Microcefalia proeminente da glabela B O hipogenitalismo B é uma síndrome muito rara descrita em dois irmãos e caracterizada por início pré-natal de deficiência de crescimento, microcefalia, genitália hipoplásica e início de convulsões no nascimento.
Introdução
O que você precisa saber de cara
Microcefalia proeminente da glabela B O hipogenitalismo B é uma síndrome muito rara descrita em dois irmãos e caracterizada por início pré-natal de deficiência de crescimento, microcefalia, genitália hipoplásica e início de convulsões no nascimento.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de glabela proeminente-microcefalia-hipogenitalismo
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
Post-Streptococcal glomerulonephritis (PSGN) most commonly follows streptococcal infections and presents with classic features such as hematuria, proteinuria, hypertension, and transient renal dysfunction. While renal-limited disease is typical, extrarenal manifestations-particularly serosal involvement-are exceptionally rare in children. We report a rare case of an adolescent who presented with nephritic syndrome marked by hypertension, gross hematuria, proteinuria, and notably, concurrent pleural and pericardial effusions. Laboratory evaluation revealed low serum complement levels (C3 and C4), consistent with immune complex-mediated glomerulonephritis. Extensive infectious and autoimmune workups were unremarkable. The patient was managed conservatively with antihypertensives and diuretics, with complete resolution of symptoms and normalization of renal function and complement levels within four weeks. To our knowledge, serosal involvement (pleural and pericardial effusions) at initial presentation in pediatric PSGN remains extremely rare, with very few documented cases in the literature. This report contributes valuable clinical insight, emphasizing that PSGN can occasionally mimic systemic inflammatory or autoimmune conditions. Early identification and conservative management can prevent overtreatment and improve outcomes. This case underscores an unusual presentation of PSGN with serosal involvement-a manifestation reported only sporadically in literature. Recognition of such rare systemic features is crucial to avoid diagnostic delays or unnecessary immunosuppression. Supportive care alone led to favorable outcomes, reinforcing the self-limited nature of PSGN even in atypical presentations. It serves as a valuable reminder that atypical PSGN can present with multi-system inflammation, and a precise diagnostic approach integrating serology and clinical course is essential to avoid unnecessary intervention.
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
Biallelic loss-of-function variants in FBXO31 cause autosomal-recessive intellectual disability. A recurrent de novo variant, c.1000G>A(p.Asp334Asn), has been described in association with an autosomal-dominant phenotype. To refine this phenotype and its clinical implications, we re-evaluated three published cases and ascertained four additional probands via advocacy networks, GeneMatcher, and clinician referral. Phenotyping included neurologic, behavioral, and dysmorphology assessment. All seven individuals carried the recurrent de novo FBXO31 p.Asp334Asn variant. A core neurodevelopmental profile was observed and included cerebral palsy (mixed hypotonia, spasticity, and dystonia), global developmental delay/intellectual disability, and speech impairment. Neuropsychiatric features were sometimes prominent and included attention-deficit/hyperactivity disorder, anxiety, stereotypies, autistic features, and behavioral dysregulation. Neuroimaging often showed a hypoplastic corpus callosum and posterior-predominant white-matter changes. In one individual, gray matter heterotopias were also observed. A subtle but consistent facial gestalt was noted. Recurrent FBXO31 p.Asp334Asn variants lead to a recognizable neurodevelopmental syndrome. Based on our findings, we recommend including FBXO31 in diagnostic algorithms for cerebral palsy and neurodevelopmental disorders. We propose the descriptive term "autosomal dominant FBXO31-associated neurodevelopmental disorder," and-consistent with the validating laboratory and with support from the FBXO31 Foundation-propose the eponym "Kruer syndrome."
Clinical profile and treatment outcomes of patients with chronic presentations of autoimmune encephalitis: expanding the spectrum.
