Introdução
O que você precisa saber de cara
Iniencefalia é um tipo raro de malformação cefálica caracterizada por três características comuns: um defeito no osso occipital, espinha bífida das vértebras cervicais e retroflexão da cabeça sobre a coluna cervical. O óbito fetal é o desfecho mais comum, com alguns exemplos raros de nascimento com vida, após os quais a morte invariavelmente ocorre em pouco tempo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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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 — Iniencefalia fechada
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
Central hypoventilation and choking episodes revealing Chiari malformation type I.
Este artigo descreve o caso de uma mulher que, após anos de engasgos inexplicáveis, dores de cabeça crônicas e a descoberta incidental de dessaturações graves de oxigênio, foi finalmente diagnosticada com Malformação de Chiari Tipo I (MCTI) após revisão de exames de imagem antigos. O caso ressalta que a MCTI pode causar sintomas respiratórios semelhantes à síndrome de hipoventilação central (Maldição de Ondine), alertando médicos sobre a importância de considerar anomalias cerebrais estruturais em pacientes com disfunção respiratória ou engasgos persistentes sem causa aparente.
🇧🇷 traduzidoTemporal Gatekeeping Role of Lmx1 during chordate neural tube morphogenesis.
Este estudo, relevante para a compreensão de condições como a iniencefalia fechada, investiga o complexo processo de fechamento do tubo neural, essencial para a formação do sistema nervoso. Usando um modelo animal simplificado, ele revela que o fator de transcrição Lmx1 é fundamental para a correta organização e progressão do fechamento do tubo neural. Essa descoberta sugere um papel antes desconhecido para Lmx1 na morfogênese do tubo neural em humanos, abrindo novas vias para entender as causas genéticas dessas malformações e, potencialmente, desenvolver estratégias de prevenção ou diagnóstico.
🇧🇷 traduzidoAdvances in the prevention and prenatal treatment of spina bifida.
Este artigo destaca avanços cruciais na prevenção e tratamento da espinha bífida, uma malformação congênita que causa múltiplos desafios. Para pacientes e médicos, é essencial saber que a suplementação com ácido fólico reduziu drasticamente novos casos e que diagnósticos pré-natais mais precisos permitem intervenções oportunas. A cirurgia intrauterina evoluiu significativamente, com técnicas inovadoras que prometem resultados otimizados para a mãe e a criança, minimizando riscos e maximizando a saúde e qualidade de vida a longo prazo.
🇧🇷 traduzidoAn NP-led bowel management program for patients with spina bifida.
Este programa de manejo intestinal, liderado por uma Enfermeira Especializada (NP), oferece cuidados individualizados e holísticos para crianças e jovens (0-22 anos) com disfunção intestinal neurogênica, frequentemente associada à espinha bífida. Focado na acessibilidade e educação familiar, o programa desenvolve planos de tratamento personalizados que visam melhorar a qualidade de vida, promover a autogestão e reduzir complicações como incontinência fecal, hospitalizações e visitas de emergência.
🇧🇷 traduzidoIntegrated neuroimaging approach to the Chiari Malformation Spectrum from type 0 to 1.5: correlations between CSF flow impedance, tonsillar blackout sign, Obex position, and Clinico-anatomical features.
Este estudo sobre a Malformação de Chiari (tipos 0 a 1.5) enfatiza que a avaliação precisa ir além da simples descida das amígdalas, incorporando múltiplos sinais de ressonância magnética (MRI). Tipos mais avançados de Chiari e uma posição baixa do óbex foram associados a maior impedância do fluxo de LCR, maior gravidade do sinal de "blackout tonsilar" (TBS) e maior incidência de siringomielia, embora dores comuns não tenham mostrado correlação significativa com o tipo de Chiari ou siringomielia. Para pacientes e médicos, isso significa que um diagnóstico e manejo mais precisos exigem uma análise individualizada e abrangente de diversos marcadores radiológicos, melhorando a estratificação de risco.
🇧🇷 traduzidoPublicações recentes
Surgical Approach to a Rare Forearm Morel-Lavallée Lesion: Diagnostic and Management Challenges in the Upper Extremity.
Functional and Radiological Outcomes of Distal Femur Fractures Treated With a Combination of Supracondylar Nails and Lateral Condylar Locking Plates.
Correlational and Regression-Based Insights into Shoulder and Core Stability Tests in Amateur Athletes: Reference Values and Sex-Based Comparison.
