Espinha bífida que não está relacionada a um grupo maior de problemas de saúde.
Introdução
O que você precisa saber de cara
Espinha bífida que não está relacionada a um grupo maior de problemas de saúde.
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
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 26 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 41 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
4 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial, Not applicable.
Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol (PubMed:16769880, PubMed:17288554, PubMed:27771510). MeCbl is an active form of cobalamin (vitamin B12) used as a cofactor for methionine biosynthesis. Cob(I)alamin form is regenerated to MeCbl by a transfer of a methyl group from 5-methyltetrahydrofolate (PubMed:16769880, PubMed:17288554, PubMed:27771510). The processing of cobalamin in the
Cytoplasm
Homocystinuria-megaloblastic anemia, cblG type
An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia.
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.
Trifunctional enzyme that catalyzes the interconversion of three forms of one-carbon-substituted tetrahydrofolate: (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate, 5,10-methenyltetrahydrofolate and (6S)-10-formyltetrahydrofolate (PubMed:10828945, PubMed:18767138, PubMed:1881876). These derivatives of tetrahydrofolate are differentially required in nucleotide and amino acid biosynthesis, (6S)-10-formyltetrahydrofolate being required for purine biosynthesis while (6R)-5,10-methylene-5,6,7,8-tetrahydr
Cytoplasm
Neural tube defects, folate-sensitive
The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.
Key enzyme in methionine and folate homeostasis responsible for the reactivation of methionine synthase (MTR/MS) activity by catalyzing the reductive methylation of MTR-bound cob(II)alamin (PubMed:17892308). Cobalamin (vitamin B12) forms a complex with MTR to serve as an intermediary in methyl transfer reactions that cycles between MTR-bound methylcob(III)alamin and MTR bound-cob(I)alamin forms, and occasional oxidative escape of the cob(I)alamin intermediate during the catalytic cycle leads to
Cytoplasm
Homocystinuria-megaloblastic anemia, cblE type
An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
633 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 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 — Espinha bífida
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
Complex Type Split Cord Malformation: A Two-Center Study.
Complex spinal dysraphism is the condition where multiple dysraphic pathologies are observed in the same patient. Complex type SCM is a compound dysraphic phenotype involving disruptions at multiple developmental stages, characterized by the co-occurrence of SCM and spina bifida aperta. This study aimed to understand the differences between complex SCMs from classical SCM cases in terms of embryological aspects, perioperative management, and follow-up. The study included 44 patients who underwent surgery for complex SCM. Of the patients, 81.8% were operated on during the neonatal period in the same session with spina bifida aperta surgery. Surgery was planned for 11.4% of patients for follow-up purposes, and for 6.8% following detection of SCM on MRI performed due to gait disturbances. It was observed that 68.2% of patients were plegic/severely paretic, 22.7% had moderate paresis, and 9.1% had mild paresis/normally. Regarding the type of spina bifida aperta, 72.7% of patients had myelomeningocele, and 27.3% had myeloschisis. Type 1 SCM was detected in 79.5% of patients, Type 2 SCM in 13.6%, and Type 1.5 SCM in 6.8%. Additionally, 93.2% had tethered cord/thickened-fatty filum terminale, 90.9% had posterior fusion defects, 77.3% had hydrocephalus, 68.2% had kyphoscoliosis, 65.9% had Chiari malformation, 54.5% had syringomyelia, 45.5% had intracranial pathologies other than hydrocephalus, and 4.6% had lipoma. Complex SCMs should not be viewed solely as a spinal pathology; they should be evaluated multidisciplinarily in the perioperative period in terms of anomalies accompanying spina bifida aperta. In these cases are diagnosed at a younger age, the incidence of Type 1 SCM increases, while the frequency of occurrence in the lumbar region decreases and increases in the thoracic region. Furthermore, it has been determined that additional anomalies accompanying spina bifida aperta occur more frequently with complex SCMs.