The spectrum of autoimmune encephalitis (AIE) is evolving due to heterogeneity of clinical syndromes associated with autoantibodies. While majority of patients present within 3 months, little is known about chronic presentations of AIE. This study aims to characterise the neurobehavioural profile and assess the long-term outcomes of patients with chronic presentations of AIE. Patients with serum or cerebrospinal fluid AIE antibody positivity were included in the study. We reviewed their clinical, cognitive, imaging and treatment characteristics as well as their long-term outcomes. Addenbrooke's Cognitive Examination-III and Clinical Dementia Rating score were used to evaluate global cognition and the severity of dementia, respectively. Of 306 patients diagnosed with dementia in a cognitive disorders' clinic, 28 had chronic presentations of AIE. The mean age of 28 patients was 55 years (range: 50-60), and mean duration of illness was 12 months (range: 3-84). Of the 28 patients, 9 (32%) were positive for leucine-rich glioma inactivated 1 antibody, 7 (25%) anti-thyroid peroxidase, 5 (18%) N-Methyl D-Aspartate receptor, 5 (18%) glutamic acid decarboxylase 65 and 2 (7%) had contactin-associated protein antibodies. Memory, language and behavioural disturbances with prominent neuropsychiatric symptoms were characteristic clinical manifestations. The course was chronic progressive, relapsing and rapidly progressive in 18 (64%), 8 (28%) and 2 (7%) patients, respectively. On immunomodulator therapy, the majority (21/28) improved, while 7/28 patients remained unchanged or experienced an exacerbation of symptoms. Chronic presentations of AIE are less known, and often misdiagnosed due to insidious progressive course and resemble degenerative dementias. A high index of suspicion in patients with chronic atypical cognitive syndromes and a low threshold for antibody testing will allow for prompt diagnosis, appropriate immunotherapy and improvement in clinical outcome.
Pediatric-related post-COVID condition (long COVID) research and its foundational influences: a bibliometric analysis (2020-2025).
The COVID-19 pandemic significantly influenced healthcare systems worldwide. The long-term consequences of the infection in children, the phenomenon of post-COVID-19 syndrome, have been attracting increasing attention of the scientific community. The present study is a bibliometric analysis of publications addressing post-COVID (long COVID) complications in pediatric population over the period 2020-2025. The analysis covers 1,292 records retrieved from Scopus and Web of Science (search date: June 2025). Records were retrieved using post-COVID condition/long COVID terminology combined with pediatric-related keywords; therefore, the corpus includes pediatric-focused studies as well as influential general PCC publications indexed with pediatric terms and frequently cited in pediatric research. The search strategy combined post-COVID condition/long COVID terminology with pediatric terms (child/infant/adolescent), applying filters for English language, publication years 2020-2025, and document type (articles and reviews). Data were merged and analyzed in R using bibliometrix/Biblioshiny to describe productivity, collaboration, citations, and thematic structure. The retrieved corpus included 1,292 publications from 84 countries/regions. The United States led productivity with 270 publications (20.9%), followed by the United Kingdom (114; 8.8%) and China (90; 7.0%). The most frequent author keywords included "COVID-19" (n = 900) and "long COVID" (n = 818). Highly cited items predominantly consisted of general or mixed-age PCC frameworks, indicating that foundational long COVID literature substantially shapes citation patterns within pediatric-tagged publications. Thematic mapping showed symptom-focused clusters as dominant, while MIS-C and cognitive impairment were less prominent in author-keyword frequency and thematic clustering within the retrieved dataset. The findings describe the pediatric-term-indexed PCC research landscape and highlight substantial gaps in pediatric-specific evidence, definitions, and longitudinal data.
Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
Psoriasis is a common immune-mediated skin disease influenced by environmental and dietary factors. In traditional Chinese medicine (TCM), endogenous dampness-heat syndrome, often induced by diets rich in stimulating foods, is considered a trigger that aggravates psoriasis. However, the underlying mechanisms remain unclear. This study investigated the gut microbiota and metabolic alterations associated with endogenous dampness-heat syndrome in psoriasis. BALB/c mice were fed a stimulating food diet to establish a model of endogenous dampness-heat syndrome, followed by the induction of psoriasis-like dermatitis by applying imiquimod. Mice on a standard diet served as disease controls and healthy controls. Characteristics of the gut microbiota were analyzed by 16S rDNA sequencing. UPLC-MS/MS was used to detect metabolic changes in the feces and serum of mice and to quantify multiple bile acids. Lipid accumulation and bile acid content in the liver were evaluated by Oil Red O staining and total bile acid assays. Endogenous dampness-heat modeling aggravated psoriasis-like symptoms in mice. This was accompanied by marked dysbiosis of the gut microbiota, characterized by reduced abundance of Lactobacillus and Bacteroides. Serum and fecal metabolomics revealed prominent alterations in bile acid metabolism, closely associated with the reduction in Lactobacillus. Targeted quantification confirmed elevated deoxycholic acid in serum, together with increased total bile acids and lipid deposition in the liver. The expression of FXR in bile acid pathway in the liver was decreased, while the expression of CYP7A1 was increased. The exacerbation of skin lesions and hepatic lipid deposition in endogenous dampness-heat pattern psoriasis may be associated with bile acid imbalance and reduced Lactobacillus levels.