Global scale-free brain activity as a potential neural signature of visual information processing in aging.
A finite element computational framework coupling four-chamber heart mechanics with the systemic and pulmonary circulations.
📚 EuropePMCmostrando 196
Temporal Gatekeeping Role of Lmx1 during chordate neural tube morphogenesis.
bioRxiv : the preprint server for biologyAdvances in the prevention and prenatal treatment of spina bifida.
Discoveries (Craiova, Romania)An NP-led bowel management program for patients with spina bifida.
Journal of pediatric urologyIntegrated neuroimaging approach to the Chiari Malformation Spectrum from type 0 to 1.5: correlations between CSF flow impedance, tonsillar blackout sign, Obex position, and Clinico-anatomical features.
Journal of neuroradiology = Journal de neuroradiologieBilateral anterior sacral meningoceles in pregnancy without sacral anomaly: a case report of a rare clinical entity.
Archives of gynecology and obstetricsCentral hypoventilation and choking episodes revealing Chiari malformation type I.
BMJ case reportsPrenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.
Prenatal diagnosisGPR161-GLI3 repressor signaling at cilia directs apical constriction and cell fate during cranial neural tube closure.
Development (Cambridge, England)Terminal myelocystocele and the chiari connection: a case-based review with a novel pathophysiological hypothesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySevere myelomeningocele in the fourth pregnancy of a 29-year-old woman: a case report.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieSpinal dysraphism in adulthood: do they have different symptoms and outcomes? Evaluating the impact on the Quality of Life and the need for transitional care from pediatric to adult population.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLong-term outcomes of children born with neural-tube defects in Botswana.
BMC pediatricsMaternal Immune Stimulation With Interferon-Gamma Limits Embryonic Valproic Acid Induced Apoptotic Gene Expression.
Birth defects researchEvaluation of Inclusion Cysts and Granulation Tissue After Prenatal and Postnatal Myelomeningocele Repair.
Turkish neurosurgeryPredictors of Postoperative Incisional Cerebrospinal Fluid Leak of Closed Spinal Dysraphism in Different Age Groups.
World neurosurgeryDelayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.
CureusIn-hospital unexpected cerebral herniation-New neurosurgical quality control standards: A case report.
MedicineDual-patterned pluripotent stem cells self-organize into a human embryo model with extended anterior-posterior patterning.
bioRxiv : the preprint server for biologyMicrosurgical repair of lumbar Segmental Myelocystocele and spinal cord Untethering: 2-Dimensional operative video.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaEmbryotoxic Effects of Sunset Yellow in Congenital Neural Tube Defect Formation in Early-Stage Chick Embryos: A Histopathological Study.
Turkish neurosurgeryEvaluation of NOS3 894G>T (p.Glu298Asp) Variant as Risk Factor for Open Neural Tube Defects in Infants from Western Mexico.
Genetic testing and molecular biomarkersComparative diagnostic accuracy of ultrasound and magnetic resonance imaging for spinal dysraphism in infants: insights from a single-center study.
Radiologie (Heidelberg, Germany)Development of a machine learning model for predicting renal damage in children with closed spinal dysraphism.
BMC pediatricsClosing the Gap: Prenatal Repair and the Reimagined Future of Spina Bifida.
Clinical obstetrics and gynecologyTargeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models.
Birth defects researchClinical impact of fetal sac size on closed neural tube defects.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrenatal care utilization for fetuses with spina bifida in California.
BMC pregnancy and childbirth[Intracranial hypotension and secondary Chiaris malformation caused by spontaneous spinal fluid leakage].
Ugeskrift for laegerThe repair of large meningomyelocele defects using perforator artery-based non-island fasciocutaneous flaps.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFetal imaging approach to spinal dysraphism diagnosis.
Pediatric radiologyPaediatric follow-up and care for urological dysfunction in cases of spina bifida: A monocentric retrospective French cohort study of 40 cases between 2004-2022.
The French journal of urology[Limited dorsal myeloschisis: From antenatal screening to postnatal evolution. About a series of cases from the Grand Est, Bourgogne and Franche-Comté].
Gynecologie, obstetrique, fertilite & senologieSafety and Effectiveness of Fetal Myelomeningocele Repair: Case Series Analysis Using an Exteriorized Uterus and a Fetoscopic Approach.
Fetal diagnosis and therapySaccular Limited Dorsal Myeloschisis: A Distinct Prenatal Entity.
