Introdução
O que você precisa saber de cara
A exencefalia é um tipo de distúrbio cefálico no qual o cérebro está localizado fora do crânio. Essa condição é geralmente encontrada em embriões como um estágio inicial da anencefalia. À medida que uma gravidez exencefálica progride, o tecido neural degenera gradualmente.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 16 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição.
Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity)
Cell membrane
Neural tube defects
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine (PubMed:29891918). Represents a key regulatory connection between the folate and methionine cycles (Probable)
Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe intellectual disability, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders.
Variantes genéticas (ClinVar)
313 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Exencefalia isolada
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
Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.
Maternal diabetes increases the risk of neurodevelopmental alterations in the offspring, yet the molecular links to early corticogenesis remain unclear. During corticogenesis, radial migration is a coordinated process regulated by Reelin signaling and its disruption has been associated with abnormal cortical patterning. We reanalyze dorsal telencephalon transcriptomes from embryonic day 12 (E12) non-neural tube-defect rat embryos to identify canonical pathways perturbed by maternal hyperglycemia. Gene expression profiles from the dorsal prosencephalon at E12 from control and streptozotocin-treated dams (50 mg/kg at E5.5) were interrogated with Ingenuity Pathway Analysis (IPA). We then assessed Reelin pathway components using quantitative reverse transcription polymerase chain reaction (RT-qPCR), immunohistochemistry, and immunoblotting at E12 and E16, and examined postnatal cytoarchitecture/morphology in the primary motor cortex (M1) at postnatal day zero (P0) and P21 using hematoxylin-eosin and Golgi-Cox staining. All analyses excluded embryos with neural tube defects (NTD) to avoid cofounding by gross malformations. IPA revealed Reelin signaling in neurons as the only canonical pathway with a non-zero activation z-score, predicting inhibition in E12 embryos from diabetic rats. Concordantly, protein levels of Reelin (RELN), apolipoprotein E receptor 2/low-density lipoprotein receptor-related protein 8 (ApoER2/LRP8), very low-density lipoprotein receptor (VLDLR), and Disabled Homolog 1 (DAB1) were reduced at E12/E16 (all p < 0.05). N-cadherin (N-CAD) showed disrupted radial localization along the ventricular-pial axis despite unchanged total abundance, consistent with impaired neuron-radial glia adhesion/polarity. Postnatally, the M1 showed increased layer I cellularity, ectopic pyramidal neurons, and aberrant laminar organization. Maternal hyperglycemia is associated with attenuation of the Reelin signaling pathway and N-CAD mislocalization, providing a mechanistic framework for defective neuronal migration and abnormal lamination that persist into early postnatal life. Focusing on NTD-negative embryos isolates the pathway-specific effects of maternal hyperglycemia and nominates Reelin-pathway hypofunction as a candidate driver of altered fetal cortical patterning.
Diagnostic Yield of Post-Mortem Fetal Micro-CT for Central Nervous System Abnormalities.
This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post-mortem micro-focus computed tomography (Micro-CT), independent of whether the abnormality contributed to the main diagnosis or cause of death. We retrospectively analyzed 1200 whole body post-mortem fetal Micro-CT scans in an unselected consecutive cohort between 2017 and 2024. The following categories for CNS abnormalities were used: enlarged cerebral spinal fluid (CSF) spaces, midline abnormalities, neural tube defects, disorders of neuronal proliferation, neuronal migration, and hindbrain development, and other cranial and facial abnormalities. Overall, 78 individual CNS abnormalities were identified in 62/1200 (5.2%) fetuses. The most common CNS abnormalities were neural tube defects (18/78; 23.1%), ventriculomegaly (16/78; 20.5%), and intracranial hemorrhage (12/78; 15.4%). CNS abnormalities were isolated findings in 27/62 (44%) abnormal cases, and part of a wider spectrum of extra-CNS abnormalities in 35/62 (56%) of cases. The commonest extra-CNS association was musculoskeletal (25/59; 42%). Despite significant maceration causing reduced image quality in 408/1200 (34%) cases, Micro-CT gave diagnostic CNS imaging in all 792/1200 (66%) fetuses with low, mild, or moderate maceration (score below 4). Post-mortem Micro-CT imaging can identify a wide range of CNS abnormalities following pregnancy loss in early gestation fetuses, even in the presence of maceration.
