Raras
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Iniencefalia fechada
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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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q00.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202551 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — 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.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Central hypoventilation and choking episodes revealing Chiari malformation type I.

BMJ case reports2026 Jan 09

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.

🇧🇷 traduzido
#2

Temporal Gatekeeping Role of Lmx1 during chordate neural tube morphogenesis.

bioRxiv : the preprint server for biology2026 Mar 05

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.

🇧🇷 traduzido
#3

Advances in the prevention and prenatal treatment of spina bifida.

Discoveries (Craiova, Romania)2026

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.

🇧🇷 traduzido
#4

An NP-led bowel management program for patients with spina bifida.

Journal of pediatric urology2026 Apr

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.

🇧🇷 traduzido
#5

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.

Journal of neuroradiology = Journal de neuroradiologie2026 Mar

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.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 196

2026

Temporal Gatekeeping Role of Lmx1 during chordate neural tube morphogenesis.

bioRxiv : the preprint server for biology
2026

Advances in the prevention and prenatal treatment of spina bifida.

Discoveries (Craiova, Romania)
2026

An NP-led bowel management program for patients with spina bifida.

Journal of pediatric urology
2026

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.

Journal of neuroradiology = Journal de neuroradiologie
2026

Bilateral anterior sacral meningoceles in pregnancy without sacral anomaly: a case report of a rare clinical entity.

Archives of gynecology and obstetrics
2026

Central hypoventilation and choking episodes revealing Chiari malformation type I.

BMJ case reports
2026

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.

Prenatal diagnosis
2025

GPR161-GLI3 repressor signaling at cilia directs apical constriction and cell fate during cranial neural tube closure.

Development (Cambridge, England)
2025

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 Neurosurgery
2025

Severe 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 embryologie
2025

Spinal 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 Neurosurgery
2025

Long-term outcomes of children born with neural-tube defects in Botswana.

BMC pediatrics
2025

Maternal Immune Stimulation With Interferon-Gamma Limits Embryonic Valproic Acid Induced Apoptotic Gene Expression.

Birth defects research
2025

Evaluation of Inclusion Cysts and Granulation Tissue After Prenatal and Postnatal Myelomeningocele Repair.

Turkish neurosurgery
2025

Predictors of Postoperative Incisional Cerebrospinal Fluid Leak of Closed Spinal Dysraphism in Different Age Groups.

World neurosurgery
2025

Delayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.

Cureus
2025

In-hospital unexpected cerebral herniation-New neurosurgical quality control standards: A case report.

Medicine
2025

Dual-patterned pluripotent stem cells self-organize into a human embryo model with extended anterior-posterior patterning.

bioRxiv : the preprint server for biology
2025

Microsurgical repair of lumbar Segmental Myelocystocele and spinal cord Untethering: 2-Dimensional operative video.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Embryotoxic Effects of Sunset Yellow in Congenital Neural Tube Defect Formation in Early-Stage Chick Embryos: A Histopathological Study.

Turkish neurosurgery
2025

Evaluation of NOS3 894G>T (p.Glu298Asp) Variant as Risk Factor for Open Neural Tube Defects in Infants from Western Mexico.

Genetic testing and molecular biomarkers
2025

Comparative diagnostic accuracy of ultrasound and magnetic resonance imaging for spinal dysraphism in infants: insights from a single-center study.

Radiologie (Heidelberg, Germany)
2025

Development of a machine learning model for predicting renal damage in children with closed spinal dysraphism.

BMC pediatrics
2025

Closing the Gap: Prenatal Repair and the Reimagined Future of Spina Bifida.

Clinical obstetrics and gynecology
2025

Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models.

Birth defects research
2025

Clinical impact of fetal sac size on closed neural tube defects.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Prenatal care utilization for fetuses with spina bifida in California.

BMC pregnancy and childbirth
2025

[Intracranial hypotension and secondary Chiaris malformation caused by spontaneous spinal fluid leakage].

Ugeskrift for laeger
2025

The 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 Neurosurgery
2025

Fetal imaging approach to spinal dysraphism diagnosis.

Pediatric radiology
2025

Paediatric 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
2025

[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 &amp; senologie
2025

Safety and Effectiveness of Fetal Myelomeningocele Repair: Case Series Analysis Using an Exteriorized Uterus and a Fetoscopic Approach.