Fetal diagnosis and therapyAssociation between orthopedic manifestations and tethered cord release in patients with spina bifida: a survival analysis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEstablishing dorsal-ventral patterning in human neural tube organoids with synthetic organizers.
Cell stem cellPain characteristics and impact of pain in individuals with spina bifida: Systematic review and meta-analysis.
Disability and health journalFold-and-fuse neurulation in zebrafish requires vangl2.
Developmental biologyA rare case of retained medullary cord with sacral subcutaneous meningocele and thoracic arachnoid cyst.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCerebral Edema in Acute Liver Failure: Insights From Autopsy.
Liver international : official journal of the International Association for the Study of the LiverOutcome of Children With Prenatally Diagnosed Saccular Limited Dorsal Myeloschisis: The Importance of Accurate Diagnosis.
Prenatal diagnosisA single-cell atlas of spatial and temporal gene expression in the mouse cranial neural plate.
eLifeAmniotic Membrane Interposition Graft for Open Fetal Myelomeningocele Repair.
Operative neurosurgery (Hagerstown, Md.)Rhabdomyomatous mesenchymal hamartoma in association with spinal dysraphism in an infant.
Clinical neuropathologyThe contribution of de novo coding mutations to meningomyelocele.
NatureDenervation of rectus capitis posterior minor as neglected factor in Chiari malformation type I revealed by double blinded prospective study.
Scientific reportsA Sandwich-Type Double-Layer Amniotic Membrane Graft for Repairing Myopic Macular Hole-Related Retinal Detachment in a Child with Knobloch Syndrome.
Turkish journal of ophthalmologyLate Prenatal Development of Hindbrain Herniation in Open Spina Bifida.
Fetal diagnosis and therapySpinal rhabdomyosarcoma in a child at the site of a lumbosacral lipoma: a rare entity.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRisk factors of the appearance of anencephaly in Tunisia.
La Tunisie medicaleFolic Acid Prevents High-Fat Diet-Induced Postpartum Weight Retention in Rats, Which Is Associated with a Reduction in Endoplasmic Reticulum Stress-Mediated Hepatic Lipogenesis.
NutrientsProof of concept testing of a vascular closure device for use in fetal surgery.
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 ObstetriciansOxidative stress and apoptosis of the spinal cord in a rat model of retinoic acid-induced neural tube defects.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceImage characteristics of retained medullary cord in secondary neurulation arrest: an observational study.
Scientific reportsThe Effect of Detethering Surgery on the Bladder Function and Psychology of Children with Primary Tethered Cord Syndrome.
International braz j urol : official journal of the Brazilian Society of UrologyA Single-Centre Analysis of Surgical Techniques for Myelomeningocele Closure: Methods, Outcomes, and Complications.
Clinics and practicePacinioma of Lumbosacral Skin in Closed Spinal Dysraphism.
Journal of cutaneous pathologyAmniotic membrane graft for persistent macular hole following retinal detachment repair in Knobloch syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusEthionine-induced S-adenosylmethionine deficiency suppressed H3K27me3 and cell differentiation during neural tube development in mice.
Journal of cellular physiologyTethered cord prevalence among patients with prenatal or postnatal myelomeningocele repair.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMethylenetetrahydrofolate reductase (MTHFR) polymorphisms in andrology-a narrative review.
Translational andrology and urologyInfluence of different forms of folic acid supplementation on pregnancy outcomes under various exposure factors.
Technology and health care : official journal of the European Society for Engineering and MedicineUse of 'stacked' dermal template: Biodegradable temporising matrix to close a large myelomeningocele defect in a newborn.
Scars, burns & healingRadiological findings in a case of congenital lumbar herniation of the kidney with a spinal tube defect.
BMJ case reportsTo shunt or not to shunt when closing myelomeningocele? A systematic review and meta-analysis of simultaneous versus delayed ventriculoperitoneal shunt placement in neonates undergoing myelomeningocele closure.
Journal of neurosurgery. PediatricsWhen all that should close remains open: a tale of gastroschisis, exstrophy of bladder, spina bifida and limb defects.
BMJ case reportsPrenatal Neurosurgical Counseling for Myelomeningocele and Treatment-Determining Factors for Fetal Repair.
Fetal diagnosis and therapyAssociation between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects.