Integrating Mathematics into Prenatal Diagnosis-Different Phenotypes of Complex Ventral Wall Malformations Determined by Hierarchical Clustering.
Background/Objectives: To identify distinct sonographic phenotypes of complex malformations of the fetal ventral wall. Methods: We performed a retrospective analysis of ultrasound reports from 160 fetuses diagnosed with complex ventral wall defects at a single tertiary referral center between 1997 and 2021. Agglomerative hierarchical clustering was applied to identify distinct sonographic phenotypes based on the level of the ventral wall defect and associated anomalies. Results: Ventral wall defects involved the abdominal wall in 150 cases, the thoracic wall in 42 cases, and the pelvic wall in 28 cases, either in isolation or in combination. Open neural tube defects were present in 58 fetuses (36.3%), spinal defects in 110 fetuses (68.8%), and limb anomalies in 45 fetuses (28.1%). Additional anomalies were identified in 38 fetuses (23.8%), including cardiac anomalies in 18 cases (11.3%). Amniotic bands were observed in seven cases (4.4%). Using agglomerative hierarchical clustering, five groups of fetuses with differing numbers of observations were identified (cluster 1, n = 104; cluster 2, n = 5; cluster 3, n = 30; cluster 4, n = 10; cluster 5, n = 11). The silhouette score of the clustering model was 0.3285. The most discriminative features for each cluster, expressed as feature importance values, were as follows: kyphoscoliosis for cluster 1 (0.924), pelvic wall defect for cluster 2 (0.852), ectopia cordis for cluster 3 (0.662), limb anomalies for cluster 4 (0.767), and spina bifida for cluster 5 (0.691). Conclusions: Complex malformations of the fetal ventral wall are associated with a wide spectrum of additional anomalies. Hierarchical clustering identified five distinct sonographic phenotypes of complex ventral wall defects, highlighting the heterogeneity of these conditions.
Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis.
To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) - acrania-exencephaly-anencephaly sequence (AEAS), spinal dysraphism, and encephalocele - using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct phenotypes. We retrospectively reviewed all fetuses diagnosed prenatally with isolated NTDs at Tel Aviv Sourasky Medical Center between September 2020 and July 2025. Detailed anatomical ultrasound excluded additional malformations. Chromosomal microarray (CMA) and trio-based ES were performed using standard protocols. Variant interpretation followed ACMG/AMP guidelines, integrating phenotypic concordance via Human Phenotype Ontology (HPO) terms. The cohort comprised 23 fetuses: 10 with AEAS (9 acrania, 1 exencephaly), 8 with spinal dysraphism (5 myelomeningocele, 3 meningocele), and 5 with encephalocele. Across the cohort, exome sequencing yielded pathogenic or likely pathogenic variants in 26% (6/23) of cases and a variant of uncertain significance in 4% (1/23). Detection rates varied by subtype, highest in encephalocele (60%), followed by spinal dysraphism (25%) and AEAS (20%). However, these findings reflect diagnostic associations rather than definitive causal relationships. Identified genes included PPP1R12A, ARHGAP35, PIEZO2, KIAA0586, TSC2, and CLCN7, representing diverse pathways in cytoskeletal organization, ciliary function, mechanotransduction, and mTOR signaling. Notably, recurrent PPP1R12A variants were found in 2 fetuses: one with AEAS and one with encephalocele, suggesting a shared morphogenetic pathway affecting cranial fold formation and mesenchymal remodeling. Our findings indicate that these distinct types of NTD, namely AEAS, spinal dysraphism, and encephalocele, may represent partially divergent embryologic and genetic entities rather than a single phenotypic continuum. Subtype-specific analysis revealed differing molecular patterns, emphasizing the value of trio-based ES in elucidating the etiology of isolated NTDs. Larger studies are needed to refine detection rates and expand our understanding of the genetic architecture underlying these distinct malformations.