Fetal diagnosis and therapy
2025

Saccular Limited Dorsal Myeloschisis: A Distinct Prenatal Entity.

Fetal diagnosis and therapy
2025

Association 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 Neurosurgery
2025

Establishing dorsal-ventral patterning in human neural tube organoids with synthetic organizers.

Cell stem cell
2025

Pain characteristics and impact of pain in individuals with spina bifida: Systematic review and meta-analysis.

Disability and health journal
2025

Fold-and-fuse neurulation in zebrafish requires vangl2.

Developmental biology
2025

A 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 Neurosurgery
2025

Cerebral Edema in Acute Liver Failure: Insights From Autopsy.

Liver international : official journal of the International Association for the Study of the Liver
2025

Outcome of Children With Prenatally Diagnosed Saccular Limited Dorsal Myeloschisis: The Importance of Accurate Diagnosis.

Prenatal diagnosis
2025

A single-cell atlas of spatial and temporal gene expression in the mouse cranial neural plate.

eLife
2025

Amniotic Membrane Interposition Graft for Open Fetal Myelomeningocele Repair.

Operative neurosurgery (Hagerstown, Md.)
2025

Rhabdomyomatous mesenchymal hamartoma in association with spinal dysraphism in an infant.

Clinical neuropathology
2025

The contribution of de novo coding mutations to meningomyelocele.

Nature
2025

Denervation of rectus capitis posterior minor as neglected factor in Chiari malformation type I revealed by double blinded prospective study.

Scientific reports
2025

A Sandwich-Type Double-Layer Amniotic Membrane Graft for Repairing Myopic Macular Hole-Related Retinal Detachment in a Child with Knobloch Syndrome.

Turkish journal of ophthalmology
2025

Late Prenatal Development of Hindbrain Herniation in Open Spina Bifida.

Fetal diagnosis and therapy
2025

Spinal 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 Neurosurgery
2025

Risk factors of the appearance of anencephaly in Tunisia.

La Tunisie medicale
2024

Folic Acid Prevents High-Fat Diet-Induced Postpartum Weight Retention in Rats, Which Is Associated with a Reduction in Endoplasmic Reticulum Stress-Mediated Hepatic Lipogenesis.

Nutrients
2025

Proof of concept testing of a vascular closure device for use in fetal surgery.

The journal of maternal-fetal &amp; 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 Obstetricians
2025

Oxidative 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 Neuroscience
2024

Image characteristics of retained medullary cord in secondary neurulation arrest: an observational study.

Scientific reports
2025

The 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 Urology
2024

A Single-Centre Analysis of Surgical Techniques for Myelomeningocele Closure: Methods, Outcomes, and Complications.

Clinics and practice
2025

Pacinioma of Lumbosacral Skin in Closed Spinal Dysraphism.

Journal of cutaneous pathology
2024

Amniotic 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 Strabismus
2025

Ethionine-induced S-adenosylmethionine deficiency suppressed H3K27me3 and cell differentiation during neural tube development in mice.

Journal of cellular physiology
2024

Tethered cord prevalence among patients with prenatal or postnatal myelomeningocele repair.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Methylenetetrahydrofolate reductase (MTHFR) polymorphisms in andrology-a narrative review.

Translational andrology and urology
2025

Influence 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 Medicine
2024

Use of 'stacked' dermal template: Biodegradable temporising matrix to close a large myelomeningocele defect in a newborn.

Scars, burns &amp; healing
2024

Radiological findings in a case of congenital lumbar herniation of the kidney with a spinal tube defect.

BMJ case reports
2024

To 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. Pediatrics
2024

When all that should close remains open: a tale of gastroschisis, exstrophy of bladder, spina bifida and limb defects.

BMJ case reports
2025

Prenatal Neurosurgical Counseling for Myelomeningocele and Treatment-Determining Factors for Fetal Repair.

Fetal diagnosis and therapy
2024

Association 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 chemistry
2024

Usability testing of the Set Brave Goals app, a continence goal-selection app for children with spina bifida.

Journal of pediatric urology
2024

[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 edition
2024

Imaging Fetal Spine Malformations in the Context of In Utero Surgery.

Magnetic resonance imaging clinics of North America
2024

Effect of aripiprazole on neural tube development in early chick embryos.

