Raras
Buscar doenças, sintomas, genes...
Síndrome de Fowler
ORPHA:221126CID-10 · Q04.8OMIM 225790DOENÇA RARA

A síndrome do segundo sistema, síndroma do segundo sistema ou efeito do segundo sistema é a tendência de sistemas pequenos, elegantes, e bem-sucedidos serem sucedidos por sistemas sobre-engenhados e inchados, devido a expectativas infladas e excesso de confiança.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Síndrome de Fowler é uma doença autossômica recessiva rara associada ao gene FLVCR2, caracterizada por prematuridade, acinesia, hipoplasia muscular e cerebral (incluindo agenesia do corpo caloso e hipoplasia cerebelar), convulsões e polidrâmnio. Geralmente resulta em microcefalia e deficiências neurológicas graves.

Publicações científicas
1.875 artigos
Último publicado: 2026 Apr 16

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
Worldwide
Casos conhecidos
44
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q04.8
🇧🇷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
Você se identifica com essa condição?
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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

🧠
Neurológico
6 sintomas
😀
Face
3 sintomas
💪
Músculos
2 sintomas
🦴
Ossos e articulações
2 sintomas
📏
Crescimento
1 sintomas
❤️
Coração
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

100%prev.
Ventriculomegalia
Frequência: 6/6
100%prev.
HP:0003577
Frequência: 7/7
86%prev.
Contratura articular
Frequência: 6/7
71%prev.
Pé torto
Frequência: 5/7
71%prev.
Hidrocefalia
Frequência: 5/7
43%prev.
Hidranencefalia
Frequência: 3/7
24sintomas
Muito frequente (3)
Frequente (3)
Ocasional (6)
Sem dados (12)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.

VentriculomegaliaVentriculomegaly
Frequência: 6/6100%
HP:0003577
Frequência: 7/7100%
Contratura articularJoint contracture
Frequência: 6/786%
Pé tortoTalipes
Frequência: 5/771%
HidrocefaliaHydrocephalus
Frequência: 5/771%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.875PubMed
Últimos 10 anos200publicações
Pico202233 papers
Linha do tempo
2026Hoje · 2026🧪 2013Primeiro ensaio clínico📈 2022Ano de pico
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.

FLVCR2Choline/ethanolamine transporter FLVCR2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Choline uniporter that specifically mediates choline uptake at the blood-brain-barrier (PubMed:38302740, PubMed:38778100). Responsible for the majority of choline uptake across the blood-brain-barrier from the circulation into the brain (By similarity). Choline, a nutrient critical for brain development, is a precursor of phosphatidylcholine, as well as betaine (By similarity). Also mediates transport of ethanolamine (PubMed:38778100). Choline and ethanolamine transport is not coupled with proto

LOCALIZAÇÃO

Cell membraneMitochondrion membraneEndoplasmic reticulum membrane

MECANISMO DE DOENÇA

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue.

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
42.2 TPM
Testículo
28.6 TPM
Baço
26.1 TPM
Glândula adrenal
17.3 TPM
Pulmão
14.6 TPM
OUTRAS DOENÇAS (1)
Fowler syndrome
HGNC:20105UniProt:Q9UPI3

Variantes genéticas (ClinVar)

47 variantes patogênicas registradas no ClinVar.

🧬 FLVCR2: NM_017791.3(FLVCR2):c.1076T>C (p.Leu359Pro) ()
🧬 FLVCR2: NM_017791.3(FLVCR2):c.1509+1G>A ()
🧬 FLVCR2: NM_017791.3(FLVCR2):c.1024del ()
🧬 FLVCR2: NM_017791.3(FLVCR2):c.742T>C (p.Tyr248His) ()
🧬 FLVCR2: NM_017791.3(FLVCR2):c.1327A>T (p.Asn443Tyr) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de Fowler

🗺️

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

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Accounting for non-adherence to assigned antibiotic treatment duration for bloodstream infection (BALANCE): a post-hoc analysis of a randomised clinical trial.

The Lancet. Infectious diseases2026 Mar

The BALANCE trial (NCT03005145) showed non-inferiority of 7-day versus 14-day antibiotic duration for treatment of patients with non-Staphylococcus aureus uncomplicated bloodstream infection (BSI). Non-adherence to assigned duration occurred in 728 (20·3%) of 3581 patients. This post-hoc analysis aimed to identify factors associated with this non-adherence, and evaluate its effect on validity of trial results. We identified factors associated with non-adherence using generalised linear mixed models. Adherence was defined as receiving antibiotic duration up to 2 days longer or shorter than assigned duration, measured using a trial-specific adherence variable (assessed daily by research staff) and a separate variable capturing total antibiotic duration. We estimated the effect of antibiotic duration on the primary outcome of 90-day all-cause mortality, accounting for confounding introduced by non-adherence, in adjusted per-protocol and as-treated populations (using two different adherence definitions: first, using an adherence variable as assessed daily by site research staff, and second, using a total antibiotic duration variable recording the total cumulative antibiotic duration received), using inverse probability of treatment weighting (IPTW) and instrumental variable methods. We compared these adjusted estimates to the primary effect estimates in BALANCE and used the same 4% non-inferiority margin to determine non-inferiority of 7-day duration. 3581 patients with complete outcome data were included. Non-adherence was higher in the 7-day group (432 [24·0%] of 1802 patients) versus 14-day group (296 [16·6%] of 1779). Disease severity, intra-abdominal and skin or soft tissue source of infection, persistent fever, and persistent bacteraemia were associated with treatment prolongation, whereas vascular catheter source and antimicrobial resistance were associated with treatment shortening. Adjusted risk differences for the primary outcome of 90-day all-cause mortality were similar to the primary results in BALANCE: (1) IPTW per-protocol analysis (definition one): -1·61% (95% CI -4·13 to 0·87); IPTW per-protocol analysis (definition two): -1·91% (95% CI -4·61 to 0·93); and IPTW as-treated analysis: -0·75% (95% CI -3·36 to 1·86); and (2) instrumental variable analysis (definition one): -2·68% (95% CI -6·65 to 1·29) and instrumental variable analysis (definition two): -2·80% (95% CI -5·98 to 0·37). Non-adherence in BALANCE was significantly associated with a range of important prognostic factors, which might have introduced bias. Causal inference methods addressing this bias showed a consistent conclusion of non-inferiority, strengthening the validity of this finding. 7-day antibiotic duration should be the standard of care for patients with uncomplicated BSI. The BALANCE trial was funded by the Canadian Institutes of Health Research, Health Research Council of New Zealand, Australian National Medical Research Council, Physicians Services Incorporated Ontario, and Ontario Ministry of Health and Long-term Care Innovation Fund.

