Introdução
O que você precisa saber de cara
Síndrome rara caracterizada por microcefalia grave, prognatismo mandibular, estrabismo e paralisia cerebral atetoide. Apresenta também covinha no queixo, apêndice cutâneo pré-auricular e escassez de dados sobre herança.
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
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 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
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 — Síndrome de microbraquicefalia grave-transtorno do desenvolvimento intelectual-paralisia cerebral atetoide
Centros de Referência SUS
13 centros habilitados pelo SUS para Síndrome de microbraquicefalia grave-transtorno do desenvolvimento intelectual-paralisia cerebral atetoide
Centros para Síndrome de microbraquicefalia grave-transtorno do desenvolvimento intelectual-paralisia cerebral atetoide
Detalhes dos centros
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
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
The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
The quality of life (QoL) of parents and caregivers of children with disabilities in Saudi Arabia is examined in this systematic review. Fourteen cross-sectional studies published between 2020 and 2024 are included, encompassing 1,841 caregivers, of whom 60.2% are mothers, 23.1% fathers, and 18.4% other caregivers, caring for 1,460 children with disabilities. QoL is primarily assessed using the WHOQOL-BREF in 10 studies, followed by the SF-36 in two studies and the Beach Center Family Quality of Life Scale in one study. Autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), cerebral palsy (CP), and Down syndrome (DS) are the most commonly reported conditions. Negative QoL outcomes are reported in at least one domain in 9 of the 10 WHOQOL-BREF studies. The physical domain is most frequently affected (50% of studies), followed by the social and environmental domains (40% each) and the psychological domain (30%). More than half of caregivers (53.6%) are reported to be unemployed, and poorer QoL is consistently associated with unemployment, lower income, limited education, and restricted access to support services. Lower QoL is most frequently reported by mothers and by caregivers of children with severe or multiple disabilities, highlighting the need for targeted support interventions.
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.
Protocadherin-12 (PCDH12), a cell-adhesion protein belonging to the non-clustered protocadherin family, plays a crucial role in the establishment and regulation of neuronal connections and communication. Bi-allelic loss-of-function (LoF) variants in the PCDH12 gene have been associated with several neurodevelopmental disorders (NDDs) such as diencephalic-mesencephalic junction dysplasia syndrome, cerebral palsy, and cerebellar ataxia, often accompanied by ocular abnormalities. However, genotypes exhibit variable expressivity. Affected individuals sharing the same PCDH12 variant presenting differing phenotypic severities have posed major challenges towards identification of the underlying pathogenic mechanisms. Here, we report three affected individuals from two families, each harbouring non-truncating pathogenic missense variants in PCDH12 . The patients are compound heterozygous, with each individual carrying one extracellular [c.1742T>G (p.Val581Gly) and c.1861_2del/insCA (p.Ile621His)] and one intracellular variant [c.3370C>T (p.Arg1124Cys) and c.3445G>A (p.Asp1149Asn] on each allele. The children present with a range of phenotypes similar to those associated with LoF variants. One child exhibited microcephaly and seizures, while the two siblings displayed developmental delays and severe behavioral disorders. All three children experienced some degree of visual impairment. The missense variants provided new insights into the neurodevelopmental consequences of compromised PCDH12 function by distinguishing the specific consequences associated with dysfunction in the extracellular versus intracellular domains of PCDH12. All identified missense variants are predicted to be deleterious and destabilizing. The expression of PCDH12 in HEK293T and HeLa cells demonstrated that PCDH12 is expressed effectively, regardless of the presence of missense variants. However, the extracellular variants p.Val581Gly and p.Ile621His compromised the stability of PCDH12's homophilic adhesion. Additionally, we found evidence of an interaction between PCDH12 and the extracellular domain of the epilepsy-associated PCDH19 protein. PCDH12 extracellular missense variants also affect PCDH19 stability. Our study provides evidence that PCDH12 mediates both homophilic and heterophilic interactions. Our findings also highlight the importance of stable PCDH12-mediated adhesion, emphasizing the need to further study the functional consequences of PCDH12 missense variants on brain and visual system development.