Toxicology and applied pharmacology
2024

Analysis of long-term family dynamics in mothers who have undergone fetal myelomeningocele surgery using telemedicine: a pilot study.

Revista da Associacao Medica Brasileira (1992)
2024

Sleep-disordered breathing on respiratory polygraphy in neonates with spina bifida.

Pediatric pulmonology
2024

Getting to the bottom of why children with spina bifida use the emergency department: A qualitative analysis of parent and stakeholder perspectives.

Journal of pediatric urology
2024

Linguistic, 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 health
2024

Patterns and short term neurosurgical treatment outcomes of neonates with neural tube defects admitted to Felege Hiwot Specialized Hospital, Bahir Dar, Ethiopia.

BMC pediatrics
2024

The 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)
2024

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 practice
2024

Flap Closure in Neonatal Neural Tube Defects: Challenges in Flap Design and Lessons Learnt.

Journal of Indian Association of Pediatric Surgeons
2024

Mirror movements associated with cervical limited dorsal myeloschisis: a unique case study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Multiplexing of TMT labeling reveals folate-deficient diet-specific proteome changes in NTDs.

Frontiers in cell and developmental biology
2024

Assessing developmental neurotoxicity of emerging environmental chemicals using multiple in vitro models: A comparative analysis.

Environmental pollution (Barking, Essex : 1987)
2024

In utero Diagnosis of Spinal Dermal Sinus.

Fetal diagnosis and therapy
2024

Noncanonical function of folate through folate receptor 1 during neural tube formation.

Nature communications
2023

The Aperta type of neural tube defect: The relevant experience in a local community with the diversity of the presentation.

Journal of medicine and life
2024

Loss of SHROOM3 affects neuroepithelial cell shape through regulating cytoskeleton proteins in cynomolgus monkey organoids.

Zoological research
2024

Inpp5e Regulated the Cilium-Related Genes Contributing to the Neural Tube Defects Under 5-Fluorouracil Exposure.

Molecular neurobiology
2024

An 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 &amp; biology
2023

Preconception Counseling and Care.

American family physician
2024

Natural 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 Neurosurgery
2023

Exencephaly-Anencephaly Sequence Associated with Maxillary Brachygnathia, Spinal Defects, and Palatoschisis in a Male Domestic Cat.

Animals : an open access journal from MDPI
2023

Folate deficiency reduced aberrant level of DOT1L-mediated histone H3K79 methylation causes disruptive SHH gene expression involved in neural tube defects.

Epigenetics &amp; chromatin
2024

Prenatal diagnosis and postnatal outcome of closed spinal dysraphism.

Prenatal diagnosis
2023

Embryonic exposure to decitabine induces multiple neural tube defects in developing zebrafish.

Fish physiology and biochemistry
2024

Intrauterine Correction of Fetal Myelomeningocele Through Minihysterotomy.

World neurosurgery
2024

Chiari 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 Neurosurgery
2023

Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development.

Disease models &amp; mechanisms
2024

Plasma GDNF levels in spinal dysraphism and its relation with neurological impairment in children: A point of care study.

Journal of pediatric urology
2024

Myelomeningocele Defects Reconstruction With Various Types of Keystone Flaps: An Algorithmic Approach Based on Defect Shape.

The Journal of craniofacial surgery
2024

Prenatal 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 radiology
2023

Ultrasound-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 Medicine
2023

Caudal Fgfr1 disruption produces localised spinal mis-patterning and a terminal myelocystocele-like phenotype in mice.

Development (Cambridge, England)
2023

Effects of sodium fluoride on neural tube development in chick embryos.

Neuro-Chirurgie
2024

Orthosis use and ambulation in adults with myelomeningocele after orthotic management from childhood.

Prosthetics and orthotics international
2024

Investigation on the status of ultrasonic prenatal screening for fetal closed spina bifida.

Minerva pediatrics
2023

Parental perception of contrast enhanced voiding ultrasonography urodynamics vs fluoroscopic urodynamics.

Journal of pediatric urology
2023

Comparison between MRI and the Combination of 2D and 3D US in the Prenatal Diagnosis of Closed Spina Bifida.

Pediatric neurosurgery
2024

Effect 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 Neurosurgery
2023

Role of Magnetic Resonance Imaging in the Screening of Closed Spinal Dysraphism.

Neurologia medico-chirurgica
2023

Gastrulation and Split Cord Malformation.