Mortality Through 2021 Among Persons Born With Spina Bifida in Metropolitan Atlanta, 1981-2018.
Information on prevalence, predictors, and causes of mortality is sparse among persons born with spina bifida (SB), especially adults over age 25 years. Individuals with SB born in 1981-2018 were identified in surveillance data from the Metropolitan Atlanta Congenital Defects Program, an active population-based birth defects surveillance system, and linked with Georgia death certificates (1981-2021). Survival probability was assessed using Kaplan-Meier curves. Selected factors were examined using Cox proportional hazards regression, estimating crude (cHR) and adjusted hazards ratios (aHR) and 95% confidence intervals (CIs). Of 458 infants born with SB, 341 met eligibility criteria; 18% (n = 61) died. The overall 25-year and 35-year survival probabilities were 82% and 75%, respectively. Survival improved between 1981-1999 and 2000-2018 for individuals with isolated SB (p < 0.05), but not for those with multiple defects (p = 0.41). Preterm birth (aHR = 2.28; 95% CI = 1.32, 3.95), having multiple major birth defects (aHR = 2.07; 95% CI = 1.04, 4.13), or upper-level spinal lesion (aHR = 3.86; 95% CI = 2.23, 6.69) was associated with increased mortality risk. SB was often listed as the cause of death, even among adults; respiratory and cardiovascular conditions and infections were other commonly listed causes for mortality after infancy. Survival for individuals with isolated SB improved over time; further improvements might be achieved by targeting age-specific risk factors in clinical and public health settings.
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Diagnostic Yield of Post-Mortem Fetal Micro-CT for Central Nervous System Abnormalities.
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Journal of clinical medicineExome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis.
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Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEffect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.
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Journal of neurosurgery. PediatricsBirth prevalence and parental stress associated with neural tube defects in Amhara's public comprehensive specialized hospitals, Ethiopia, 2024.
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World neurosurgeryTwo differential cavities in syringomyelia of pediatric Chiari I malformation presenting with unilateral foot drop.
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Clinical EEG and neurosciencePathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.
Archives of gynecology and obstetricsHyperglycemia affects neuronal differentiation and Nestin, FOXO1, and LMO3 mRNA expression of human Wharton's jelly mesenchymal stem cells of children from diabetic mothers.
Biochemical and biophysical research communicationsFolate Receptor Alpha is Decreased in Pregnancy Affected with Fetal Neural Tube Defect: A Case Control Study.
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Journal of pediatric urologyNon-Isolated Neural Tube Defects with Comorbid Malformations Are Responsive to Population-Level Folic Acid Supplementation in Northern China.
BiologyTripeptide Leu-Pro-Phe from Corn Protein Hydrolysates Attenuates Hyperglycemia-Induced Neural Tube Defect in Chicken Embryos.
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Journal of nutritional scienceDetection, isolation, and characterization of a novel impurity from several folic acid products.
Journal of Zhejiang University. Science. BLarge Isolated Nasoorbital Type of Frontoethmoidal Encephalomeningocele: A Case Report With Long-Term Follow-up.
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Cardiology in the youngUtility of 3D-T2 space MRI sequence in diagnosing a rare cause of lower backache: horseshoe cord and meningocoele manqué in a case of composite split cord malformation.
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Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryImpact of Gestational Age on Neuroprotective Function of Placenta-Derived Mesenchymal Stromal Cells.
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Neuro-ChirurgieComparison of Outcomes of Surgical Repair of Spontaneous Temporal Bone CSF Leaks and Encephaloceles Using Bone Cement and Autologous Material.