Publicações recentes
Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience.
Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia.
Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report.
Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?
📚 EuropePMCmostrando 199
Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
Frontiers in pediatricsGrowth Guidance Surgery: Factors Associated With Complications.
SpineExpanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
Clinical geneticsSchwannosis with mature collagen in the spinal cord of a calf.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncTriple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.
Frontiers in ophthalmologyClinical profile and treatment outcomes of patients with chronic presentations of autoimmune encephalitis: expanding the spectrum.
BMJ neurology openBeyond the basics: exploring non-conventional treatment for fatigue in post-acute COVID-19 syndrome.
La Tunisie medicalePediatric-related post-COVID condition (long COVID) research and its foundational influences: a bibliometric analysis (2020-2025).
Frontiers in pediatricsDiet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
Frontiers in cellular and infection microbiologySomato-Psychic Pathway: a universal developmental trajectory linking somatic structural-functional integrity, autonomic regulation, and the emergence of mind.
Frontiers in integrative neuroscienceNetwork toxicology and single-cell analysis reveal key gene-mediated bisphenol a interference with granulosa cell function in polycystic ovary syndrome.
Frontiers in pharmacologyEosinophilic granulomatosis with polyangiitis coexisting with multiple myeloma: independent entities or coexistence? A case report.
Frontiers in immunologyMeasurement of Tau Protein and Aβ Amyloid Plaques in Postmortem Human Brains of Down Syndrome and Alzheimer's Disease by Using [125I]IPPI and [125I]IBETA Autoradiography.
Synapse (New York, N.Y.)Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.
Journal, genetic engineering & biotechnology[The symptoms of burnout and possible interpretations among the healthcare workers of the Emergency Department in Szentes].
Orvosi hetilapCongenital lumbar and umbilical hernias in lumbo-costo-vertebral syndrome with ipsilateral renal agenesis: A rare case report with literature review.
International journal of surgery case reportsIron Deficiency Anemia Among Pediatric Celiac Disease Patients at the Armed Forces Hospital Southern Region: Prevalence, Predictors, and Outcomes.
CureusHidden morphological clues in deceptive bone marrow pathologies.
Annales de biologie cliniqueClenched fist syndrome: unveiling a motor manifestation of schizophrenia-a case report.
Journal of medical case reportsA Systematic Review of Clinically Significant Drug-Drug Interactions With Phenobarbital and Primidone.
PharmacotherapyDistinct cerebrospinal fluid profiles of astrocytic aquaporin-4 and GFAP in neuroinflammatory disorders.
Neurobiology of diseaseThe e ffec t of the nose fo rm o n lin ear and a ngular lip po sitio n in C l as s II patients.
JPMA. The Journal of the Pakistan Medical AssociationPredictors of Concussion-Like Symptoms in Women Recruited from the Community with a History of Intimate Partner Violence.
Journal of neurotraumaClinical characteristics and cancer risk of anti-OJ antisynthetase syndrome: A cohort comparative study and a systematic literature review.
Autoimmunity reviewsInsight Into the Multifactorial Nature of Platypnea-Orthodeoxia Syndrome: Not Just a Solo.
JACC. Case reportsLeft Atrial Deformation Parameters After Myocardial Infarction With Low Triiodothyronine Syndrome and Their Prognostic Value.
Cardiology researchExploratory Characterization of Coronary Thrombi by Integrated Mass Spectrometry and Elemental Imaging in Acute Coronary Syndrome.
CureusHyperlipidemia in membranous nephropathy.
Clinical kidney journalPerioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.
Journal of medical cases[Guidelines for the diagnosis and treatment of obstructive sleep apnea in adults (2025)].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesImplications of the cystatin C/creatinine discordance.
Current opinion in nephrology and hypertensionGitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.
Clinical case reportsA prospective multicenter register study exploring health-related quality of life in women with Sjögren's disease during pregnancy.
Frontiers in global women's healthEffects of Metabolic Syndrome on Cardiovascular Outcomes in Non-Obese Heart Failure Patients.