#2

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

European journal of human genetics : EJHG2026 Mar

FLVCR2 is a highly conserved member of the major facilitator superfamily (MFS), the largest superfamily of solute carriers that are involved in the transport of small molecules across lipid bilayers. The loss of the murine ortholog Mfsd7c, an endothelial transporter in brain blood vessels, causes brain angiogenic growth deficiency and lethality. Recessive FLVCR2 variants cause proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome. This often-lethal condition features microcephaly, skeletal deformities, and severe cerebrovascular defects. Although a number of cases have been reported, very limited evidence of the pathogenicity of FLVCR2 variants is available. In this study, we thoroughly investigated a new fetal case of Fowler syndrome. Through exome sequencing, we identified two compound heterozygous FLVCR2 variants: the maternal c.1124+3_1124+6del and the paternal p.(Arg492Trp). The effects of the c.1124+3_1124+6del variant were investigated through a minigene assay, which showed impaired splicing of the exon 5 of FLVCR2. To characterize the impact of the p.(Arg492Trp) substitution, we performed protein modeling using Rosetta and DynaMut2, that showed a highly destabilizing effect. Then, based on the very recent evidence that choline is a major FLVCR2 ligand, we performed a radiolabeled-choline or ethanolamine transport assays in HEK 293 cells and found that the p.(Arg492Trp) variant causes a 50-60% reduction of FLVCR2 transport activity, resulting in a net activity of 25-30%. Our findings suggest that FLVCR2 deficiency may be sufficient to cause PVHH even in the absence of a complete loss of transport activity, possibly involving extragenetic factors in the pathophysiology of this complex condition.

#3

Ultrasonographic Diagnosis of Bilateral Spontaneous Ovarian Hemorrhage in a 7-Year-Old Female Black-and-White Ruffed Lemur (Varecia variegata).

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association2026 Mar

A 7-year-old female intact, black-and-white ruffed lemur (Varecia variegata) presented for acute anorexia, lethargy, and abnormal behavior. Initial radiographs were concerning for gastrointestinal ileus. Abdominal ultrasonography identified bilateral periovarian masses and a moderate volume of echogenic peritoneal effusion; no definitive blood flow was seen within the masses on Color Doppler. Bilateral ovariectomy was performed, and histopathology confirmed bilateral ovarian hematomata and hemoabdomen due to an idiopathic arteriopathy. The patient recovered with no significant postoperative complications. This is the first reported case of spontaneous bilateral ovarian hemorrhage in a black-and-white ruffed lemur, secondary to idiopathic arteriopathy, reported within the veterinary literature.

#4

Experiences with real-world teclistamab administration in community and outpatient settings: a mixed-methods study of hematology providers.

Current medical research and opinion2026 Jan

To describe real-world care models for teclistamab step-up dosing (SUD) and considerations for successful implementation among community-based practices and/or practices employing outpatient SUD. This mixed-methods study involved a survey, interviews, and roundtable discussion with US providers with real-world teclistamab experience. Survey topics included their practice's SUD model, adverse event management, and transition of care processes. Select survey respondents were interviewed to describe their practices' SUD models in-depth and barriers/facilitators to these models. A subsequent roundtable was held to provide additional context on current models. A total of 38 clinicians from unique practices completed the survey between March-August 2024; 76% worked at community-based practices and 66% had treated ≥5 multiple myeloma patients with teclistamab. Among survey participants, eight completed an interview and seven joined the roundtable. Among the 38 practices, 53% employed outpatient SUD, 26% inpatient SUD, and 21% referred out for SUD. Patient-level requirements for outpatient SUD (n = 20) included caregiver support (90%), proximity to administering site (70%), good performance status (65%), and low disease burden (30%). The top factors which triggered inpatient admissions were any grade immune effector cell-associated neurotoxicity syndrome (85%), grade ≥2 cytokine release syndrome (70%), and abnormal vital signs (60%). Over a quarter of practices (29%) used tocilizumab prophylactically. Outpatient teclistamab SUD has been successfully implemented in real-world practice for appropriately selected patients. This study provides insights into real-world outpatient SUD, including in community practices, to inform providers seeking to implement similar models to improve patient access while reducing cost and resource burden. Multiple myeloma is a blood cancer that develops in plasma cells. Teclistamab is a new treatment for patients whose multiple myeloma has returned or no longer responds to other therapies. Teclistamab can cause certain side effects and hence needs to be given in a special way called step-up dosing to lower the risk of these side effects. The risk of side effects and step-up dosing may cause some healthcare providers to feel unsure about how to use teclistamab safely. In this study, we asked doctors and other healthcare providers who have experience with using teclistamab about how they give this drug, manage the side effects, and handle patient care before and after the dosing. About half of the providers said that they give teclistamab in outpatient clinics to select patients (e.g. with caregivers or living close to the clinic). To help prevent side effects, preventive treatments are recommended but may be challenging to get coverage for these preventive treatments. However, recent changes in national guidelines supporting the use of preventive treatments have helped to reduce this challenge. More real-world information is needed to help community clinics to safely use teclistamab for their patients.

