Myeloma: Prognostic Implications from Diagnosis to First Relapse.

The oncologist
2026

Hemorrhagic presentation of a DICER-1-mutant primary intracranial sarcoma with negative MR spectroscopy: illustrative case.

Journal of neurosurgery. Case lessons
2026

Perineural spread of colorectal carcinoma into the sciatic nerve with positive circulating tumor DNA test: illustrative case.

Journal of neurosurgery. Case lessons
2026

Time lag between functional and structural lymphatic changes after lymphadenectomy: Insights from ICG lymphography and lymphatic ultrasound.

PloS one
2026

A Magnetic Anomaly Inversion Method Integrating Convolutional Block Attention Module and Physical Consistency Constraints.

Journal of visualized experiments : JoVE
2026

Efficacy of Lithium Carbonate Combined with Olanzapine, Risperidone, or Quetiapine in Bipolar Disorder Treatment and Effects on Glycolipid Metabolism.

Journal of visualized experiments : JoVE
2026

N6-methyladenosine-modified miR-873 promotes receptor-interacting protein kinase 3-mediated necroptosis after intracerebral hemorrhage in mice and HT22 cells.

Neuroreport
2026

Pseudo Anomalies and Hard Sample Mining for Ventricular Arrhythmia Anomaly Detection.

IEEE journal of biomedical and health informatics
2026

Environmental and Lifestyle Exposures and Male Factor Subfertility Proportion Among Infertile Couples: A Clinic-Based Multicenter Cross-Sectional Analysis from Indian Male Factor Subfertility Evaluation (IM-FaST) Study.

Environmental science and pollution research international
2026

OPM-based fetal magnetocardiography: fetal cardiac time intervals in healthy pregnancies compared to postnatal ECGs.

Archives of gynecology and obstetrics
2026

Silent complexity: a rare combination of polysplenia, cleft palate, retroaortic renal vein, and dorsal pancreatic agenesis.

Pediatric radiology
2026

Navigating the spectrum: a comprehensive approach to fetal lung abnormalities in ultrasound and magnetic resonance imaging.

Pediatric radiology
2026

Behavioural and physiological impacts of varying doses of methotrexate on Drosophila melanogaster.

Naunyn-Schmiedeberg's archives of pharmacology
2026

Update on Cerebral/Cortical Visual Impairment (CVI) in Children.

International ophthalmology clinics
2026

Using Optical Coherence Tomography in Pediatric Neuro-ophthalmology.

International ophthalmology clinics
2026

Congenital Optic Nerve Anomalies and Associated Systemic Conditions.

International ophthalmology clinics
2026

Tailored Charles' Procedure and Vascularized Lymph Node Transfer for Advanced Stage Klippel-Trenaunay Syndrome.

Acta chirurgica Belgica
2026

Vestibular dysfunction and infratentorial MRI abnormalities in multiple sclerosis.

Irish medical journal
2026

The endocrine impact of immunotherapy: audit and future service implications.

Irish medical journal
2026

Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

American journal of physiology. Renal physiology
2026

A Triboelectric Nanogenerator-Based Electromechanical Synchronized Sensing Probe for Simultaneous Detection of Cardiac Physiological Activities.

ACS sensors
2026

First Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

REM Sleep Abnormalities in Children With Autism Spectrum Disorder.

Autism research : official journal of the International Society for Autism Research
2026

Case Report: Successful natural conception and delivery in a primary cancer survivor involving the reproductive, respiratory, and endocrine systems auth.

Frontiers in oncology
2025

Central Ray Synpolydactyly with Bilateral Medial Foot Polydactyly and Hydrocephalus: A Case Report.

Plastic and reconstructive surgery. Global open
2026

Associations of triglyceride-glucose-body mass Index and C-reactive protein with isolated nocturnal hypertension: evidence from a retrospective observational study.

Frontiers in cardiovascular medicine
2026

Impact on mitral regurgitation in patients with AVB undergoing permanent pacemaker implantation: left bundle branch pacing vs. right ventricular septum pacing.

Frontiers in cardiovascular medicine
2026

A Survey on the Treatment of Extra-Articular Malunions of the Distal Radius.

Journal of wrist surgery
2026

Peripheral Nerve Ultrasound Findings in Leprosy: A Scoping Review of Echogenicity, Cross-Sectional Area, and Vascularization Across 15 Studies.

Clinical, cosmetic and investigational dermatology
2026

Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.

Ophthalmology science
2026

Unexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.

Frontiers in surgery
2026

The clinical, serological and myopathological features of a cohort of Chinese patients with inclusion body myositis: a single center analysis.

Frontiers in immunology
2026

Ischemic Stroke as the Initial Presentation of Advanced Pancreatic Adenocarcinoma: A Case of Marantic Endocarditis.

Cureus
2026

Gastric Mucosal Biopsy Revealing Immunoglobulin G4 (IgG4)-Related Disease With Subtle Macroscopic Changes: A Case Report.

Cureus
2026

Brown Tumor in a Patient With End-Stage Renal Disease: A Case Report of Secondary Hyperparathyroidism Complications.

Cureus
2026

Perforated Meckel's Diverticulum With Dual Gastric and Pancreatic Heterotopia: A Pediatric Case Report.

Cureus
2026

Complete Diphallia With Associated Epispadias: A Rare Congenital Anomaly Diagnosed in Adulthood.

Cureus
2026

Unusual Case of Extensor Indicis Attachment: Cadaveric Observation and Clinical Relevance.

Cureus
2026

Novel Compound Heterozygous CFAP53 Variants in a Fetus With Situs Inversus Totalis: A Case Report.

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The Hidden Face of Lyme Disease: Neuroinfection With Cranial Nerve Involvement.

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2026

Left bundle branch area pacing from the functional right ventricle in Ebstein's anomaly with atrioventricular block.