Large terminal syringomyelia associated with terminal lipoma: mid- to long-term outcomes after tethered cord release.
The management of large terminal syringomyelia (TS) at initial surgery varies in clinical practice, and outcome data stratified by spinal dysraphism subtype remain limited. We evaluated the mid- to long-term clinical course after tethered cord release (TCR) for large TS associated with terminal lipoma. We retrospectively analyzed 12 patients with terminal lipoma (Morota Types 3-4) and large syrinx (syrinx index ≥ 0.5) who underwent TCR without routine additional syrinx procedures between 2012 and 2023. Patients with other spinal dysraphisms were excluded to evaluate a relatively homogeneous spinal dysraphism subtype. Radiological and clinical outcomes were assessed during follow-up. Median MRI and clinical follow-up periods were 54 and 71 months, respectively. Postoperative syrinx reduction or resolution was observed in all patients. Neurological symptoms improved in symptomatic patients. One patient developed a new postoperative deficit, and no patient required reoperation for retethering or syrinx progression. The syrinx index decreased significantly from 0.67 to 0.00 (p = 0.00049). One holocord case underwent intraoperative minimal puncture for temporary pressure relief rather than definitive drainage. In terminal lipoma-associated large TS, TCR without routine additional syrinx procedures was associated with a favorable clinical course during follow-up. These findings provide subtype-specific outcome data that may assist surgical decision-making, particularly when considering the need for additional syrinx procedures at initial surgery. Not applicable.
Tethered Cord Syndrome in Pediatric and Adult Populations: A Retrospective Analysis of Outcomes and Associated Spinal Dysraphisms.
Background and objective Tethered cord syndrome (TCS) is an amalgam of neurologic, urologic, orthopedic, and dermatologic dysfunctions with concurrent spinal dysraphism and deformities. Data from Pakistan regarding the surgical management of TCS remain limited. This study aimed to evaluate the clinical and functional outcomes of surgical detethering in patients with TCS and spinal dysraphism. Materials and methods This retrospective study was conducted at the Punjab Institute of Neurosciences (PINS), Lahore, Pakistan. We analyzed the outcomes of 21 patients (12 pediatric and nine adults) with TCS who were operated on between January 2020 and June 2025. Patient records were reviewed using the institution's Picture Archiving and Communication System (PACS), operative notes, and medical charts. Results of the treatment were summarized and analyzed using descriptive statistical analysis. Results Among the cohort, 12 patients were pediatric and nine were adults. Pediatric patients had an average age of 4.95 ± 5.03 years and showed a female predominance (66.66%, n = 8). Adults had a mean age of 23.44 ± 8.84 years and also demonstrated a female predominance (66.66%, n = 6). Lower limb weakness was the most frequent presenting symptom, occurring in 50% (n = 6) of children and in a higher proportion of adults at 66.66% (n = 6). Lipomyelomeningocele was the most frequently observed form of spinal dysraphism in children, accounting for 33.33% (n = 4), whereas thickened filum terminale was most common in adults, seen in 33.33% (n = 3). The conus level was most commonly located at L1 in pediatric patients, observed in 50.00% (n = 6), while in adults it was most frequently at L3, occurring in 55.55% (n = 5). Detethering of the spinal cord was the predominant surgical intervention in both pediatric and adult groups, performed in 91.66% (n = 11) of children and 100% (n = 9) of adults. Postoperative assessment showed neurological improvement in 75% (n = 9) of pediatric patients and 55.55% (n = 5) of adults, with no major complications reported in 91.66% (n = 11) of children and 66.66% (n = 6) of adults. Conclusions Surgical untethering in patients with TCS leads to improvement in neurological function with an acceptable safety profile, highlighting the importance of early intervention.
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.
Spinal Epidural Abscess in Children With Anatomical Anomalies of the Spine: Case Series and Literature Review.