#5

ACR Appropriateness Criteria® Imaging After Liver Transplant.

Journal of the American College of Radiology : JACR2026 Feb 17

Liver transplantation is currently the treatment of choice for patients with acute or advanced chronic liver failure. Complications that can lead to liver allograft failure or patient mortality include vascular abnormalities, biliary complications, infection, rejection, and recurrent or posttransplant malignancy. Imaging plays a vital role in detecting these complications. This document summarizes the relevant literature for the selection of imaging after liver transplant for the following clinical scenarios: immediate postoperative period, postoperative complications of suspected vascular etiology, postoperative complications of suspected biliary etiology, and postoperative surveillance. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 198

2026

Ultrasonographic Diagnosis of Bilateral Spontaneous Ovarian Hemorrhage in a 7-Year-Old Female Black-and-White Ruffed Lemur (Varecia variegata).

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2026

Experiences with real-world teclistamab administration in community and outpatient settings: a mixed-methods study of hematology providers.

Current medical research and opinion
2026

ACR Appropriateness Criteria® Imaging After Liver Transplant.

Journal of the American College of Radiology : JACR
2025

Prophylaxis for venous thromboembolism in traumatic brain injury: protocol for a randomised controlled trial.

BMJ open
2025

Assessing the feasibility of a platform trial for Gram negative bloodstream infections: results from the vanguard phase of BALANCE.

BMJ open
2026

Accounting for non-adherence to assigned antibiotic treatment duration for bloodstream infection (BALANCE): a post-hoc analysis of a randomised clinical trial.

The Lancet. Infectious diseases
2025

Contemporary randomized controlled trials in uncomplicated type B aortic dissection: a comparative methodological analysis.

The Journal of cardiovascular surgery
2026

Clinical characteristics, management, and outcomes of traumatic cerebral venous sinus thrombosis.

The journal of trauma and acute care surgery
2025

Diagnostic strategies for suspected acute aortic syndrome: systematic review, meta-analysis, decision-analytic modelling and value of information analysis.

Health technology assessment (Winchester, England)
2025

Longitudinal Metabolic Trajectories in Diabetes Prevention Program Participants Reveal Subgroups With Varying Micro- and Macrovascular Complication Risks.

Diabetes care
2025

Real-world patient profile and step-up dosing process of early initiators of teclistamab for multiple myeloma in US hospitals: An analysis using the Premier Healthcare Database.

Journal of managed care &amp; specialty pharmacy
2025

Sex Differences in Stroke Care and Outcomes: A National Stroke Registry Study.

Journal of the American Heart Association
2026

Cost Savings of Switching to Aspirin for Thromboprophylaxis in Orthopaedic Trauma Patients: A Budget Impact Analysis.

The Journal of the American Academy of Orthopaedic Surgeons
2025

Identification of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy) in a pregnancy following single euploid embryo transfer.

Journal of assisted reproduction and genetics
2025

Cost-effectiveness of fenofibrate versus standard care for reducing the progression of diabetic retinopathy: An economic evaluation based on data from the LENS trial.

Diabetic medicine : a journal of the British Diabetic Association
2025

Cost per responder for teclistamab and elranatamab in relapsed or refractory multiple myeloma in the United States.

Journal of medical economics
2025

Burden of illness among patients with relapsed or refractory multiple myeloma, and eligible for B-cell maturation antigen-targeted therapies.

Future oncology (London, England)
2025

Management of Staphylococcus aureus Bacteremia: A Review.

JAMA
2026

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

European journal of human genetics : EJHG
2025

Rapamycin-resistant polyclonal Th1/Tc1 cell therapy (RAPA-201) safely induces disease remissions in relapsed, refractory multiple myeloma.

Journal for immunotherapy of cancer
2025

Coronary CT angiography-guided management of patients with stable chest pain: 10-year outcomes from the SCOT-HEART randomised controlled trial in Scotland.

Lancet (London, England)
2024

The impact of pediatric post-cardiac arrest care on survival: A multicenter review from the AHA get with the Guidelines®-resuscitation post-cardiac arrest care registry.

Resuscitation
2025

Lentivirus-mediated gene therapy for Fabry disease: 5-year End-of-Study results from the Canadian FACTs trial.

Clinical and translational medicine
2025

Real-World Safety and Health Care Resource Utilization of Teclistamab Under an Outpatient Model for Step-Up Dosing Administration.

JCO oncology practice
2024

Complex Thrombo-Inflammatory Responses versus Outcomes of Non-COVID-19 Community-Acquired Pneumonia and COVID-19.