ESC heart failureExpanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.
European journal of pediatricsClear Cell Foci as Precursors of Hepatocyte Nuclear Factor 1-alpha-inactivated Hepatocellular Adenoma in a Metabolic Syndrome Mouse Model.
Acta histochemica et cytochemicaPresentation and temporal nature of postacute sequelae of SARS-CoV-2 infection in a US national cohort.
Brain, behavior, & immunity - healthPediatric tumor lysis syndrome: the nephrologist's role in prevention and management.
Pediatric nephrology (Berlin, Germany)Is GDF15 or PGC-1α involved in 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)-induced wasting syndrome? Evidence from a TCDD-sensitive and a TCDD-resistant rat strain.
Toxicology mechanisms and methodsNo Evidence for Seasonal Variations in Fatigue, Sleepiness and Insomnia Symptoms: Spring Fatigue Is a Cultural Phenomenon Rather Than a Seasonal Syndrome.
Journal of sleep researchMorvan Syndrome Masquerading as Anxiety Disorder: A Case Report Highlighting the Importance of Recognizing Organic Signs in Psychiatric Settings.
International medical case reports journalIntegrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.
Frontiers in cell and developmental biology400 AU/mL IgG protective threshold against SARS-CoV-2 XBB reinfection in Chinese inactivated vaccine recipients: implications for booster vaccination.
Frontiers in immunologyA Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.
Clinical case reportsCentral amygdala HDAC6 contributes to visceral hypersensitivity and affective comorbidities in IBS-like rats.
International immunopharmacologyOSGEP-Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal Trajectories.
QJM : monthly journal of the Association of PhysiciansMorvan syndrome associated with prominent Tau pathology: A clinicopathological case report.
Journal of neuroimmunologyClinical predictors of pediatric obstructive sleep apnea: Demographic and physical factors.
International journal of pediatric otorhinolaryngologyData mining and analysis of adverse drug events of propofol in the general population and the elderly based on the US Food and Drug Administration Adverse Event Reporting System.
MedicineChanges in hypsarrhythmia in West syndrome following combined high-dose prednisolone and vigabatrin therapy: A standardized, low-resolution, brain electromagnetic tomography study.
MedicineDrug-Coated Balloons Beyond In-Stent Restenosis.
Reviews in cardiovascular medicineClinical, immunological characterisation and treatment response of patients with syndrome of undifferentiated recurrent fever in Chinese children and adolescents: a single-centre cohort study.
Frontiers in immunologyIn Vitro Evaluation of Cadmium-Induced Phosphate Reabsorption Impairment.
Journal of applied toxicology : JATDiagnostic Implications of the Endocrine Society and American Academy of Pediatrics Guidelines on blood pressure: associations with sex, blood pressure components, and metabolic syndrome in Korean Adolescents.
Annals of pediatric endocrinology & metabolismLipid Profile Alterations Across Coronary Heart Disease, Metabolic Syndrome, and Nephrotic Syndrome.
Journal of clinical laboratory analysisAntidepressant withdrawal-induced de novo restless legs syndrome: a case report.
Sleep medicineGorham-Stout disease presenting as chest wall defect: A case report and review of literature.
Turk gogus kalp damar cerrahisi dergisiEpidemiologic transition of biliary tract cancers in an endemic region of Korea: insights from a regional cancer center cohort.
BMC gastroenterologyVentricular assist device unloading reverses microvascular senescence in single ventricle disease.
Nature cardiovascular researchInsertional Achilles Tendinopathy with Haglund's Deformity: A Progressive Approach to Post-Operative Rehabilitation in Athletes.
International journal of sports physical therapySingle-cell transcriptomics reveal heat shock protein dysregulation in severe SARS-CoV-2-associated pediatric encephalopathy.
Scientific reportsProviders' Perspectives on the Social Determinants of Health and Burnout Among HIV Care Providers in the United States.
CureusGlucocorticoid receptor blockade reverses heroin and alcohol withdrawal-induced hyperalgesia in rats.
NeuropharmacologyBehavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals.
GenesAn Artificial Intelligence-Driven Multimorbidity Framework Reveals a Shared Metabolic and Immune Core Across Alzheimer's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia.
BiomedicinesProbiotic Potential of Weizmannia coagulans MA42, an Endospore-Forming Probiotic Bacterium Capable of Dietary Fiber Digestion.