Spinal epidural abscess (SEA) is a rare pathology with potentially devastating consequences if not treated expeditiously. We retrospectively analyzed clinical and laboratory data retrieved from the medical records of children (age <18 years) admitted to a tertiary pediatric hospital with a diagnosis of SEA and available imaging findings of spinal dysraphism (SD) between 1/2010 and 8/2024. Eight children diagnosed with SD or other anatomical spinal anomaly prior or at the presentation of an SEA were included. The most common clinical presentation was fever (n = 8). Dermal sinus (n = 4) was the most common physical finding. The clinical diagnosis of SEA was made with a mean of 27 days after symptom onset. Escherichia coli and Enterococcus faecalis were the most cultured pathogens. The diagnosis of SEA was made by magnetic resonance imaging in all cases. All 8 children were treated with systemic antibiotics and all had undergone surgical interventions. Four patients remained with a neurologic sequelae, most commonly neurogenic bladder (n = 4). Our report is the first case series of SEA due to SD in a pediatric population described to date. Children with SD are at increased risk for SEA and usually develop this complication at a younger age compared to those with SEA without anatomical risk factors. They are also at increased risk for delayed diagnosis, concomitant meningeal involvement and long-term neurologic sequelae. The most significant variables influencing outcome are timely diagnosis and surgical intervention, followed by appropriate antibiotic administration.
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Complex Type Split Cord Malformation: A Two-Center Study.
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Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTethered Cord Syndrome in Pediatric and Adult Populations: A Retrospective Analysis of Outcomes and Associated Spinal Dysraphisms.
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Journal of pediatric urologyApplication of urethral injection of calcium hydroxyapatite as a natural bulking agent for improvement of urinary incontinence in children with spinal dysraphism.
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Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFalse-positive urine pregnancy screening tests are uncommon in the hospital setting among patients with bowel-containing urinary tract reconstruction.
Journal of pediatric urologyPresurgery motor level assessment for prediction of motor level at birth in fetuses undergoing prenatal repair of open spina bifida: time to abandon anatomical level in counseling.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology[Guidelines on the urological management of the adult patient with spinal dysraphism (spina bifida)].
Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologieDysregulation of Grainyhead-like 3 expression causes widespread developmental defects.
Developmental dynamics : an official publication of the American Association of AnatomistsSurgical 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 urologyIschemic myelomalacia and closed spinal dysraphism in multiple finishing swine.
Veterinary pathologyFunctional level of lesion scale: Validating fourteen years of research with the national spina bifida patient registry.
Journal of pediatric rehabilitation medicineCommentary to "A patient- and parent-centered approach to urinary and fecal incontinence in children and adolescents with spina bifida: understanding experiences in the context of other competing care issues".
Journal of pediatric urologyINDIAMAN-20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyNeurodevelopmental Implications on Urological Self-management Among People Living With Spina Bifida: A Practical Guide for Urology Providers.
UrologyAssociation of ethnicity and adaptive functioning with health-related quality of life in pediatric myelomeningocele.
Journal of pediatric rehabilitation medicineExploratory study of the provision of academic and health-related accommodations to transition-age adolescents and emerging adults with spina bifida.
Journal of pediatric rehabilitation medicineWeight Status of Children Participating in the National Spina Bifida Patient Registry.
PediatricsDistinct Spinal Dysraphisms Arising from Each Hemicord of Type I Split Cord Malformation - A Rare Coexistence.
Neurology IndiaInformation needs of parents of children with congenital anomalies across Europe: a EUROlinkCAT survey.
BMC pediatricsA patient- and parent-centered approach to urinary and fecal incontinence in children and adolescents with spina bifida: understanding experiences in the context of other competing care issues.
Journal of pediatric urology[Clinical analysis of 59 cases of pediatric nasal dermal sinus cysts with midfacial infection as the first symptom].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryNewborns with myelomeningocele: their health-related quality of life and daily functioning 10 years later.
Journal of neurosurgery. PediatricsGenetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.
Reproductive sciences (Thousand Oaks, Calif.)Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case.