Advances and technical standards in neurosurgery
2023

The loop-tail mouse model displays open and closed caudal neural tube defects.

Disease models &amp; mechanisms
2023

Disruption of Fuz in mouse embryos generates hypoplastic hindbrain development and reduced cranial nerve ganglia.

bioRxiv : the preprint server for biology
2024

MicroRNA-322 overexpression reduces neural tube defects in diabetic pregnancies.

American journal of obstetrics and gynecology
2023

Non-canonical function of folate/folate receptor 1 during neural tube formation.

bioRxiv : the preprint server for biology
2023

Prophylactic Spinal Cord Untethering in Children with Spinal Dysraphism Undergoing Thoracolumbar Fusion for Scoliosis.

World neurosurgery
2023

Prenatal Diagnosis of Diastematomyelia: a Case Report and Literature Review.

Reproductive sciences (Thousand Oaks, Calif.)
2023

Pacak-Zhuang syndrome: a model providing new insights into tumor syndromes.

Endocrine-related cancer
2023

Homocysteine-a retrospective and prospective appraisal.

Frontiers in nutrition
2022

The silent tragic reality of Hidden Hunger, anaemia, and neural-tube defects (NTDs) in India.

The Lancet regional health. Southeast Asia
2023

Homozygous LOXL2 variant in individuals affected by non-syndromic occipital encephalocele.

Birth defects research
2023

Effects of Zinc Oxide Nanoparticles on Neural Tube Development in Early Chicken Embryos.

Turkish neurosurgery
2024

Surgical anatomy of the cerebellar tonsils: A cadaveric study.

Clinical anatomy (New York, N.Y.)
2023

Spinal dysraphism in exstrophy: a single-center study of a 39-year prospective database.

Journal of neurosurgery. Pediatrics
2023

Ventral 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 Neurosurgery
2023

Double Lumbar Localization of Myelomeningocele: Case Report.

Pediatric neurosurgery
2023

The surface ectoderm exhibits spatially heterogenous tension that correlates with YAP localisation during spinal neural tube closure in mouse embryos.

Cells &amp; development
2023

Knobloch syndrome - a rare collagenopathy, revealing peripheral avascular retina.

Ophthalmic genetics
2023

Transanal irrigation to manage neurogenic bowel in the pediatric population with spina bifida: a scoping review.

Jornal de pediatria
2023

Use of AgNOR staining to determine the effect of metoclopramide on neural tube development in early chick embryos.

Biotechnic &amp; histochemistry : official publication of the Biological Stain Commission
2023

Knowledge of periconceptional folic acid supplementation and associated factors among pregnant women attending antenatal care at public health facilities in Hawassa, South Ethiopia.

Birth defects research
2022

Recursive Feature Elimination-based Biomarker Identification for Open Neural Tube Defects.

Current genomics
2023

Nephrogenic 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 Neurosurgery
2024

Factors Associated with Transfer Distance from Birth Hospital to Repair Hospital for First Surgical Repair among Infants with Myelomeningocele in California.

American journal of perinatology
2023

Vitamin B12 deficiency presenting with a pancytopenia in pregnancy.

BMJ case reports
2023

Development of a simulator for training of fetoscopic myelomeningocele surgery.

Prenatal diagnosis
2022

European Epidemiological Patterns of Cannabis- and Substance-Related Congenital Neurological Anomalies: Geospatiotemporal and Causal Inferential Study.

International journal of environmental research and public health
2024

Surgical management of anterior sacral meningoceles: an illustrated case series and review of the literature.

British journal of neurosurgery
2023

Correlation of urodynamic studies and somatosensory evoked potential and their prognostic value in children with closed spinal dysraphism.

Journal of pediatric urology
2022

Prenatal assessment and pregnancy outcomes of foetal low-lying conus medullaris using 3D ultrasound.

BMC pregnancy and childbirth
2023

Ischemic myelomalacia and closed spinal dysraphism in multiple finishing swine.

Veterinary pathology
2022

BMP/Smad Pathway Is Involved in Lithium Carbonate-Induced Neural-Tube Defects in Mice and Neural Stem Cells.

International journal of molecular sciences
2023

Association of In Utero Antipsychotic Medication Exposure With Risk of Congenital Malformations in Nordic Countries and the US.