Foods (Basel, Switzerland)A Novel Mouse Model to Identify Antigen-Specific Immune Responses in Pancreatic Cancer Cachexia.
CancersVisualization analysis of the use of traditional Chinese medicine in the diagnosis and treatment of rare diseases in mainland China based on CiteSpace.
Intractable & rare diseases researchThe underrated value of non-motor symptoms of Parkinson's disease in making diagnostic and treatment decisions.
Neurologia i neurochirurgia polskaSeronegative Autoimmune Encephalitis With Neuropsychiatric Presentation: A Case Report.
CureusTikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study.
JMIR formative researchNon-aneurysmal Subarachnoid Hemorrhage in an Adult With Sickle Cell Anemia: A Case Report and Review of the Literature.
CureusWhen Stroke Is Not a Stroke: Wernicke's Encephalopathy in a Patient With Chronic Alcohol Misuse.
CureusPredictors of Differentiation Syndrome in Patients with Acute Promyelocytic Leukemia Following Induction Therapy: A Meta-Analysis.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionGlobal trends and future perspectives in autism spectrum disorder and gut microbiota research: a comprehensive bibliometric analysis.
Frontiers in neuroscienceYellow nail syndrome: a syndrome with prominent manifest involvement of the respiratory system.
BMC pulmonary medicineMetformin Activates AMPK to Restrain Mitochondrial ROS-Driven Necroptosis in Cadmium Neurotoxicity.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyAge-Stratified Differences in Cardio-Reno-Metabolic Risk Profiles.
Geriatrics (Basel, Switzerland)Interpretable Prediction of Late-Stage CKM Syndrome Association From Dietary Nutrients in Accelerated Aging Using SHAP and LIME.
Food science & nutritionEffects of Catecholamines on Bone and Mineral Metabolism in Patients with Pheochromocytoma and Paraganglioma.
The Journal of clinical endocrinology and metabolismSkin deep: dermatologic challenges in PCOS through the female lifespan.
Expert review of endocrinology & metabolismPosterior reversible encephalopathy syndrome (PRES): A narrative review of pathophysiology, clinical insights, and advances in management.
International journal of emergency medicineInhibition of RIPK1 prevents keratinocyte cell death and reduces skin inflammation in type 1-mediated chronic inflammatory skin diseases.
The Journal of allergy and clinical immunologyBrain fatigue in Graves' disease: symptoms and presentation of a possible mechanism at the cellular level.
European thyroid journalObsessive-compulsive disorder onset and clinical course in the context and treatment of pineal region germinoma and obstructive hydrocephalus: a case report.
Frontiers in child and adolescent psychiatryClinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.
Frontiers in pediatricsTubular EZH2 promotes acute kidney injury by Inhibiting SDHC-mediated mitochondrial function.
Free radical biology & medicinePerioperative Analgesia and Postoperative Nausea and Vomiting Management in Otoplasty: A Systematic Review.
Plastic and reconstructive surgery. Global openCerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
European journal of neurologyA novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.
Journal of pediatric endocrinology & metabolism : JPEMPearls & Oy-sters: SCA27B as an Elusive Genetic Cause of Episodic Neurologic Symptoms in Later Adulthood.
NeurologyCardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.
Clinical case reportsDyke-Davidoff-Masson Syndrome: A Case of Unilateral Cerebral Atrophy and Seizure Disorder.
Clinical case reportsCytokines in patients with Posner-Schlossman syndrome.
Frontiers in immunologyAssessment of cognitive function in individuals with Down syndrome and dementia: a systematic review.
Dementia & neuropsychologiaSerotonin syndrome presenting as severe reversible cerebral vasoconstriction syndrome.
Practical neurologyPathogenesis and Pharmacotherapy of Acute Respiratory Distress Syndrome Induced by Pandemic Viral Infections: A Narrative Review.
CureusNADCdb: A Joint Transcriptomic Database for Non-AIDS-Defining Cancer Research in HIV-Positive Individuals.
International journal of molecular sciencesClinical Applications of Data Science and Machine Learning in the Pediatric Cardiac Intensive Care Unit.
Pediatric cardiologyDevelopmental dysregulation of chandelier cell excitability in a mouse model of Dravet Syndrome.
bioRxiv : the preprint server for biologyMulti-model Diffusion MRI Signatures in Atypical Parkinsonian Disorders.
medRxiv : the preprint server for health sciencesThe lived experiences of women with polycystic ovary syndrome and its psychological challenges: A systematic review and meta-synthesis.