Journal of neurosurgery. Case lessonsMultidisciplinary Management of Children with Occult Spinal Dysraphism: A Comprehensive Journey from Birth to Adulthood.
Children (Basel, Switzerland)Atlantoaxial limited dorsal myeloschisis: A report of two cases and review of literature.
Brain & spineGut microbiota and pediatric patients with spina bifida and neurogenic bowel dysfunction.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTelemedicine and Spina Bifida Transition: A Pilot Randomized Trial.
World neurosurgeryRisk factors for unanticipated hospitalizations in children and youth with spina bifida at an urban children's hospital: A cross-sectional study.
Disability and health journalCIC missense variants contribute to susceptibility for spina bifida.
Human mutationLaparotomy-Assisted 2-Port Fetoscopic Repair of Spina Bifida Aperta: Report of a Single-Center Experience in Paris, France.
Fetal diagnosis and therapyChild, Parent, and Family Adjustment for Patients Followed in a Multidisciplinary Spina Bifida Clinic.
Topics in spinal cord injury rehabilitationSplit Notochord Syndrome with Spinal Column Duplication and Spinal Cord Lipoma: A Case Report.
Children (Basel, Switzerland)Anorectal malformation, urethral duplication, occult spinal dysraphism (ARM-UD-OSD): a challenging uncommon association.
Pediatric surgery internationalMultidisciplinary spina bifida clinic: the Chicago experience.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryGiant anterior sacral meningocele associated with hydroureteronephrosis and renal injury: illustrative case.
Journal of neurosurgery. Case lessonsWhy are pediatric urologists unable to predict renal deterioration using urodynamics? A focused narrative review of the shortcomings of the literature.
Journal of pediatric urologyA 15-year retrospective review of urodynamic studies in children at Red Cross War Memorial Children's Hospital, Cape town, South Africa.
BMC pediatricsPercutaneous/mini-laparotomy fetoscopic repair of open spina bifida: a novel surgical technique.
American journal of obstetrics and gynecologyPrimary vs patch-based skin closure for in-utero spina bifida repair.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyPrevalence and risk factors for scoliosis in adults with closed and open spina bifida: A large, cross-sectional study.
Annals of physical and rehabilitation medicineProgressive-Tension Sutures in Reconstruction of Posterior Trunk Defects in Pediatric Patients: A Prospective Series.
Plastic and reconstructive surgeryEffects of general anesthesia with and without thoracic epidural block on length of stay after open spine surgery: a single-blinded randomized controlled trial.
The spine journal : official journal of the North American Spine SocietyBotulinum toxin in patients at-risk for bladder augmentation: Durable impact or kicking the can?
Neurourology and urodynamicsPrimary Spinal Tumors and Masses in Children.
Iranian journal of child neurologyFinancial toxicity among individuals with spina bifida and their families: A qualitative study and conceptual model.
Journal of pediatric urologyTethered Cord Syndrome Associated With Lumbar Lipomyelomeningocele: A Case Report.
CureusThe safety cutoff storage pressure for preventing upper urinary tract damage in neurogenic bladder from spinal cord pathology and risk factor analysis.
Neurourology and urodynamicsA pilot study assessing average detrusor pressure garnered from area under a urodynamic curve: Evaluation of clinical outcomes.
Journal of pediatric urologyPhysiological rapid growth of spinal lipoma in the early postnatal period.
Journal of neurosurgery. PediatricsWorking memory and cognitive flexibility predict growth trajectories of sluggish cognitive tempo in youth with spina bifida.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescenceHydrocephalus in Spina Bifida.
Neurology IndiaRate of head ultrasound abnormalities at one month in very premature and extremely premature infants with normal initial screening ultrasound.
Pediatric radiologyA SOX3 duplication and lumbosacral spina bifida in three generations.
American journal of medical genetics. Part AInfantile hydrocephalus: A retrospective cohort of 467 patients from a single center.
Neuro-ChirurgieParents' school-related concerns and perceived strengths in youth with spina bifida.