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EJIFCCNew Association between Idiopathic Scoliosis and Luckenschadel Skull (Lacunar Skull).
Medical principles and practice : international journal of the Kuwait University, Health Science CentreImplementation Process and Evolution of a Laparotomy-Assisted 2-Port Fetoscopic Spina Bifida Closure Program.
Fetal diagnosis and therapyIsolated fetal neural tube defects associate with increased risk of placental pathology: Evidence from the Collaborative Perinatal Project.
PlacentaBrain Doppler abnormalities in fetuses with open spina bifida.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansLongitudinal Trajectories of Clean Intermittent Catheterization Responsibility in Youths with Spina Bifida.
The Journal of urologyEarly Neonatal Mortality among Babies Born with Spina Bifida in Finland (2000-2014).
American journal of perinatologyBrace treatment for scoliosis secondary to chiari malformation type 1 or syringomyelia without neurosurgical intervention: A matched comparison with idiopathic scoliosis.
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Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDiagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDiagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyNeuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Acta neuropathologica communicationsMigraine in Chiari 1 Malformation: a cross-sectional, single centre study.
Acta neurologica BelgicaPosterior occipital gunshot wound causing orbital roof blow-in fracture with encephalocele.
International journal of oral and maxillofacial surgeryIncidence and patterns of abnormal corpus callosum in fetuses with isolated spina bifida aperta.
Prenatal diagnosisA rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyEnhancement of transamniotic stem cell therapy for spina bifida by genetic engineering of donor mesenchymal stem cells with an Fgf2 transgene.
Journal of pediatric surgeryMaternal ethnicity and the prevalence of British pregnancies affected by neural tube defects.
Birth defects researchIncidence of neural tube defects and their risk factors within a cohort of Moroccan newborn infants.
BMC pediatricsOpen Fetal Microneurosurgery for Intrauterine Spina Bifida Repair.
Fetal diagnosis and therapyNeurodevelopmental outcome of children born with an isolated atretic cephalocele.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCharacterization of Risk Factors for Neural Tube Defects: A Case-Control Study in Bogota and Cali, Colombia, 2001-2018.
Journal of child neurologyIllness Experiences of Adults with Spina Bifida: Protecting the Whole Self.
Asian nursing researchChiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Human geneticsDelayed recurrence of spontaneous intracranial hypotension syndrome mimicking a Chiari I malformation: Case report with a review of the literature.
Neuro-ChirurgieRisk of congenital birth defects during COVID-19 pandemic: Draw attention to the physicians and policymakers.
Journal of global healthVariable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
European journal of ophthalmologyAbnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy.
Journal of clinical medicineCharacteristics Associated With Depression, Anxiety, and Social Isolation in Adults With Spina Bifida.
UrologyFirst report of Vibrio cholerae O9, novel st520, isolated from a child with bacteraemia-associated sepsis.
Indian journal of medical microbiologyPrevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Jalisco, Mexico).
Congenital anomaliesHypogonadism: Is It Always Hypogonadotropic in an Adolescent With a Cleft Palate? A Surprising Case of Klinefelter Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPrenatal diagnosis of frontal encephalocele.
Journal of clinical ultrasound : JCUNeurogenic Cough Associated with Hyperintensity in Dorsal Medulla: Case Report and Anatomical Discussion.
World neurosurgeryFKBP8 variants are risk factors for spina bifida.
Human molecular geneticsExperience with revision craniovertebral decompression in adult patients with Chiari malformation type 1, with or without syringomyelia.
British journal of neurosurgeryEmergency Department Visits Following Suboccipital Decompression for Adult Chiari Malformation Type I.
World neurosurgeryPostoperative fever workup in pediatric neurosurgery patients.