Archives of women's mental healthActivating PXR by Curcumol Ameliorates DSS-Induced Ulcerative Colitis via Transcriptional Repression of STING Signaling.
Journal of agricultural and food chemistryDrug-associated Takotsubo syndrome risk profiling: a global pharmacovigilance study.
Heart (British Cardiac Society)Protective role of early Tnfsf15 upregulation in limiting glomerular injury and proteinuria in experimental Alport Syndrome.
Journal of pharmacological sciencesSymptomatic Ventromedial Scapular Osteochondroma Presenting with Restriction of Shoulder Movements: A Case Report.
Journal of orthopaedic case reportsCharacteristics of cognitive disengagement syndrome in children diagnosed with tic disorder.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescenceMesangial sclerosing glomerulopathy following luspatercept treatment - a case report.
BMC nephrologyA network analysis of postoperative frailty in older adults: a prospective multicenter study in China.
BMC geriatricsA Case Report of Milk-Alkali Syndrome Secondary to Excessive Antacid Use.
Clinical practice and cases in emergency medicineCognitive profiles in older adults with psychotic disorders: Results from routine clinical assessments.
Schizophrenia research. CognitionLoss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.
Frontiers in physiologyCase Report: Neuroretinitis versus hypertensive retinopathy secondary to Alport syndrome.
Frontiers in neurologyConstruct validity of instrumented gait assessments in hospital and daily life mobility in patients with Parkinson's disease and atypical Parkinson's syndromes: an exploratory study.
Journal of neurologyExpanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.
GeneHemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.
Clinics and research in hepatology and gastroenterologyCytokine storm divergence in viral infections of the upper respiratory tract.
Cytokine & growth factor reviewsHO-1/Nrf2 activation orchestrates protection in sepsis-induced lung injury by suppressing CCR2hi monocyte recruitment and MAPK-driven inflammation.
Free radical biology & medicineGlobal research trends and clinical trial progress in varicose vein treatment: A decade of advancements (2014-2024).
MedicineApproach to the Patient: Therapeutic Mitigation of Lacrimal Manifestations in Thyroid Eye Disease.
The Journal of clinical endocrinology and metabolismSerum uric acid levels in patients with different phenotypes of polycystic ovary syndrome.
The Indian journal of medical researchPhysician-dominated yet suboptimal: Evaluating the quality of Meniere's disease information on TikTok in China.
Digital healthCSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge.
Frontiers in human neuroscienceA Joint Survival Modeling and Therapy Knowledge Graph Framework to Characterize Opioid Use Disorder Trajectories.
ArXivA Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.
CureusThe dangerous liaisons between central venous stents and catheters: a case report.
The journal of vascular accessSpatiotemporal aggregation and population distribution characteristics of HIV/AIDS in Nanchang city: A monitoring analysis from 2012-2021.
PloS oneAggregate learning ratio from the Neuropsychological Assessment Battery distinguishes between amnestic and non-amnestic mild cognitive impairment in a real-world clinical sample.
Applied neuropsychology. AdultBehavioral trait (co)variances and plasticity in response to turbidity in wild zebrafish (Danio rerio).
Biology openRenoportal anastomosis in pediatric living donor liver transplantation: a case report.
Clinical transplantation and researchLargely Distinct Post-Translational Modifications Differentiate Skeletal Muscle Wasting Caused by Cancer, Dexamethasone and Aging.
Journal of cachexia, sarcopenia and muscleBeneath the tip of the iceberg: treatment of neuropsychiatric comorbidities in tic disorders.
Handbook of clinical neurologyIdentifying chemicals associated with irritable bowel syndrome by integrating a transcriptome-wide association study with chemical-gene-interaction analysis.
PloS oneExpanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.
Neurology. GeneticsNewly Diagnosed Crohn's Disease After SARS-CoV-2 Infection.
Case reports in gastrointestinal medicineChinese Herb-Induced Type II Crescentic Glomerulonephritis: A Case Report of Four Patients.
Kidney medicineSleep disturbances in children and adolescents with epilepsy: Clinical, polysomnographic and management aspects.
Sleep medicineOsteoarthritic knee: Advances in Epidemiology, Emerging Etiopathologies and Adipose-Derived Stem Cells-based Therapies.