Journal of innate immunity
2025

Antibiotic Treatment for 7 versus 14 Days in Patients with Bloodstream Infections.

The New England journal of medicine
2024

Validation of a diagnostic support tool for early recognition of cervical arterial dissection in primary care.

Clinical neurology and neurosurgery
2024

Decision analytical modelling of strategies for investigating suspected acute aortic syndrome.

Emergency medicine journal : EMJ
2024

Inequities in air pollution on stroke mortality among Older Americans: a U.S. nationwide analysis.

Frontiers in public health
2024

Effects of Losartan on Patients Hospitalized for Acute COVID-19: A Randomized Controlled Trial.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
2025

Risk of Venous Thromboembolism After Total Knee Arthroplasty in Patients with Obstructive Sleep Apnea: Results from a National Cohort.

Anesthesia and analgesia
2024

TRIM44, a Novel Prognostic Marker, Supports the Survival of Proteasome-Resistant Multiple Myeloma Cells.

Cells
2024

Subarachnoid haemorrhage in the emergency department (SHED): a prospective, observational, multicentre cohort study.

Emergency medicine journal : EMJ
2024

Trends in patient characteristics and mortality among Medicare patients diagnosed with peripheral artery disease.

Vascular medicine (London, England)
2024

At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods.

Scientific reports
2025

Hemorrhagic transformation in acute ischemic stroke: hemorrhagic subtypes and symptomatic intracranial hemorrhage.

Journal of neurointerventional surgery
2024

Marginal Full Thickness Blepharotomy for Management of Orbital Compartment Syndrome.

Ophthalmic plastic and reconstructive surgery
2024

Association between tissue loss type and amputation risk among Medicare patients with concomitant diabetes and peripheral arterial disease.

Journal of vascular surgery
2024

Clinical decision aids and computed tomography coronary angiography in patients with suspected acute coronary syndrome.

Emergency medicine journal : EMJ
2024

The Sustained Impact of the COVID-19 Pandemic on Vascular Surgical Care Delivery.

Annals of vascular surgery
2024

Who dies from venous thromboembolism after hospitalisation for other reasons in England?: a national retrospective cohort study.

BMJ open
2024

Nexplanonectomy-the surgical removal of an embolized implanted contraceptive device: a case report and review of the literature.

Journal of medical case reports
2024

Nursing Considerations for Cytokine Release Syndrome in Relapsed/Refractory Multiple Myeloma: Experience with Teclistamab from the MajesTEC-1 Study.

Seminars in oncology nursing
2024

Timing of Major Postoperative Bleeding Among Patients Undergoing Surgery.

JAMA network open
2025

The Role of County-Level Persistent Poverty in Stroke Mortality in the USA.

Journal of racial and ethnic health disparities
2024

Inter-Rater Reliability for the Amputation Endpoint in the National Vascular Quality Initiative.

JACC. Cardiovascular interventions
2024

Outcomes of Impella 5.0 and 5.5 for cardiogenic shock: A single-center 137 patient experience.

Artificial organs
2024

Design, recruitment and baseline characteristics of the LENS trial.

Diabetic medicine : a journal of the British Diabetic Association
2024

Effect of Aspirin Versus Low-Molecular-Weight Heparin Thromboprophylaxis on Medication Satisfaction and Out-of-Pocket Costs: A Secondary Analysis of a Randomized Clinical Trial.

The Journal of bone and joint surgery. American volume
2024

High-Specificity CRISPR-Mediated Genome Engineering in Anti-BCMA Allogeneic CAR T Cells Suppresses Allograft Rejection in Preclinical Models.

Cancer immunology research
2024

"Coming home was a disaster, I didn't know what was going to happen": a qualitative study of survivors' and family members' experiences of navigating care post-stroke.

Disability and rehabilitation
2024

Priorities for developing stroke care in Ireland from the perspectives of stroke survivors, family carers and professionals involved in stroke care: A mixed methods study.

PloS one
2024

Dynamic metabolism of endothelial triglycerides protects against atherosclerosis in mice.

The Journal of clinical investigation
2024

Risk-stratified thromboprophylaxis effects of aspirin versus low-molecular-weight heparin in orthopedic trauma patients: A secondary analysis of the PREVENT CLOT trial.

The journal of trauma and acute care surgery
2024

Cardiogenic shock etiology and exit strategy impact survival in patients with Impella 5.5.

The International journal of artificial organs
2024

Survey of current policy regarding the recognition and management of acute aortic syndrome in Great Britain.

Emergency medicine journal : EMJ
2024

Proteomic Evolution from Acute to Post-COVID-19 Conditions.

Journal of proteome research
2023

Multi-Site Identification and Generalization of Clusters of Walking Behaviors in Individuals With Chronic Stroke and Neurotypical Controls.

Neurorehabilitation and neural repair
2023

A Rare Case of Losartan-Induced Visceral Angioedema.

Journal of primary care &amp; community health
2024

Diagnosis of Acute Aortic Syndrome in the Emergency Department (DAShED) study: an observational cohort study of people attending the emergency department with symptoms consistent with acute aortic syndrome.

Emergency medicine journal : EMJ
2024

Discontinuation vs. continuation of renin-angiotensin system inhibition before non-cardiac surgery: the SPACE trial.

European heart journal
2023

Intravenous Vitamin C for Patients Hospitalized With COVID-19: Two Harmonized Randomized Clinical Trials.