Clinica chimica acta; international journal of clinical chemistryUsability testing of the Set Brave Goals app, a continence goal-selection app for children with spina bifida.
Journal of pediatric urology[Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionImaging Fetal Spine Malformations in the Context of In Utero Surgery.
Magnetic resonance imaging clinics of North AmericaEffect of aripiprazole on neural tube development in early chick embryos.
Toxicology and applied pharmacologyAnalysis of long-term family dynamics in mothers who have undergone fetal myelomeningocele surgery using telemedicine: a pilot study.
Revista da Associacao Medica Brasileira (1992)Sleep-disordered breathing on respiratory polygraphy in neonates with spina bifida.
Pediatric pulmonologyGetting to the bottom of why children with spina bifida use the emergency department: A qualitative analysis of parent and stakeholder perspectives.
Journal of pediatric urologyLinguistic, Content and Face Validity of the Swedish Version of a Quality-of-Life Assessment for Children, Teenagers and Adults with Spina Bifida.
International journal of environmental research and public healthPatterns and short term neurosurgical treatment outcomes of neonates with neural tube defects admitted to Felege Hiwot Specialized Hospital, Bahir Dar, Ethiopia.
BMC pediatricsThe impact of a biocellulose-based repair of fetal open spina bifida on the need to untether the cord: is it time to unify techniques for prenatal repair?
Einstein (Sao Paulo, Brazil)Aberrant Dorsal Nerve Root as a Concomitant Cause of Spinal Cord Tethering Associated with a Dorsal Type Lipomyelomeningocele in a Child With Caudal Agenesis.
Nigerian journal of clinical practiceFlap Closure in Neonatal Neural Tube Defects: Challenges in Flap Design and Lessons Learnt.
Journal of Indian Association of Pediatric SurgeonsMirror movements associated with cervical limited dorsal myeloschisis: a unique case study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMultiplexing of TMT labeling reveals folate-deficient diet-specific proteome changes in NTDs.
Frontiers in cell and developmental biologyAssessing developmental neurotoxicity of emerging environmental chemicals using multiple in vitro models: A comparative analysis.
Environmental pollution (Barking, Essex : 1987)In utero Diagnosis of Spinal Dermal Sinus.
Fetal diagnosis and therapyNoncanonical function of folate through folate receptor 1 during neural tube formation.
Nature communicationsThe Aperta type of neural tube defect: The relevant experience in a local community with the diversity of the presentation.
Journal of medicine and lifeLoss of SHROOM3 affects neuroepithelial cell shape through regulating cytoskeleton proteins in cynomolgus monkey organoids.
Zoological researchInpp5e Regulated the Cilium-Related Genes Contributing to the Neural Tube Defects Under 5-Fluorouracil Exposure.
Molecular neurobiologyAn Easy and Effective Method for Evaluating the Position of Conus Medullaris: Counting the Number of Vertebral Ossification Center Below the End of Conus Medullaris.
Ultrasound in medicine & biologyPreconception Counseling and Care.
American family physicianNatural history of Chiari I malformation with syrinx and dilatation of the central canal in the pediatric population: the CHEO experience.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryExencephaly-Anencephaly Sequence Associated with Maxillary Brachygnathia, Spinal Defects, and Palatoschisis in a Male Domestic Cat.
Animals : an open access journal from MDPIFolate deficiency reduced aberrant level of DOT1L-mediated histone H3K79 methylation causes disruptive SHH gene expression involved in neural tube defects.
Epigenetics & chromatinPrenatal diagnosis and postnatal outcome of closed spinal dysraphism.
Prenatal diagnosisEmbryonic exposure to decitabine induces multiple neural tube defects in developing zebrafish.
Fish physiology and biochemistryIntrauterine Correction of Fetal Myelomeningocele Through Minihysterotomy.
World neurosurgeryChiari type III malformation associated with Klippel-Feil syndrome, a case report with a narrative review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development.
Disease models & mechanismsPlasma GDNF levels in spinal dysraphism and its relation with neurological impairment in children: A point of care study.
Journal of pediatric urologyMyelomeningocele Defects Reconstruction With Various Types of Keystone Flaps: An Algorithmic Approach Based on Defect Shape.
The Journal of craniofacial surgeryPrenatal imaging of the normal and abnormal spinal cord: recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee.
Pediatric radiologyUltrasound-Guided Prospective Screening for Spinal Dysraphism in Offspring of Mothers With Pregestational Diabetes: A Pilot Study.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineCaudal Fgfr1 disruption produces localised spinal mis-patterning and a terminal myelocystocele-like phenotype in mice.