HeartRhythm case reports
2026

Fetal echocardiography combined with serum biomarkers for early diagnosis of congenital heart disease and birth defect risk prediction.

American journal of translational research
2026

Trousseau's syndrome with cerebral infarction as the first manifestation.

American journal of translational research
2026

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American journal of translational research
2026

Altered EEG microstate associated with anxiety and somatization symptoms in major depressive disorder.

Frontiers in psychiatry
2026

An exploratory study of altered regional homogeneity in Parkinson's disease with depression.

Frontiers in psychiatry
2025

Zero Fluoroscopy Ablation of Arrhythmias in Patients With Congenital Heart Disease.

Journal of arrhythmia
2026

Pressure cycling technology-assisted data-independent acquisition proteomics reveals molecular alterations and potential therapeutic targets in minor glomerular abnormalities.

Precision clinical medicine
2025

Using Embodied Artificial Intelligence Agents to Automate Biorisk Management Tasks in High-Containment Laboratories.

Applied biosafety : journal of the American Biological Safety Association
2026

Clinical characteristics and long-term treatment outcomes of patients with new-onset epileptic seizures associated with COVID-19 infection.

Frontiers in neurology
2026

Arterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.

Radiology case reports
2026

Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.

Radiology case reports
2026

Postoperative acute ultra-early fish mouthing of a Surpass Evolve flow diverter leading to ischemic complication.

Radiology case reports
2026

Incidental Detection of Glutamate Formiminotransferase Deficiency Through Newborn Screening in a Clinically Asymptomatic Infant: Molecular Findings and Counseling Considerations.

Cureus
2026

Interconnected roles of astrocytes and the blood-brain barrier in Parkinson's disease: pathological evidence, mechanistic insights, and knowledge gaps.

Frontiers in aging neuroscience
2026

Diagnostic odyssey of a German shepherd dog with disseminated Penicillium labradoris infection: a case report.

Frontiers in veterinary science
2026

Increased contributions of climate-driven wildfires to nitrogen deposition in the United States.

Communications earth &amp; environment
2026

Complex interactions of gut-derived short-chain fatty acids in hyperuricemia and gout pathophysiology.

Frontiers in microbiology
2026

Machine Learning Models Reveal New Risk Factors for Sub-/Supra-Therapeutic Concentrations of Sirolimus in Children with Vascular Anomalies.

Drug design, development and therapy
2026

Midline congenital upper lip sinus: a rare clinical case with analytical review of diagnostic and therapy strategies.

Frontiers in pediatrics
2026

Case Report: Genetic testing reveals Wilson disease with familial hypertriglyceridemia in a 12-year-old boy.

Frontiers in pediatrics
2026

Case Report: Pediatric chylous ascites beyond congenital malformations-infectious causes and nutritional management with a literature review.

Frontiers in pediatrics
2026

APOE3 astrocytes can rescue lipid abnormalities and dystrophic neurites of APOE4 human neurons.

PNAS nexus
2026

Metabolic pathways and chemotherapy resistance in acute myeloid leukemia (AML): Insights into Enoyl-CoA hydratase domain-containing protein 3 (ECHDC3) as a potential therapeutic target.

Cancer pathogenesis and therapy
2026

Early Binding of Anti-Amyloid Antibodies to CAA Drives Complement Activation, Inflammation and ARIA in Mice.

bioRxiv : the preprint server for biology
2026

Preclinical validation of AAV9-TECPR2 gene therapy in a novel knock-in model of TECPR2-related disorder.

bioRxiv : the preprint server for biology
2026

Suppression of early pro-inflammatory senescent signature post-radiotherapy mitigates chronic bone damage.

bioRxiv : the preprint server for biology
2026

Association of Ambulatory Arterial Pressure Index with Circadian Blood Pressure Patterns in Patients with Primary Hypertension and Coronary Artery Disease.

International journal of general medicine
2026

TEM-based Study of the Phenotype of Astrocytes Differentiated from Induced Pluripotent Stem Cells from a Healthy Donor and a Patient with Parkinson's Disease.

Sovremennye tekhnologii v meditsine
2026

Managing metabolic risks in coronary artery disease: A scoping review of recent clinical and therapeutic evidence.

Journal of diabetes and metabolic disorders
2025

Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.

Molecular vision
2026

Global Perspectives in Plastic Surgery: View of Plastic Surgeons From Vietnam.

Plastic and reconstructive surgery. Global open
2026

Global Perspectives in Plastic Surgery: View of Plastic Surgeons From Peru.

Plastic and reconstructive surgery. Global open

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Fixel-Based Analysis of Pretreatment MRI Identifies White Matter Abnormalities in Pediatric Anti-NMDAR Encephalitis.
    Journal of child neurology· 2026· PMID 41878763mais citado
  2. Registries and surveillance models used to screen neonates for congenital anomalies in LMIC settings: a scoping review.
    BMJ public health· 2026· PMID 41878580mais citado
  3. Neuropsychological aspects of impulse control disorders in Parkinson's disease.
    Frontiers in aging neuroscience· 2026· PMID 41878312mais citado
  4. Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.
    European heart journal. Case reports· 2026· PMID 41877722mais citado
  5. Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications.
    Stem cell research &amp; therapy· 2026· PMID 41877289mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:284149(Orphanet)
  2. OMIM OMIM:614188(OMIM)
  3. MONDO:0013615(MONDO)
  4. Variantes catalogadas(ClinVar)
  5. Q55784239(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

Craniossinostose e anomalias dentárias
Compêndio · Raras BR

Craniossinostose e anomalias dentárias

ORPHA:284149 · MONDO:0013615
Prevalência
<1 / 1 000 000
Herança
Autosomal recessive
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Infancy, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C3280073
Wikidata
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