JAMA
2023

Trends of Concomitant Diabetes and Peripheral Artery Disease and Lower Extremity Amputation in US Medicare Patients, 2007 to 2019.

Circulation. Cardiovascular quality and outcomes
2023

Inter-observer agreement and accuracy of LI-RADS v2018 for differentiating tumor in vein from bland thrombus using gadoxetic acid-enhanced magnetic resonance imaging.

Abdominal radiology (New York)
2023

The synthetic oleanane triterpenoid CDDO-2P-Im binds GRP78/BiP to induce unfolded protein response-mediated apoptosis in myeloma.

Molecular oncology
2023

Improved Myelination following Camp Leg Power, a Selective Motor Control Intervention for Children with Spastic Bilateral Cerebral Palsy: A Diffusion Tensor MRI Study.

AJNR. American journal of neuroradiology
2023

Heterogeneous Treatment Effects of Therapeutic-Dose Heparin in Patients Hospitalized for COVID-19.

JAMA
2023

Effect of Thromboprophylaxis on Clinical Outcomes After COVID-19 Hospitalization.

Annals of internal medicine
2023

Phase 3 Trial of Sotatercept for Treatment of Pulmonary Arterial Hypertension.

The New England journal of medicine
2023

Aspirin or Low-Molecular-Weight Heparin for Thromboprophylaxis after a Fracture.

The New England journal of medicine
2023

Expression of pentraxin 3 in equine lungs and neutrophils.

Canadian journal of veterinary research = Revue canadienne de recherche veterinaire
2023

All Staphylococcus aureus bacteraemia-inducing strains can cause infective endocarditis: Results of GWAS and experimental animal studies.

The Journal of infection
2022

Deriving International Classification of Diseases, 9th and 10th revision, codes for identifying and following up patients with diabetic lower extremity ulcers.

Journal of vascular surgery cases and innovative techniques
2023

Macrophage-Derived 25-Hydroxycholesterol Promotes Vascular Inflammation, Atherogenesis, and Lesion Remodeling.

Circulation
2022

Treatment of Complex Two-Vessel Coronary Heart Disease with Single Left Internal Mammary Artery as T-Graft with Itself-A Retrospective Double Center Analysis of Short-Term Outcomes.

Medicina (Kaunas, Lithuania)
2022

Risk Factors for the Development of Retinopathy in Prediabetes and Type 2 Diabetes: The Diabetes Prevention Program Experience.

Diabetes care
2022

Evaluation of the Rapid Arterial oCclusion Evaluation (RACE) scale in Upstate South Carolina, USA.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2023

Neurological manifestations of COVID-19 in adults and children.

Brain : a journal of neurology
2022

Use of artificial intelligence in ophthalmology: a narrative review.

Sao Paulo medical journal = Revista paulista de medicina
2022

Inflammatory stress signaling via NF-kB alters accessible cholesterol to upregulate SREBP2 transcriptional activity in endothelial cells.

eLife
2022

Head and neck arteriovenous malformations: University of Tennessee experience, 2012-2022.

Neurosurgical focus
2022

Association of Renin Angiotensin Aldosterone System Inhibitors and Outcomes of Hospitalized Patients With COVID-19.

Critical care medicine
2022

Antibiotic treatment duration for bloodstream infections in critically ill children-A survey of pediatric infectious diseases and critical care clinicians for clinical equipoise.

PloS one
2022

Study on the effects of different postprandial positions on blood pressure and heart rate in older adults with primary hypertension and postprandial hypotension.

Geriatric nursing (New York, N.Y.)
2022

Oral Contraceptives, Hormone Replacement Therapy, and Stroke Risk.

Stroke
2023

Intra-abdominal hypertension in cardiac surgery patients: a multicenter observational sub-study of the Accuryn registry.

Journal of clinical monitoring and computing
2022

Renin-Angiotensin System Pathway Therapeutics Associated With Improved Outcomes in Males Hospitalized With COVID-19.

Critical care medicine
2022

Process, resource and success factors associated with chimeric antigen receptor T-cell therapy for multiple myeloma.

Future oncology (London, England)
2022

Clinical features of, and risk factors for, severe or fatal COVID-19 among people living with HIV admitted to hospital: analysis of data from the WHO Global Clinical Platform of COVID-19.

The lancet. HIV
2022

Impact on blood loss and transfusion rates following administration of tranexamic acid in major oncological abdominal and pelvic surgery: A systematic review and meta-analysis.

Journal of surgical oncology
2022

Availability of active therapeutic hypothermia at birth for neonatal hypoxic ischaemic encephalopathy: a UK population study from 2011 to 2018.

Archives of disease in childhood. Fetal and neonatal edition
2022

Impella 5.0 is associated with a reduction in vasoactive support and improves hemodynamics in cardiogenic shock: A single-center experience.

The International journal of artificial organs
2022

Effect of Antiplatelet Therapy on Survival and Organ Support-Free Days in Critically Ill Patients With COVID-19: A Randomized Clinical Trial.

JAMA
2022

VATA-ADL: The Visual Analogue Test for Anosognosia for Activities of Daily Living.

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists
2022

Impact of Pretransplantation CT on Liver Donation in Potential Deceased Organ Donors.

Journal of the American College of Surgeons
2022

Retrospective Application of Sinusoidal Obstruction Syndrome/Veno-occlusive Disease Diagnostic Criteria in a Pediatric Hematopoietic Stem Cell Transplant Cohort.