[Clinical analysis of neurologic complications in neonates during extracorporeal membrane oxygenation support].
Objective: To investigate the incidence, risk factors, and outcomes of neurological complications in neonates undergoing extracorporeal membrane oxygenation (ECMO). Methods: A retrospective cohort study was conducted. A total of 47 neonates who received ECMO support in the Division of Neonatology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, from March 2020 to August 2025 were included. Data on baseline characteristics, ECMO operational parameters, cranial imaging, electroencephalogram, and neurodevelopmental assessments were collected. Based on the presence of neurological injury, neonates were categorized into neurological injury and non-neurological injury groups. Independent samples t test, Mann-Whitney U test, χ² tests or Fisher exact tests were used to compare the difference between groups. Results: Among the 47 neonates, 35 cases (74%) were male, with a gestational age at birth of 39.4 (38.0, 40.0) weeks and a birth weight of 3 200 (2 855, 3 440) g. Primary etiologies from cardiopulmonary failure included persistent pulmonary hypertension of the newborn (17 cases (36%)), meconium aspiration syndrome (14 cases (30%)), neonatal sepsis (7 cases (15%)), and severe pneumonia (4 cases (9%)). Neurological injury occurred in 18 neonates (38%) with major neurological events including intracranial hemorrhage (13 cases), subclinical seizures (7 cases), markedly suppressed electroencephalographic activity (2 cases), and cerebral infarction (1 case). The change in arterial partial pressure of carbon dioxide (PCO2) before and after ECMO initiation was greater in the neurological injury group than in the non-neurological injury group in 29 cases (P=0.023). No statistically difference was observed in baseline characteristics, ECMO operational parameters or anti-coagulation therapy (all P>0.05). The overall ECMO weaning success rate was 85% (40/47), with a survival-to-discharge rate of 72% (34/47). In the neurological injury group, 12 of 18 neonates were successfully weaned from ECMO and 7 survived to discharge, whereas in the non-neurological injury group, 28 of 29 neonates were successfully weaned and 27 survived to discharge. Both ECMO weaning success rate and survival to discharge rates were lower in the neurological injury group than in the non-neurological injury group (both P<0.05). Among 34 survivors followed up to 2 years of age, epilepsy occurred in 2 cases and cerebral palsy in 1 case, and 23 cases completed at least one neurodevelopmental assessment within 2 years of age, among whom 3 of 18 infants evaluated at 3 months of age showed abnormal neurodevelopmental findings. Conclusions: Neurological complications are prevalent during neonatal ECMO support, predominantly manifesting as intracranial hemorrhage and subclinical seizures, and are major contributors to mortality and adverse neurodevelopmental outcomes. Large fluctuations in PCO2 around ECMO initiation may be a critical factor for neurological injury. 目的: 探讨新生儿体外膜氧合(ECMO)治疗期间神经系统并发症的发生情况、危险因素及预后。 方法: 回顾性队列研究。纳入2020年3月至2025年8月广州医科大学附属妇女儿童医疗中心新生儿科接受ECMO治疗的47例患儿。收集患儿基线资料、ECMO运行参数、头颅影像学、脑电图及神经发育评估等结果。根据是否发生神经系统损伤分为神经系统损伤组和无神经系统损伤组。采用独立样本t检验、Mann-Whitney U检验、χ2检验或Fisher确切概率检验进行组间比较。 结果: 47例患儿中男35例(74%),出生胎龄39.4(38.0,40.0)周,出生体重3 200(2 855,3 440)g。原发疾病为新生儿持续性肺动脉高压17例(36%),胎粪吸入综合征14例(30%),新生儿败血症7例(15%),重症肺炎4例(9%)。ECMO治疗期间18例(38%)出现神经系统损伤,无神经系统损伤组29例。神经系统损伤包括颅内出血13例、惊厥7例均为亚临床发作、脑电图显著抑制2例和脑梗死1例。神经系统损伤组ECMO启动前后动脉血二氧化碳分压(PCO2)差值高于无神经系统损伤组(P=0.023),两组ECMO启动前基线情况、ECMO运行参数、抗凝治疗等方面差异均无统计学意义(均P>0.05)。ECMO撤机成功40例(85%),出院存活34例(72%)。神经系统损伤组18例中成功撤机12例、存活出院7例,无神经系统损伤组29例中成功撤机28例、存活出院27例,神经系统损伤组的成功撤机率和出院存活率均低于无损伤组(均P<0.05)。34例存活患儿随访至2岁,发生癫痫2例、脑性瘫痪1例,23例患儿在24月龄内完成至少1次神经发育评估,其中3月龄神经发育评估18例患儿中异常3例。 结论: 新生儿ECMO治疗期间神经系并发症发生率较高,以颅内出血和亚临床惊厥为主,是造成死亡和不良神经发育预后的重要原因。ECMO启动前PCO2的急剧波动可能是神经损伤的危险因素。.