Development (Cambridge, England)Effects of sodium fluoride on neural tube development in chick embryos.
Neuro-ChirurgieOrthosis use and ambulation in adults with myelomeningocele after orthotic management from childhood.
Prosthetics and orthotics internationalInvestigation on the status of ultrasonic prenatal screening for fetal closed spina bifida.
Minerva pediatricsParental perception of contrast enhanced voiding ultrasonography urodynamics vs fluoroscopic urodynamics.
Journal of pediatric urologyComparison between MRI and the Combination of 2D and 3D US in the Prenatal Diagnosis of Closed Spina Bifida.
Pediatric neurosurgeryEffect of cervical and lumbosacral spina bifida cystica on volumes of intracranial structures in children.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRole of Magnetic Resonance Imaging in the Screening of Closed Spinal Dysraphism.
Neurologia medico-chirurgicaGastrulation and Split Cord Malformation.
Advances and technical standards in neurosurgeryThe loop-tail mouse model displays open and closed caudal neural tube defects.
Disease models & mechanismsDisruption of Fuz in mouse embryos generates hypoplastic hindbrain development and reduced cranial nerve ganglia.
bioRxiv : the preprint server for biologyMicroRNA-322 overexpression reduces neural tube defects in diabetic pregnancies.
American journal of obstetrics and gynecologyNon-canonical function of folate/folate receptor 1 during neural tube formation.
bioRxiv : the preprint server for biologyProphylactic Spinal Cord Untethering in Children with Spinal Dysraphism Undergoing Thoracolumbar Fusion for Scoliosis.
World neurosurgeryPrenatal Diagnosis of Diastematomyelia: a Case Report and Literature Review.
Reproductive sciences (Thousand Oaks, Calif.)Pacak-Zhuang syndrome: a model providing new insights into tumor syndromes.
Endocrine-related cancerHomocysteine-a retrospective and prospective appraisal.
Frontiers in nutritionThe silent tragic reality of Hidden Hunger, anaemia, and neural-tube defects (NTDs) in India.
The Lancet regional health. Southeast AsiaHomozygous LOXL2 variant in individuals affected by non-syndromic occipital encephalocele.
Birth defects researchEffects of Zinc Oxide Nanoparticles on Neural Tube Development in Early Chicken Embryos.
Turkish neurosurgerySurgical anatomy of the cerebellar tonsils: A cadaveric study.
Clinical anatomy (New York, N.Y.)Spinal dysraphism in exstrophy: a single-center study of a 39-year prospective database.
Journal of neurosurgery. PediatricsVentral anchoring of the conus medullaris: a new surgical technique preventing the radiographic recurrence of retethering after surgery for tethered spinal cord.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDouble Lumbar Localization of Myelomeningocele: Case Report.
Pediatric neurosurgeryThe surface ectoderm exhibits spatially heterogenous tension that correlates with YAP localisation during spinal neural tube closure in mouse embryos.
Cells & developmentKnobloch syndrome - a rare collagenopathy, revealing peripheral avascular retina.
Ophthalmic geneticsTransanal irrigation to manage neurogenic bowel in the pediatric population with spina bifida: a scoping review.
Jornal de pediatriaUse of AgNOR staining to determine the effect of metoclopramide on neural tube development in early chick embryos.
Biotechnic & histochemistry : official publication of the Biological Stain CommissionKnowledge of periconceptional folic acid supplementation and associated factors among pregnant women attending antenatal care at public health facilities in Hawassa, South Ethiopia.
Birth defects researchRecursive Feature Elimination-based Biomarker Identification for Open Neural Tube Defects.
Current genomicsNephrogenic rest vs immature teratoma associated with lumbosacral lipomyelomeningocele: a case report and review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFactors Associated with Transfer Distance from Birth Hospital to Repair Hospital for First Surgical Repair among Infants with Myelomeningocele in California.
American journal of perinatologyVitamin B12 deficiency presenting with a pancytopenia in pregnancy.
BMJ case reportsDevelopment of a simulator for training of fetoscopic myelomeningocele surgery.
Prenatal diagnosisEuropean Epidemiological Patterns of Cannabis- and Substance-Related Congenital Neurological Anomalies: Geospatiotemporal and Causal Inferential Study.