Journal of pediatric hematology/oncology
2022

Differential Effects of APOE and Modifiable Risk Factors on Hippocampal Volume Loss and Memory Decline in Aβ- and Aβ+ Older Adults.

Neurology
2022

Visualization-Driven Time-Series Extraction from Wearable Systems Can Facilitate Differentiation of Passive ADL Characteristics among Stroke and Healthy Older Adults.

Sensors (Basel, Switzerland)
2022

Transradial peripheral vascular intervention using Fowler's position and Terumo R2P system for patients with heart failure: two case reports.

Journal of medical case reports
2022

Mortality, In-Hospital Morbidity, Care Practices, and 2-Year Outcomes for Extremely Preterm Infants in the US, 2013-2018.

JAMA
2022

A BAFF ligand-based CAR-T cell targeting three receptors and multiple B cell cancers.

Nature communications
2022

Kinematic Analysis of 360° Turning in Stroke Survivors Using Wearable Motion Sensors.

Sensors (Basel, Switzerland)
2022

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

American journal of medical genetics. Part A
2021

Association Between Increased Seizures During Rewarming After Hypothermia for Neonatal Hypoxic Ischemic Encephalopathy and Abnormal Neurodevelopmental Outcomes at 2-Year Follow-up: A Nested Multisite Cohort Study.

JAMA neurology
2021

Breath and plasma metabolomics to assess inflammation in acute stroke.

Scientific reports
2022

The future of myeloma research in Canada and beyond: results of a James Lind Alliance priority setting partnership.

British journal of haematology
2022

Plaque erosion masquerading as spontaneous coronary artery dissection: A case of sudden coronary death.

Journal of cardiovascular computed tomography
2022

Prognostic Factors Associated With Development of Venous Thromboembolism in Critically Ill Patients-A Systematic Review and Meta-Analysis.

Critical care medicine
2022

SARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study.

Anaesthesia
2022

VTE Prophylaxis in Critically Ill Adults: A Systematic Review and Network Meta-analysis.

Chest
2021

Effects of pre-operative isolation on postoperative pulmonary complications after elective surgery: an international prospective cohort study.

Anaesthesia
2021

Therapeutic Anticoagulation with Heparin in Critically Ill Patients with Covid-19.

The New England journal of medicine
2021

Therapeutic Anticoagulation with Heparin in Noncritically Ill Patients with Covid-19.

The New England journal of medicine
2021

Methyl mercury triggers endothelial leukocyte adhesion and increases expression of cell adhesion molecules and chemokines.

Experimental biology and medicine (Maywood, N.J.)
2021

Lopinavir-ritonavir and hydroxychloroquine for critically ill patients with COVID-19: REMAP-CAP randomized controlled trial.

Intensive care medicine
2021

Outcomes of systemic anticoagulation with bivalirudin for Impella 5.0.

The International journal of artificial organs
2021

Acute right ventricular failure in a patient with nonischemic cardiogenic shock on left-sided mechanical circulatory support.

Journal of cardiac surgery
2021

Macrophage-Produced Peroxynitrite Induces Antibiotic Tolerance and Supersedes Intrinsic Mechanisms of Persister Formation.

Infection and immunity
2021

Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.

JAMA cardiology
2021

Sleep in Aneurysmal Subarachnoid Hemorrhage Patients During Critical and Acute Care.

Dimensions of critical care nursing : DCCN
2021

Impact of Intravenous Antihypertensives on Outcomes Among Hospitalized Patients.

American journal of hypertension
2021

Eruptive Calcified Nodules as a Potential Mechanism of Acute Coronary Thrombosis and Sudden Death.

Journal of the American College of Cardiology
2021

Post-exposure prophylaxis against SARS-CoV-2 in close contacts of confirmed COVID-19 cases (CORIPREV): study protocol for a cluster-randomized trial.

Trials
2021

Lentivirus-mediated gene therapy for Fabry disease.

Nature communications
2021

Association Between Coffee Intake and Incident Heart Failure Risk: A Machine Learning Analysis of the FHS, the ARIC Study, and the CHS.

Circulation. Heart failure
2021

Spatiotemporal analysis of human intestinal development at single-cell resolution.

Cell
2021

Comparison Between Graders in Detection of Diabetic Neovascularization With Swept Source Optical Coherence Tomography Angiography and Fluorescein Angiography.

American journal of ophthalmology
2020

Deficiency of Nrf2 exacerbates white matter damage and microglia/macrophage levels in a mouse model of vascular cognitive impairment.

Journal of neuroinflammation
2020

Optimal VAsopressor TitraTION in patients 65 years and older (OVATION-65): protocol and statistical analysis plan for a randomised clinical trial.

BMJ open
2021

Efficacy and safety of dapagliflozin in acute heart failure: Rationale and design of the DICTATE-AHF trial.

American heart journal
2021

The case for early identification and intervention of chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Kidney international
2020

Comorbidity of Cerebrovascular and Alzheimer's Disease in Aging.

Journal of Alzheimer's disease : JAD
2020

Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.

Clinical genetics
2021

A Translational Model for Venous Thromboembolism: MicroRNA Expression in Hibernating Black Bears.

The Journal of surgical research
2020

Anti-Thrombotic Therapy to Ameliorate Complications of COVID-19 (ATTACC): Study design and methodology for an international, adaptive Bayesian randomized controlled trial.

Clinical trials (London, England)
2020

Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease.