Standard work tools for managing pediatric baclofen pump infections and withdrawal.
Intrathecal baclofen (ITB) pumps are essential for managing spasticity and dystonia in children; however, they carry risks of hardware infection, withdrawal syndrome, and emergent failure. Management of these complications remains variable across institutions, and no unified, pediatric-specific workflow exists to date. We sought to develop and implement standard work tools (SWTs) to guide the evaluation and treatment of ITB pump infection and withdrawal in pediatric patients. Senior-level pediatric neurosurgery and physical medicine and rehabilitation (PM&R) physicians at a high-volume tertiary children's hospital (Ann and Robert H. Lurie Children's Hospital) collaboratively developed two structured SWTs addressing: (1) diagnosis and care of suspected ITB pump infection; and (2) structured weaning protocols to prevent and manage withdrawal during pump explantation or malfunction. SWTs were disseminated through detailed manuals and real-time clinical decision support. Their clinical utility was assessed through implementation in cases requiring pump interrogation or removal. The SWTs were successfully applied across multidisciplinary teams; collectively, they standardize pump interrogation, laboratory evaluation, drug conversion strategies, ITB dose-based weaning thresholds, and escalation procedures for severe withdrawal or infection. The tools enabled consistent management of both emergent and subacute presentations. We further demonstrate their effectiveness through two representative cases: one involving MSSA pocket infection requiring pump removal and structured withdrawal management, and another involving non-inflammatory wound breakdown with preserved pump function requiring coordinated interdisciplinary care. SWTs improve safety and timeliness in the management of ITB pump infections and baclofen withdrawal in children. The presented tools provide a reproducible framework for first-line providers and pertinent specialists, particularly for those who may not be familiar with key signs and varied presentations. Broader adoption may reduce variability in treatment while optimizing longitudinal ITB therapy outcomes in pediatric patients.
Putamen Atrophy as a Predictive Factor of Efficacy of GPi-DBS in Dystonia-Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy.
Perinatal hypoxic-ischemic encephalopathy (HIE) is a severe condition resulting from impaired oxygen delivery to the developing brain, often leading to both motor deficits and dystonia-dyskinetic syndromes (DDS). In selected cases, deep brain stimulation of the globus pallidus internus (GPi-DBS) may provide a therapeutic option. However, predicting outcomes remains challenging because of clinical heterogeneity and variable responses. This retrospective study aims to identify preoperative imaging predictors of GPi-DBS efficacy in patients with DDS secondary to HIE, focusing on putaminal atrophy as a potential criterion. We retrospectively analyzed 73 patients with DDS secondary to HIE who underwent GPi-DBS at our institution from 2003 to 2023. Clinical outcomes were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Barry-Albright Dystonia Scale (BADS) at baseline and up to 15 years post-surgery. Preoperative magnetic resonance imaging scans were qualitatively and quantitatively evaluated to assess putaminal atrophy. Statistical analyses explored the relationships between imaging findings, clinical severity, and DBS outcomes. Patients with severe putaminal atrophy exhibited significantly higher preoperative BFMDRS motor and disability scores, correlating with a limited response to DBS at 1-year follow-up (P < 0.05). Volumetric analysis confirmed that greater putaminal atrophy was associated with poorer motor improvements post-surgery. The predictive value of putaminal volume for long-term outcomes remained significant at 5-year follow-up. Putaminal atrophy is a key predictor of suboptimal outcomes following GPi-DBS in patients with HIE-related DDS. These findings highlight the importance of preoperative imaging in candidate selection and underscore the need for alternative strategies in patients with severe post-anoxic basal ganglia damage. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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CureusMolecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy.