International journal of environmental research and public healthSurgical management of anterior sacral meningoceles: an illustrated case series and review of the literature.
British journal of neurosurgeryCorrelation of urodynamic studies and somatosensory evoked potential and their prognostic value in children with closed spinal dysraphism.
Journal of pediatric urologyPrenatal assessment and pregnancy outcomes of foetal low-lying conus medullaris using 3D ultrasound.
BMC pregnancy and childbirthIschemic myelomalacia and closed spinal dysraphism in multiple finishing swine.
Veterinary pathologyBMP/Smad Pathway Is Involved in Lithium Carbonate-Induced Neural-Tube Defects in Mice and Neural Stem Cells.
International journal of molecular sciencesAssociation of In Utero Antipsychotic Medication Exposure With Risk of Congenital Malformations in Nordic Countries and the US.
JAMA psychiatryElectrodiagnosis has a potential to identify neural damage in asymptomatic infants with closed spinal dysraphism.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[Repair Surgery of Myelomeningocele].
No shinkei geka. Neurological surgeryWnt/planar cell polarity signaling controls morphogenetic movements of gastrulation and neural tube closure.
Cellular and molecular life sciences : CMLSGenetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.
Reproductive sciences (Thousand Oaks, Calif.)Prenatal intracranial hypotension syndrome in congenital cephalocele: Insights into pathophysiologic mechanisms and importance of defect coverage.
Prenatal diagnosisHigh Folate, Perturbed One-Carbon Metabolism and Gestational Diabetes Mellitus.
NutrientsIn vivo high-content imaging and regression analysis reveal non-cell autonomous functions of Shroom3 during neural tube closure.
Developmental biologyDisorders of Secondary Neurulation: Suggestion of a New Classification According to Pathoembryogenesis.
Advances and technical standards in neurosurgeryClosed spinal dysraphism-lipomyelocele in an 18-year-old male.
The Pan African medical journalManagement of Adult Chiari I Patients Based on CSF Flow Magnetic Resonance Imaging: Experience of Two Neurosurgical Centers.
Journal of neurological surgery. Part A, Central European neurosurgeryLumbar paravertebral tumor in a newborn: congenital lipomatous nevus.
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaMyelomeningocele Including Fetal Prescription.
Pediatrics in reviewReliability and Agreement in the Cerebellar Tonsil Tip Localization: Two Methods Using the McRae Line Concept in MRI.
World neurosurgeryClosing the Gap: Bridging Peripheral Sensory Nerve Defects with a Chitosan-Based Conduit a Randomized Prospective Clinical Trial.
Journal of personalized medicinePrevalence and risk factors for scoliosis in adults with closed and open spina bifida: A large, cross-sectional study.
Annals of physical and rehabilitation medicineAvoiding the antenatal counselling faux pas: bridging the gap between prenatal prognostication and postnatal outcome of closed spina bifida.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRotation Advancement Keystone Flap for Closure of Large Myelomeningocele Defects.
Annals of plastic surgeryTrends and influencing factors of perinatal birth defects in Huai'an from 2008 to 2020.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesFinancial toxicity among individuals with spina bifida and their families: A qualitative study and conceptual model.
Journal of pediatric urologyAnalysis of Genes Associated with Both Neural Tube Defects and Neuroectodermal Tumors.
Medical science monitor : international medical journal of experimental and clinical researchEmbryonic Hypotaurine Levels Contribute to Strain-Dependent Susceptibility in Mouse Models of Valproate-Induced Neural Tube Defects.
Frontiers in cell and developmental biologyRetained Medullary Cord Associated with Terminal Myelocystocele and Intramedullary Arachnoid Cyst.
Pediatric neurosurgeryMaternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study.
Birth defects researchPersisting embryonal infundibular recess (PEIR) and transsphenoidal-transsellar encephaloceles: distinct entities or constituents of one continuum?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryExpanding the clinical phenotype of FGFR1 internal tandem duplication.
Cold Spring Harbor molecular case studiesTwo-Photon Cell and Tissue Level Laser Ablation Methods to Study Morphogenetic Biomechanics.
Methods in molecular biology (Clifton, N.J.)Early prenatal diagnosis of an atypical phenotype of sacral spina bifida.
Journal of medicine and lifeReconstruction of Large Meningomyelocele Defects with Bipedicled Fasciocutaneous Flaps: Technical and Clinical Points.