Trials
2020

Provincial Door-to-Needle Improvement Initiative Results in Improved Patient Outcomes Across an Entire Population.

Stroke
2020

B-cell maturation antigen expression across hematologic cancers: a systematic literature review.

Blood cancer journal
2020

Whole-genome sequencing of patients with rare diseases in a national health system.

Nature
2020

Effects of a high-dose 24-h infusion of tranexamic acid on death and thromboembolic events in patients with acute gastrointestinal bleeding (HALT-IT): an international randomised, double-blind, placebo-controlled trial.

Lancet (London, England)
2020

Return on investment of the diabetes foot care clinical pathway implementation in Alberta, Canada.

Diabetes research and clinical practice
2020

Mortality and pulmonary complications in patients undergoing surgery with perioperative SARS-CoV-2 infection: an international cohort study.

Lancet (London, England)
2020

Lack of Flvcr2 impairs brain angiogenesis without affecting the blood-brain barrier.

The Journal of clinical investigation
2020

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.

The Journal of clinical investigation
2020

Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.

Clinical genetics
2020

A Glioma Presenting as a Posterior Circulation Stroke.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2020

UK consensus on pre-clinical vascular cognitive impairment functional outcomes assessment: Questionnaire and workshop proceedings.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism
2020

Early elevation in plasma high-sensitivity troponin T and morbidity after elective noncardiac surgery: prospective multicentre observational cohort study.

British journal of anaesthesia
2020

Prevalence and predictors of elevated central venous pressure and obstructive sleep apnea in patients with lower extremity chronic venous disease.

Journal of vascular surgery. Venous and lymphatic disorders
2020

Incidence and predictors of adherence to sleep apnea treatment in rehabilitation inpatients with acquired brain injury.

Sleep medicine
2020

Five-Year Outcomes of Transcatheter or Surgical Aortic-Valve Replacement.

The New England journal of medicine
2020

A pilot randomized controlled trial of 7 versus 14 days of antibiotic treatment for bloodstream infection on non-intensive care versus intensive care wards.

Trials
2020

Influence of Comorbidity of Cerebrovascular Disease and Amyloid-β on Alzheimer's Disease.

Journal of Alzheimer's disease : JAD
2020

How to Train Your T Cells: Overcoming Immune Dysfunction in Multiple Myeloma.

Clinical cancer research : an official journal of the American Association for Cancer Research
2020

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.

Journal of human genetics
2020

Interaction Between Type 2 Diabetes Prevention Strategies and Genetic Determinants of Coronary Artery Disease on Cardiometabolic Risk Factors.

Diabetes
2020

Healthcare resource utilization and costs in patients with multiple myeloma with and without skeletal-related events.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2019

A 'stroke' of genius: celebrating the 20-year anniversary of the Bernard Sanberg Memorial Award for Brain Repair.

Regenerative medicine
2019

Effects of acellular equine amniotic allografts on the healing of experimentally induced full-thickness distal limb wounds in horses.

Veterinary surgery : VS
2019

Insights From Dynamic Neuro-Immune Imaging on Murine Immune Responses to CNS Damage.

Frontiers in neuroscience
2019

Regression From Prediabetes to Normal Glucose Regulation and Prevalence of Microvascular Disease in the Diabetes Prevention Program Outcomes Study (DPPOS).

Diabetes care
2019

Dulaglutide and cardiovascular outcomes in type 2 diabetes (REWIND): a double-blind, randomised placebo-controlled trial.

Lancet (London, England)
2019

Images in Vascular Medicine. Rat bite fever: A rare case of critical limb ischemia.

Vascular medicine (London, England)
2019

Energy Metabolism in the Failing Right Ventricle: Limitations of Oxygen Delivery and the Creatine Kinase System.

International journal of molecular sciences
2019

Impact of lenalidomide on collected hematopoietic myeloid and erythroid progenitors: peripheral stem cell collection may not be affected.

Leukemia &amp; lymphoma
2019

Adjunctive Intermittent Pneumatic Compression for Venous Thromboprophylaxis.

The New England journal of medicine
2019

Predictive models of surgical site infections after coronary surgery: insights from a validation study on 7090 consecutive patients.

The Journal of hospital infection
2019

Reducing Door-to-Needle Times for Ischaemic Stroke to a Median of 30 Minutes at a Community Hospital.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2019

Feasibility and safety of delivering full-dose anticoagulation therapy in children treated according to Dana-Farber Cancer Institute acute lymphoblastic leukemia consortium therapy protocols.

Pediatric blood &amp; cancer
2019

Blood Pressure Measurement in Severely Obese Patients: Validation of the Forearm Approach in Different Arm Positions.

American journal of hypertension
2018

Effect of Aspirin on Cardiovascular Events and Bleeding in the Healthy Elderly.

The New England journal of medicine
2019

Novel Use of a Nurse-Led Telemedicine Team in Acute Stroke: A Retrospective Review of the Impact on a Regional Health Care System.

Journal of emergency nursing
2020

Medical Comorbidities and Functional Dependent Living Are Independent Risk Factors for Short-Term Complications Following Osteotomy Procedures about the Knee.

Cartilage
2018

Coronary CT Angiography and 5-Year Risk of Myocardial Infarction.

The New England journal of medicine
2018

Astrocyte-specific overexpression of Nrf2 protects against optic tract damage and behavioural alterations in a mouse model of cerebral hypoperfusion.