Global medical geneticsPrescription Opioid Use for Adolescents With Neurocognitive Disability Undergoing Surgery: A Pilot Study.
The Journal of surgical researchStriatal dopamine transporter binding differs between dementia with Lewy bodies and Parkinson's disease with dementia.
Journal of the neurological sciencesJuvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report.
BiomedicinesParents of Children Diagnosed with Congenital Anomalies or Cerebral Palsy: Identifying Needs in Interaction with Healthcare Services.
Children (Basel, Switzerland)Methods and results of neurosurgical treatment of cerebral palsy.
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoIndomethacin Prophylaxis Is Associated with Reduced Risk of Intraventricular Hemorrhage in Extremely Preterm Infants Born in the Context of Amniotic Infection Syndrome.
NeonatologyExploring the Influence of the Coronavirus Disease 2019 Pandemic on the Accessibility of Rehabilitation Services Provided to Children with Disabilities: A Cross-Sectional Study.
Medicina (Kaunas, Lithuania)Neonatal and developmental outcomes of very preterm twins according to the chorionicity and weight discordance.
Scientific reportsThyroid function and associated mood changes after COVID-19 vaccines in patients with Hashimoto thyroiditis.
Frontiers in immunologyDimensional Assessment of Depression and Anxiety in a Clinical Sample of Adults With Chronic Tic Disorder.
The Journal of neuropsychiatry and clinical neurosciencesChorionicity and neurodevelopmental outcomes at 5½ years among twins born preterm: the EPIPAGE2 cohort study.
BJOG : an international journal of obstetrics and gynaecologyHealth-related quality of life in children with cerebral palsy associated with congenital Zika infection.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloMeconium-stained amniotic fluid.
American journal of obstetrics and gynecologyMECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report.
The Journal of international medical researchCo-morbidity associated with development of severe COVID-19 before vaccine availability: a retrospective cohort study in the first pandemic year among the middle-aged and elderly in Jönköping county, Sweden.
BMC infectious diseasesPhenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort.
Annals of Indian Academy of NeurologyInvestigation of Neurological Complications after COVID-19 Vaccination: Report of the Clinical Scenarios and Review of the Literature.
VaccinesCauses of death in children with congenital Zika syndrome in Brazil, 2015 to 2018: A nationwide record linkage study.
PLoS medicineGERD surgery in non-neurologic patients: Modified Laparoscopic Hill-Snow Repair is a valid alternative to Nissen fundoplication. Results of a 20 years of follow-up.
La Pediatria medica e chirurgica : Medical and surgical pediatricsLaparoscopic Repair of Morgagni Hernia in Children.
Journal of pediatric surgeryImpaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function.
bioRxiv : the preprint server for biologyAcquired Hip Dysplasia in Children with Congenital Zika Virus Infection in the First Four Years of Life.
VirusesNeurological Complications Following COVID-19 Vaccination.
Current neurology and neuroscience reportsPutative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clinical geneticsVertebral artery dissection induced lateral medullary syndrome characterized with severe bradycardia: a case report and review of the literature.
Annals of palliative medicineNeurodevelopmental outcome after antenatal therapy for fetal supraventricular tachyarrhythmia: 3-year follow-up of multicenter trial.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyWhat Radiographic and Clinical Factors Ultimately Necessitate a C2-Sacrum Instrumented Posterior Spinal Fusion?
Global spine journalCentral Pontine Myelinolysis: A Case Report of Persistent Hyperglycemia With Normal Serum Sodium.
CureusThe NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).
GenomicsDifficult intubation and postoperative aspiration pneumonia associated with Moebius syndrome: a case report.
BMC anesthesiologyRisk of COVID-19 hospitalizations among school-aged children in Scotland: A national incident cohort study.