Journal of neurosurgery. Pediatrics[Clinical and radiological rationale for distinguishing subtypes of primary Chiari I malformation].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaAssociation Between Congenital Cytomegalovirus and the Prevalence at Birth of Microcephaly in the United States.
JAMA pediatricsPrevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016.
American journal of medical genetics. Part ANew surgical paradigm for open neural tube defects.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRevisiting the Resolution of Chiari Malformation in Nonsyndromic Craniosynostosis: A Case of Posterior Cranial Vault Reconstruction in Secondary Pan-Suture Synostosis.
World neurosurgeryCongenital Anterior Skull Base Encephaloceles: Long-Term Outcomes After Transnasal Endoscopic Reconstruction.
World neurosurgeryFetal Open and Closed Spina Bifida on a Routine Scan at 11 Weeks to 13 Weeks 6 Days.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineUpdate on the gestational effects of maternal hyperthermia.
Birth defects researchHigh Prevalence of Gram-Negative Rod and Multi-Organism Surgical Site Infections after Pediatric Complex Tethered Spinal Cord Surgery: Preliminary Report from a Single-Center Study.
Pediatric neurosurgeryUnderstanding the Mothers of Children with Spina Bifida and Hydrocephalus in Tanzania.
World neurosurgeryNeural Tube Defects and Associated Anomalies before and after Folic Acid Fortification.
The Journal of pediatricsPrenatal diagnosis of a rare isolated thoracic-type ectopia cordis with complete form: a case report.
Journal of ultrasoundPosterior Cranial Fossa Maldevelopment in Infants with Repaired Open Myelomeningoceles: Double Trouble or a Dynamic Process of Posterior Cranial Fossa Abnormalities?
World neurosurgeryConcomitant Heterotopic Pancreas and Endometriosis as a Rare Cause of Ileo-Ileal Intussusception in a Young Woman with Spina Bifida: Case Report and Literature Review.
Digestive diseases and sciencesAmniotic band syndrome associated with limited dorsal myeloschisis: a case report of an unusual case and review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe N-terminus of MTRR plays a role in MTR reactivation cycle beyond electron transfer.
Bioorganic chemistrySevere and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.
American journal of obstetrics and gynecologyRepair of a Temporal Bone Encephalocele With the Surgical Exoscope.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologySyringomyelia in Patient with Concurrent Posttraumatic Hydrocephalus and Tethered Spinal Cord: Implications for Surgical Management.
World neurosurgeryMaternal Folic Acid Supplementation Mediates Offspring Health via DNA Methylation.
Reproductive sciences (Thousand Oaks, Calif.)Acute presentation of Chiari 1 malformation in children.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryBilateral Bochdalek Hernias Associated with Arnold-Chiari I Malformation.
Case reports in radiologyA perspective in the management of myelomeningocoele in the KwaZulu-Natal Province of South Africa.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDecreased placental folate transporter expression and activity in first and second trimester in obese mothers.
The Journal of nutritional biochemistryAmylase concentration and activity in the amniotic fluid of fetal rats with retinoic acid induced myelomeningocele.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansRetrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.
American journal of medical genetics. Part ANeed for botulinum toxin injection and bladder augmentation after isolated bladder outlet procedure in pediatric patients with myelomeningocele.
Journal of pediatric urologyRisk of Stillbirth for Fetuses With Specific Birth Defects.
Obstetrics and gynecologyAssociation between maternal pregestational diabetes mellitus and spina bifida: A population-based case-control study, Finland, 2000-2014.
Birth defects researchStreptococcus Oralis meningitis from right sphenoid Meningoencephalocele and cerebrospinal fluid leak.
BMC infectious diseasesLaboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine : official journal of the American College of Medical GeneticsXq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.
Hormone research in paediatricsSurgical Repair of an Occipital Meningocele in a Foal.
Journal of equine veterinary scienceEfficacy of Periconceptional High-Dose Folic Acid in Isolated Orofacial Cleft Prevention: A Systematic Review.
Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of IndiaReversible Progressive Multiple Cranial Nerve Paresis in the Isolated Fourth Ventricle following Placement of Fourth Ventricle Shunt: Case Report and Review of the Literature.
Pediatric neurosurgeryBioengineering and in utero transplantation of fetal skin in the sheep model: A crucial step towards clinical application in human fetal spina bifida repair.
Journal of tissue engineering and regenerative medicine[Multiple stones of the prostatic urethra associated with anejaculation revealing spinal dysraphism such as tethered cord syndrome at the base of the spinal canal in a young man: about an exceptional case].
The Pan African medical journalA Case of Sulfhemoglobinemia Secondary to a Urinary Tract Infection.
Journal of pediatric hematology/oncologyPeriumbilical swelling, erythema, and discharge in a girl: Answers.
Pediatric nephrology (Berlin, Germany)Periumbilical swelling, erythema, and discharge in a girl: Questions.
Pediatric nephrology (Berlin, Germany)Chiari Type I Malformation with Syringomyelia Presenting with Isolated Hemi-anhidrosis: Report of a Rare Case.
Neurology IndiaBirth defects in Brazil: Outcomes of a population-based study.
Genetics and molecular biologyIn Utero Amniotic Fluid Stem Cell Therapy Protects Against Myelomeningocele via Spinal Cord Coverage and Hepatocyte Growth Factor Secretion.
Stem cells translational medicineSouth African adolescents living with spina bifida: contributors and hindrances to well-being.
Disability and rehabilitationScoliosis in patients with Chiari malformation type I.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Prenatal diagnosisUltrasound to Evaluate Neonatal Spinal Dysraphism: A First-Line Alternative to CT and MRI.
Journal of neuroimaging : official journal of the American Society of NeuroimagingAutopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyIsolated spina bifida aperta: prenatal ventriculomegaly as an ultrasound prognostic marker.
Prenatal diagnosisUnilateral vagus nerve lesion revealing clival meningocele.
European annals of otorhinolaryngology, head and neck diseasesComparison of brain microstructure after prenatal spina bifida repair by either laparotomy-assisted fetoscopic or open approach.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyClubfoot and Tethered Cord Syndrome: Results of Treatment With the Ponseti Method.
Journal of pediatric orthopedicsPituitary Adenoma Concomitant with Chiari I Malformation: Case Report and Literature Review.
World neurosurgeryNationwide survey of fetal myelomeningocele in Japan: Background for fetal surgery.
Pediatrics international : official journal of the Japan Pediatric SocietyArthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population.
The American journal of case reportsDo we need to scan the whole neuraxis for coexistent abnormalities in children with surgically treated occult spinal dysraphism?
ANZ journal of surgeryAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.
- Diagnostic Yield of Post-Mortem Fetal Micro-CT for Central Nervous System Abnormalities.
- Integrating Mathematics into Prenatal Diagnosis-Different Phenotypes of Complex Ventral Wall Malformations Determined by Hierarchical Clustering.
- Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis.
- Mortality Through 2021 Among Persons Born With Spina Bifida in Metropolitan Atlanta, 1981-2018.
- Simplified nutritional and inflammatory indicators for long-term survival from all-cause mortality in maintenance hemodialysis.
- Self-Disproportionation-Induced H-Adsorption/Desorption Zones in Amorphous Nickel Boride Cocatalyst for Efficient Photocatalytic Hydrogen Evolution.
- Isolated Paramedian Lower Lip Cleft: A Case of a Rare Form of a 28-29 Tessier Cleft.
- Integrating Space Sexology Into Long-Duration Mission Architecture: A Five-Pillar Operational Framework.
- Diffuse Gastrointestinal Polyposis Revealing Mantle Cell Lymphoma: A Case Highlighting a Diagnostic Pitfall.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:563612(Orphanet)
- MONDO:0035402(MONDO)
- GARD:22255(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