Child: care, health and developmentWhole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
American journal of medical genetics. Part ANephro-urological outcomes of a proactive management of children with spina bifida in their first 5 Years of life.
Journal of pediatric urologyCharacteristics and first-year mortality, by lesion level, among infants with spina bifida in the New York State Birth Defects Registry, 2008-2017.
Birth defects researchFolate deficiency disturbs PEG10 methylation modifications in human spina bifida.
Pediatric researchMedical responsibility growth in youth with spina bifida: Neuropsychological and parenting predictors.
Health psychology : official journal of the Division of Health Psychology, American Psychological AssociationSpina bifida care, education, and research: A multidisciplinary community in a global context.
Journal of pediatric rehabilitation medicineA qualitative interview study on successful pregnancies in women with spina bifida.
Journal of pediatric urologyWhat brain abnormalities can magnetic resonance imaging detect in foetal and early neonatal spina bifida: a systematic review.
Neuroradiology[Preliminary analysis of the clinical characteristics of 1 012 patients with secondary lower limb deformity of spina bifida from QIN Sihe Orthopedic Surgery Case Data between October 12, 1986 and December 31, 2020].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery[Effectiveness and safety of sacral neuromodulation on neurogenic bladder and bowel dysfunction in patients with spina bifida].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryCerebral Abnormalities in Spina Bifida: A Neuropathological Study.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyAssessment of Health Literacy and Self-reported Readiness for Transition to Adult Care Among Adolescents and Young Adults With Spina Bifida.
JAMA network openPain phenotypes among adults living with cerebral palsy and spina bifida.
PainCorrelation of fetal ventricular size and need for postnatal cerebrospinal fluid diversion surgery in open spina bifida.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyThe impact of constant antibiotic prophylaxis in children affected by spinal dysraphism performing clean intermittent catheterization: a 2-year monocentric retrospective analysis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFactors Associated With Ambulation and Transfer Ability: A Study From the National Spina Bifida Patient Registry.
American journal of physical medicine & rehabilitationPediatric Spinal Cord Diseases.
Pediatrics in reviewClinical examination and classification systems of congenital clubfoot: a narrative review.
Annals of translational medicinePrioritization of risk situations in neuro-urology: guidelines from Association Française d'Urologie (AFU), Association Francophone Internationale des Groupes d'Animation de la Paraplégie (A.F.I.G.A.P.), Groupe de Neuro-urologie de Langue Française (GENULF), Société Française de Médecine Physique et de Réadaptation (SOFMER) and Société Interdisciplinaire Francophone d'UroDynamique et de Pelvi-Périnéologie (SIFUD-PP).
World journal of urologyCongenital spine deformities: timing of insult during development of the spine in utero.
Spine deformityParental metal exposures as potential risk factors for spina bifida in Bangladesh.
Environment international"We Are Anxious Every Day": COVID-19 Impacts on Youth with Spina Bifida.
Journal of pediatric psychologyPericonceptional nonsteroidal anti-inflammatory drug use, folic acid intake, and the risk of spina bifida.
Birth defects researchAssociações
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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.
- Complex Type Split Cord Malformation: A Two-Center Study.
- Large terminal syringomyelia associated with terminal lipoma: mid- to long-term outcomes after tethered cord release.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2026· PMID 41824121mais citado
- Tethered Cord Syndrome in Pediatric and Adult Populations: A Retrospective Analysis of Outcomes and Associated Spinal Dysraphisms.
- Mortality Through 2021 Among Persons Born With Spina Bifida in Metropolitan Atlanta, 1981-2018.
- Spinal Epidural Abscess in Children With Anatomical Anomalies of the Spine: Case Series and Literature Review.
- Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transition.
- Revised orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD).
- Comparative Outcomes After Percutaneous Coronary Intervention in Unconscious and Conscious Patients With Out-of-Hospital Cardiac Arrest.
- New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.
- Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:823(Orphanet)
- MONDO:0019351(MONDO)
- GARD:7673(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q844717(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