Turkish neurosurgeryAmniotic fluid-derived stem cell potential for therapeutic and surgical use: A review of the literature.
Prenatal diagnosisPrevalence of anencephaly in Africa: a systematic review and meta-analysis.
Scientific reportsBack to the Beginning: An Algorithmic Approach to Neonatal Myelomeningocele Repair.
Annals of plastic surgeryVangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension.
Disease models & mechanismsThorium and fetal neural tube defects: an epidemiological evidence from large case-control study.
Genes and environment : the official journal of the Japanese Environmental Mutagen SocietyThe Myelic Limited Dorsal Malformation: Prenatal Ultrasonographic Characteristics of an Intermediate Form of Dysraphism.
Fetal diagnosis and therapyAssessment of embryo morphology following perinatal exposure to aspirin, ibuprofen and paracetamol using whole embryo culture system.
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 ObstetriciansRisk Factors of Anencephaly: A Case-Control Study in Dessie Town, North East Ethiopia.
Pediatric health, medicine and therapeuticsMultimodality Imaging Evaluation of Fetal Spine Anomalies with Postnatal Correlation.
Radiographics : a review publication of the Radiological Society of North America, IncMicronutrient imbalance and common phenotypes in neural tube defects.
Genesis (New York, N.Y. : 2000)Retained medullary cord and terminal myelocystocele as a spectrum: case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA preliminary investigation of high retinoic acid exposure during fetal development on behavioral competency and litter characteristics in newborn rats.
Brain and behaviorIntrathecal baclofen therapy for severe spasticity in an adult with tethered cord syndrome: a case report.
Journal of medical case reportsPrognostication of the neurological outcome of tethered cord based on intraoperative neuromonitoring findings: how close can we get?
British journal of neurosurgeryMidline sacral meningeal cyst decompression and repair.
Acta neurochirurgicaBrace treatment for scoliosis secondary to chiari malformation type 1 or syringomyelia without neurosurgical intervention: A matched comparison with idiopathic scoliosis.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyMisregulation of cell adhesion molecules in the Ciona neural tube closure mutant bugeye.
Developmental biologyThe Effect of the Number of Open Vertebral Segments on the Prognosis of Newborns with Midline Closure Defect: A Single Surgeon, Single Center Experience.
Turkish neurosurgeryCan ultrasound measurement of bladder wall thickness be a useful adjunct for regular urodynamics in children with spina bifida?
Journal of pediatric urologyIntrauterine fetoscopic closure of myelomeningocele: Clinical case and literature review.
Taiwanese journal of obstetrics & gynecologyEndoscopic transpterygoid approach to repair lateral sphenoid recess cerebrospinal fluid leak by multilayered reconstruction.
European annals of otorhinolaryngology, head and neck diseasesThe enigma of acute worsening after a latent interval in post-operative patients of craniovertebral junction instability.
Clinical neurology and neurosurgeryMagnitude and determinants of neural tube defect in Africa: a systematic review and meta-analysis.
BMC pregnancy and childbirthLow torcular Herophili position and large brainstem-tentorium angle in fetuses with open spinal dysraphism at 11-13 weeks' gestation.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyClinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India.
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 ObstetriciansAssociações
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Comunidades
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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.
- Central hypoventilation and choking episodes revealing Chiari malformation type I.
- Temporal Gatekeeping Role of Lmx1 during chordate neural tube morphogenesis.
- Advances in the prevention and prenatal treatment of spina bifida.
- An NP-led bowel management program for patients with spina bifida.
- Integrated neuroimaging approach to the Chiari Malformation Spectrum from type 0 to 1.5: correlations between CSF flow impedance, tonsillar blackout sign, Obex position, and Clinico-anatomical features.
- Surgical Approach to a Rare Forearm Morel-Lavallée Lesion: Diagnostic and Management Challenges in the Upper Extremity.
- Functional and Radiological Outcomes of Distal Femur Fractures Treated With a Combination of Supracondylar Nails and Lateral Condylar Locking Plates.
- Correlational and Regression-Based Insights into Shoulder and Core Stability Tests in Amateur Athletes: Reference Values and Sex-Based Comparison.
- Global scale-free brain activity as a potential neural signature of visual information processing in aging.
- A finite element computational framework coupling four-chamber heart mechanics with the systemic and pulmonary circulations.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:268366(Orphanet)
- MONDO:0017061(MONDO)
- GARD:20950(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55786772(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