Aging and diseaseClinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.
BMC pediatricsPost-marketing safety concerns with trofinetide: a disproportionality analysis of the first therapeutic agent for Rett syndrome based on the FDA adverse event reporting system (FAERS).
Frontiers in pharmacologyAutonomic small fiber involvement in painful long COVID: a histological and clinical study.
Frontiers in human neuroscienceTakotsubo Syndrome Triggered by Immune Checkpoint Inhibitor-Induced Pneumonitis: A Multidisciplinary Diagnostic and Therapeutic Challenge.
The American journal of case reportsPost-marketing safety surveillance of tarlatamab: a real-world pharmacovigilance study based on the FAERS database.
Naunyn-Schmiedeberg's archives of pharmacologyCompensatory hallucinogenesis across three neuropsychiatric disorders: a Bayesian account.
Brain communicationsAtypical Presentation of a Preeclamptic Patient With Severe Features and Auditory Hallucinations.
CureusPostoperative Corneal Dellen Following PreserFlo MicroShunt: A Case Report.
The American journal of case reportsT-Cell Signaling Pathways, Including Exhaustion, Predominate in Unhealthy Visceral and Subcutaneous Adipose Tissues.
Obesity (Silver Spring, Md.)Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.
Neuropathology : official journal of the Japanese Society of NeuropathologyKratom use in adolescents and college students: a systematic review of prevalence, patterns, and risk factors across community and rehabilitation settings.
The American journal of drug and alcohol abuseFrailty in Hepatocellular Carcinoma: An Unsettled Clinical Challenge.
Current oncology (Toronto, Ont.)Viral glycoprotein-mediated entry and antibody-mediated immunity in HIV-1 and SARS-CoV-2 infection.
Frontiers in immunologyVoice Outcomes after Expansion Sphincter Pharyngoplasty in Patients with Obstructive Sleep Apnea Syndrome.
Journal of voice : official journal of the Voice FoundationDoes Cognitive Disengagement Syndrome Affect the Cognitive Flexibility of Children with Attention Deficit Hyperactivity Disorder?
The Eurasian journal of medicineExpanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.
American journal of medical genetics. Part ABMI1 represses G-quadruplex DNA formation to maintain genomic stability during replication.
The Journal of biological chemistryEpilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study.
SeizureScreening of kinase-related genes as diagnostic biomarkers and immune infiltration analysis in sepsis.
ImmunobiologyDipyridamole-associated pulmonary edema: discovery of a new potential adverse reaction signal based on the FAERS database.
Expert opinion on drug safetyCore symptoms and potential pathways of multidimensional frailty: a nationwide population-based study integrating network analysis and directed acyclic graphs.
Journal of affective disordersBeyond the Follicle: A Narrative Review on How Systemic Diseases and Drugs Affect Alopecia.
Pharmaceutical medicineMechanisms of Podocyte Injury Due to Loss of the Nucleoporin NUP93.
Journal of the American Society of Nephrology : JASNLocalized Iron Deposition and Shape Changes of Cerebellar Dentate in Progressive Supranuclear Palsy Clinical Variants.
Movement disorders : official journal of the Movement Disorder SocietyMedical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report.
American journal of ophthalmology case reportsNeurological Complications Associated With COVID-19 Compared to Other Viral Infections: A Systematic Review of Current Evidence.
CureusPharmacovigilance study on neurological adverse reactions of proteasome inhibitors in the FDA adverse event reporting system.
Frontiers in pharmacologyOverexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.
Acta neuropathologica communicationsDecoding miRNA-Mediated Immunoregulation in SARS-CoV-2, HBV, HIV, and HSV Infections.
Genes and immunityHemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated with SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-month-old Girl: A Case Report.
NeuropediatricsEvaluation of Left Ventricular, Left Atrial, and Right Ventricular Function in Patients With Behçet's Disease by Strain Echocardiography.
Echocardiography (Mount Kisco, N.Y.)Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation.
Frontiers in geneticsArtificial intelligence for early diagnosis in emergency department.
Journal of anesthesia, analgesia and critical careMechano-electrical feedback in transgenic rabbit models of long QT syndrome Type 2 and short QT syndrome Type 1.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyEarly capecitabine metronomic chemotherapy improves patient prognosis and safety in early-stage triple-negative breast cancer.