JAMA psychiatry
2023

Electrodiagnosis 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
2022

[Repair Surgery of Myelomeningocele].

No shinkei geka. Neurological surgery
2022

Wnt/planar cell polarity signaling controls morphogenetic movements of gastrulation and neural tube closure.

Cellular and molecular life sciences : CMLS
2023

Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.

Reproductive sciences (Thousand Oaks, Calif.)
2022

Prenatal intracranial hypotension syndrome in congenital cephalocele: Insights into pathophysiologic mechanisms and importance of defect coverage.

Prenatal diagnosis
2022

High Folate, Perturbed One-Carbon Metabolism and Gestational Diabetes Mellitus.

Nutrients
2022

In vivo high-content imaging and regression analysis reveal non-cell autonomous functions of Shroom3 during neural tube closure.

Developmental biology
2022

Disorders of Secondary Neurulation: Suggestion of a New Classification According to Pathoembryogenesis.

Advances and technical standards in neurosurgery
2022

Closed spinal dysraphism-lipomyelocele in an 18-year-old male.

The Pan African medical journal
2023

Management 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 neurosurgery
2022

Lumbar paravertebral tumor in a newborn: congenital lipomatous nevus.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2022

Myelomeningocele Including Fetal Prescription.

Pediatrics in review
2022

Reliability and Agreement in the Cerebellar Tonsil Tip Localization: Two Methods Using the McRae Line Concept in MRI.

World neurosurgery
2022

Closing the Gap: Bridging Peripheral Sensory Nerve Defects with a Chitosan-Based Conduit a Randomized Prospective Clinical Trial.

Journal of personalized medicine
2023

Prevalence and risk factors for scoliosis in adults with closed and open spina bifida: A large, cross-sectional study.

Annals of physical and rehabilitation medicine
2022

Avoiding 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 Neurosurgery
2022

Rotation Advancement Keystone Flap for Closure of Large Myelomeningocele Defects.

Annals of plastic surgery
2022

Trends 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 sciences
2022

Financial toxicity among individuals with spina bifida and their families: A qualitative study and conceptual model.

Journal of pediatric urology
2022

Analysis of Genes Associated with Both Neural Tube Defects and Neuroectodermal Tumors.

Medical science monitor : international medical journal of experimental and clinical research
2022

Embryonic Hypotaurine Levels Contribute to Strain-Dependent Susceptibility in Mouse Models of Valproate-Induced Neural Tube Defects.

Frontiers in cell and developmental biology
2022

Retained Medullary Cord Associated with Terminal Myelocystocele and Intramedullary Arachnoid Cyst.

Pediatric neurosurgery
2022

Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study.

Birth defects research
2022

Persisting 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 Neurosurgery
2022

Expanding the clinical phenotype of FGFR1 internal tandem duplication.

Cold Spring Harbor molecular case studies
2022

Two-Photon Cell and Tissue Level Laser Ablation Methods to Study Morphogenetic Biomechanics.

Methods in molecular biology (Clifton, N.J.)
2021

Early prenatal diagnosis of an atypical phenotype of sacral spina bifida.

Journal of medicine and life
2022

Reconstruction of Large Meningomyelocele Defects with Bipedicled Fasciocutaneous Flaps: Technical and Clinical Points.

Turkish neurosurgery
2022

Amniotic fluid-derived stem cell potential for therapeutic and surgical use: A review of the literature.

Prenatal diagnosis
2021

Prevalence of anencephaly in Africa: a systematic review and meta-analysis.

Scientific reports
2022

Back to the Beginning: An Algorithmic Approach to Neonatal Myelomeningocele Repair.

Annals of plastic surgery
2022

Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension.

Disease models &amp; mechanisms
2021

Thorium and fetal neural tube defects: an epidemiological evidence from large case-control study.

Genes and environment : the official journal of the Japanese Environmental Mutagen Society
2021

The Myelic Limited Dorsal Malformation: Prenatal Ultrasonographic Characteristics of an Intermediate Form of Dysraphism.

Fetal diagnosis and therapy
2022

Assessment of embryo morphology following perinatal exposure to aspirin, ibuprofen and paracetamol using whole embryo culture system.

The journal of maternal-fetal &amp; 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 Obstetricians
2021

Risk Factors of Anencephaly: A Case-Control Study in Dessie Town, North East Ethiopia.