Scientific reports
2019

Association between age, deprivation and specific comorbid conditions and the receipt of major surgery in patients with non-small cell lung cancer in England: A population-based study.

Thorax
2018

Over- and underestimation of motor ability after a stroke: Implications for anosognosia.

Neuropsychologia
2018

Cardiogenic Shock in the Septic Patient: Early Identification and Evidence-Based Management.

Critical care nursing clinics of North America
2018

Aryl Hydrocarbon Receptor Nuclear Translocator in Vascular Smooth Muscle Cells Is Required for Optimal Peripheral Perfusion Recovery.

Journal of the American Heart Association
2018

Quantitative measurement of lipid rich plaque by coronary computed tomography angiography: A correlation of histology in sudden cardiac death.

Atherosclerosis
2018

Beta1-adrenoceptor antagonist, metoprolol attenuates cardiac myocyte Ca2+ handling dysfunction in rats with pulmonary artery hypertension.

Journal of molecular and cellular cardiology
2019

Gender-based outcome differences for emergency department presentation ofnon-STEMI acute coronary syndrome.

The American journal of emergency medicine
2018

Pathological mechanisms of left main stent failure.

International journal of cardiology
2018

Small vessels, dementia and chronic diseases - molecular mechanisms and pathophysiology.

Clinical science (London, England : 1979)
2018

Testicular torsion in a patient with Ehlers-Danlos syndrome.

BMJ case reports
2018

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Pediatric radiology
2018

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

Molecular genetics &amp; genomic medicine
2018

The economic burden of overactive bladder (OAB) and its effects on the costs associated with other chronic, age-related comorbidities in the United States.

Neurourology and urodynamics
2018

7 versus 14 days of antibiotic treatment for critically ill patients with bloodstream infection: a pilot randomized clinical trial.

Trials
2018

Is there a learning effect when the 6-minute walk test is repeated in people with suspected pulmonary hypertension?

Chronic respiratory disease
2018

Sex-Based Differences in Discharge Disposition and Outcomes for ST-Segment Elevation Myocardial Infarction Patients Within a Regional Network.

Journal of women's health (2002)
2018

Amifostine reduces gastro-intestinal toxicity after autologous transplantation for multiple myeloma.

Leukemia &amp; lymphoma
2017

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Scientific data
2017

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.

Journal of the neurological sciences
2018

Diastolic dysfunction in pulmonary artery hypertension: Creatine kinase and the potential therapeutic benefit of beta-blockers.

Clinical and experimental pharmacology &amp; physiology
2017

Very Late Pathological Responses to Cobalt-Chromium Everolimus-Eluting, Stainless Steel Sirolimus-Eluting, and Cobalt-Chromium Bare Metal Stents in Humans.

Journal of the American Heart Association
2017

IgM Myeloma with Plasma Cell Leukemia: Case Report and Literature Review.

Annals of clinical and laboratory science
2017

Risk of Infective Endocarditis in Patients with End Stage Renal Disease.

Clinical journal of the American Society of Nephrology : CJASN

Associações

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Comunidades

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Doenças 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.

  1. Accounting for non-adherence to assigned antibiotic treatment duration for bloodstream infection (BALANCE): a post-hoc analysis of a randomised clinical trial.
    The Lancet. Infectious diseases· 2026· PMID 41237792mais citado
  2. A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.
    European journal of human genetics : EJHG· 2026· PMID 40133703mais citado
  3. Ultrasonographic Diagnosis of Bilateral Spontaneous Ovarian Hemorrhage in a 7-Year-Old Female Black-and-White Ruffed Lemur (Varecia variegata).
    Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association· 2026· PMID 41787645mais citado
  4. Experiences with real-world teclistamab administration in community and outpatient settings: a mixed-methods study of hematology providers.
    Current medical research and opinion· 2026· PMID 41705734mais citado
  5. ACR Appropriateness Criteria&#xae; Imaging After Liver Transplant.
    Journal of the American College of Radiology : JACR· 2026· PMID 41701129mais citado
  6. Higher-order neuromorphic Ising machines-autoencoders and Fowler-Nordheim annealers are all you need for scalability.
    Nat Commun· 2026· PMID 41991551recente
  7. Respiratory Responses during Therapeutic Positioning in Adults with and without Abdominal Obesity.
    Ethiop J Health Sci· 2025· PMID 41987858recente
  8. Characterization of a Core Fungal Community and Captivity-Induced Gut "Mycobiome" Change in Fowler's Toad (Anaxyrus fowleri).
    Ecol Evol· 2026· PMID 41970365recente
  9. Testicular atrophy rate in single-stage versus two-stage fowler-stephens orchidopexy: a systematic review and meta-analysis.
    Pediatr Surg Int· 2026· PMID 41964663recente
  10. Ramped Position Improves Oxygenation During Mechanical Ventilation for Patients With Severe Obesity.
    Anesth Prog· 2025· PMID 41905394recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:221126(Orphanet)
  2. OMIM OMIM:225790(OMIM)
  3. MONDO:0009168(MONDO)
  4. GARD:17138(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q22965443(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

Síndrome de Fowler
Compêndio · Raras BR

Síndrome de Fowler

ORPHA:221126 · MONDO:0009168
Prevalência
<1 / 1 000 000
Casos
44 casos conhecidos
Herança
Autosomal recessive
CID-10
Q04.8 · Outras malformações congênitas especificadas do encéfalo
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1856972
EuropePMC
Wikidata
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