American journal of translational researchExpanding the Diagnostic Lens: Mast Cell Activation Syndromes and the Hidden Spectrum of Angioedema Associated Mortality in COVID-19.
Academic forensic pathologyEfficacy and safety of efgartigimod PH20 SC for Sjögren's disease-associated dryness: study protocol for an investigator-initiated, multicenter, phase 2, randomized, double-blind, placebo-controlled trial (OASIS study).
Frontiers in medicineTakotsubo syndrome presenting as ventricular fibrillation cardiopulmonary arrest coupled with complete heart block.
Journal of cardiology casesDifferential alpha-gal expression during Amblyomma hebraeum and Rhipicephalus evertsi tick feeding and development: A driver for the development of alpha-gal syndrome in South Africa.
The journal of allergy and clinical immunology. GlobalCentral nervous symptoms as the prominent manifestation of Sjögren's disease (SjD): a case report.
BMC neurologyAlleviation of depression rather than pain predicts disease improvement in fibromyalgia patients with prominent psychological symptoms-a prospective observational study.
Seminars in arthritis and rheumatismRobotic segment III liver resection for hepatocellular carcinoma in the setting of Cruveilhier-Baumgarten syndrome: A case report.
International journal of surgery case reportsIncreased triacylglyceride and ceramide levels are key for MERS-CoV replication.
mSphereThe role of Rho GTPases in facial morphogenesis.
Developmental dynamics : an official publication of the American Association of AnatomistsPeak strain dispersion as a nonlinear mediator in HFpEF: Unraveling subtype-specific pathways via SHAP-augmented ensemble modeling.
PLoS computational biologyBaclofen Potentiates Neurological Impairment in Dialysis Disequilibrium Syndrome.
CureusA relationship study of factors associated with emotional eating in women in Türkiye: body mass index, premenstrual syndrome, eating behavior, and quality of life.
BMC women's healthThe Beneficial Effects of Glucagon-Like Peptide-1 Agonists on Blood Pressure: A Comprehensive Review.
Reviews in cardiovascular medicineA One-Dimensional (1D) Computational Fluid Dynamics Study of Fontan-Associated Liver Disease (FALD).
International journal for numerical methods in biomedical engineeringFatal West Nile Encephalomyelitis in a Young Woman with Hypoparathyroidism and Sjögren's Syndrome. Molecular Insights into Viral Neuro-Invasivity.
International journal of molecular sciencesTransient receptor potential channels as emerging therapeutic targets: mechanisms and therapeutic insights in inflammatory bowel disease.
Biochemical pharmacologyGenetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of Drosophila melanogaster During Aging.
CellsMetabolic syndrome in Australia: nationwide survey results by remoteness and Indigenous status, 2012-2019.
International journal of obesity (2005)DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Genome medicineDevelopment of a Novel Benzodiazepine to Delineate Peripheral GABA-A Signaling Mechanisms in Visceral Pain Syndromes.
Cellular and molecular gastroenterology and hepatologyHospice Clinicians' Approaches to Terminal Restlessness: A Qualitative Analysis.
Journal of pain and symptom managementMultifaceted role of interleukin-32 in inflammatory diseases and cancer.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieOphthalmic phenotype associated with a novel mutation in LAMB3 gene linked to uncommon Intermediate Junctional Epidermolysis Bullosa.
American journal of ophthalmology case reportsEEG and clinical findings in pediatric epilepsy and control groups using video-based pattern stimulation.
Epileptic disorders : international epilepsy journal with videotapeHigher Plasma Kynurenine to Tryptophan Correlates with an Increased Incidence of Mild Cognitive Impairment in Treated Metabolic Syndrome Patients.
ACS omegaComparative study on the neurotoxicity of five bisphenols using zebrafish embryos/larvae models.
Environmental toxicology and pharmacologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de glabela proeminente-microcefalia-hipogenitalismo.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de glabela proeminente-microcefalia-hipogenitalismo
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
- Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
- Clinical profile and treatment outcomes of patients with chronic presentations of autoimmune encephalitis: expanding the spectrum.
- Pediatric-related post-COVID condition (long COVID) research and its foundational influences: a bibliometric analysis (2020-2025).
- Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
- Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience.
- Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia.
- Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report.
- Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2083(Orphanet)
- OMIM OMIM:247990(OMIM)
- MONDO:0009543(MONDO)
- GARD:144(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782055(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