Pediatric health, medicine and therapeutics
2021

Multimodality Imaging Evaluation of Fetal Spine Anomalies with Postnatal Correlation.

Radiographics : a review publication of the Radiological Society of North America, Inc
2021

Micronutrient imbalance and common phenotypes in neural tube defects.

Genesis (New York, N.Y. : 2000)
2022

Retained medullary cord and terminal myelocystocele as a spectrum: case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

A preliminary investigation of high retinoic acid exposure during fetal development on behavioral competency and litter characteristics in newborn rats.

Brain and behavior
2021

Intrathecal baclofen therapy for severe spasticity in an adult with tethered cord syndrome: a case report.

Journal of medical case reports
2024

Prognostication of the neurological outcome of tethered cord based on intraoperative neuromonitoring findings: how close can we get?

British journal of neurosurgery
2021

Midline sacral meningeal cyst decompression and repair.

Acta neurochirurgica
2021

Brace 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 Society
2021

Misregulation of cell adhesion molecules in the Ciona neural tube closure mutant bugeye.

Developmental biology
2021

The Effect of the Number of Open Vertebral Segments on the Prognosis of Newborns with Midline Closure Defect: A Single Surgeon, Single Center Experience.

Turkish neurosurgery
2021

Can ultrasound measurement of bladder wall thickness be a useful adjunct for regular urodynamics in children with spina bifida?

Journal of pediatric urology
2021

Intrauterine fetoscopic closure of myelomeningocele: Clinical case and literature review.

Taiwanese journal of obstetrics &amp; gynecology
2021

Endoscopic transpterygoid approach to repair lateral sphenoid recess cerebrospinal fluid leak by multilayered reconstruction.

European annals of otorhinolaryngology, head and neck diseases
2021

The enigma of acute worsening after a latent interval in post-operative patients of craniovertebral junction instability.

Clinical neurology and neurosurgery
2021

Magnitude and determinants of neural tube defect in Africa: a systematic review and meta-analysis.

BMC pregnancy and childbirth
2022

Low torcular Herophili position and large brainstem-tentorium angle in fetuses with open spinal dysraphism at 11-13 weeks' gestation.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2022

Clinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India.

The journal of maternal-fetal &amp; 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 Obstetricians

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Doenças relacionadas

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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.

  1. Central hypoventilation and choking episodes revealing Chiari malformation type I.
    BMJ case reports· 2026· PMID 41513282mais citado
  2. Temporal Gatekeeping Role of Lmx1 during chordate neural tube morphogenesis.
    bioRxiv : the preprint server for biology· 2026· PMID 41867761mais citado
  3. Advances in the prevention and prenatal treatment of spina bifida.
    Discoveries (Craiova, Romania)· 2026· PMID 41799374mais citado
  4. An NP-led bowel management program for patients with spina bifida.
    Journal of pediatric urology· 2026· PMID 41667295mais citado
  5. 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.
    Journal of neuroradiology = Journal de neuroradiologie· 2026· PMID 41610982mais citado
  6. Surgical Approach to a Rare Forearm Morel-Lavallée Lesion: Diagnostic and Management Challenges in the Upper Extremity.
    Cureus· 2026· PMID 41994761recente
  7. Functional and Radiological Outcomes of Distal Femur Fractures Treated With a Combination of Supracondylar Nails and Lateral Condylar Locking Plates.
    Cureus· 2026· PMID 41994725recente
  8. Correlational and Regression-Based Insights into Shoulder and Core Stability Tests in Amateur Athletes: Reference Values and Sex-Based Comparison.
    Pak J Med Sci· 2026· PMID 41994404recente
  9. Global scale-free brain activity as a potential neural signature of visual information processing in aging.
    Front Aging Neurosci· 2026· PMID 41994192recente
  10. A finite element computational framework coupling four-chamber heart mechanics with the systemic and pulmonary circulations.
    Res Sq· 2026· PMID 41994113recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:268366(Orphanet)
  2. MONDO:0017061(MONDO)
  3. GARD:20950(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Iniencefalia fechada
Compêndio · Raras BR

Iniencefalia fechada

ORPHA:268366 · MONDO:0017061
Prevalência
Unknown
Herança
Multigenic/multifactorial, Not applicable
CID-10
Q00.2 · Iniencefalia
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0431286
Wikidata
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