Journal of global healthEarly-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Movement disorders : official journal of the Movement Disorder SocietySARS-CoV-19-associated Rhino-orbital and cerebral mucormycosis: clinical and radiological presentations.
Medical mycologyMultisystem Inflammatory Syndrome in a Newborn (MIS-N): Clinical Evidence and Neurodevelopmental Outcome.
Current pediatric reviewsLong-term effects of selective fetal growth restriction (LEMON): a cohort study of neurodevelopmental outcome in growth discordant identical twins in the Netherlands.
The Lancet. Child & adolescent healthASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.
NeuropediatricsThe feasibility, safety, and efficacy of Paxlovid treatment in SARS-CoV-2-infected children aged 6-14 years: a cohort study.
Annals of translational medicineThe Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series.
Frontiers in neurologyLongitudinal Follow-Up of Gross Motor Function in Children with Congenital Zika Virus Syndrome from a Cohort in Rio de Janeiro, Brazil.
VirusesA Case of Pathologically Confirmed Corticobasal Degeneration Initially Presenting as Progressive Supranuclear Palsy Syndrome.
Journal of Korean medical sciencePathologically Verified Corticobasal Degeneration Mimicking Richardson's Syndrome Coexisting with Clinically and Radiologically Shunt-Responsive Normal Pressure Hydrocephalus.
Movement disorders clinical practiceAt-Home Orthodontic Treatment for Severe Teeth Arch Malalignment and Severe Obstructive Sleep Apnea Syndrome in a Child with Cerebral Palsy.
International journal of environmental research and public healthInfants prenatally exposed to SARS-CoV-2 show the absence of fidgety movements and are at higher risk for neurological disorders: A comparative study.
PloS onePredictors of hospitalisation and death due to SARS-CoV-2 infection in Finland: A population-based register study with implications to vaccinations.
VaccineHypoxic Ischemic Encephalopathy (HIE) in Term and Preterm Infants.
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)Aureobasidium melanigenum catheter-related bloodstream infection: a case report.
BMC infectious diseasesNeurodevelopment in Children Exposed to Zika in utero: Clinical and Molecular Aspects.
Frontiers in geneticsSimple rule to automatically recognize the orientation of the sagittal plane foot angular velocity for gait analysis using IMUs on the feet of individuals with heterogeneous motor disabilities.
Journal of biomechanicsTwo Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
The Tohoku journal of experimental medicineUnusual presentation of acute encephalopathy with biphasic seizures and late reduced diffusion in Miller-Dieker syndrome.
BMJ case reportsPrevention of perinatal depression with counseling in adolescents: a cost-effectiveness analysis.
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 ObstetriciansAntenatal Betamethasone Every 12 Hours in Imminent Preterm Labour.
Journal of clinical medicineLemierre's syndrome complicated by cerebral venous sinus thrombosis: A life threatening and rare disease successfully treated with empiric antimicrobial therapy and conservative approach.
Intractable & rare diseases researchPrediction of Cerebral Palsy or Death among Preterm Infants Who Survive the Neonatal Period.
American journal of perinatologyCaregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies.
Developmental medicine and child neurologyChildren with severe disabilities: adaptation, virtual education, and prospects. Experiences of three Peruvian mothers, COVID-19 context.
Journal of medicine and lifeRacial-ethnic inequities in age at death among adults with/without intellectual and developmental disability in the United States.
Preventive medicineHome mechanical ventilation for children with severe neurological impairment: Parents' perspectives on clinician counselling.
Developmental medicine and child neurologySevere Outcomes, Readmission, and Length of Stay Among COVID-19 Patients with Intellectual and Developmental Disabilities.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesPredicting the impact of intraoperative halo-femoral traction from preoperative imaging in neuromuscular scoliosis.
Spine deformityEpilepsy and EEG Abnormalities in Congenital Zika Syndrome.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietySymptom care approach to noninvasive ventilatory support in children with complex neural disability.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineThe impact of asymmetry on the radiographical outcomes following hip reconstruction in patients with cerebral palsy.
Journal of children's orthopaedicsEpilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.
Epilepsy & behavior : E&BNasal trumpet as a long-term remedy for obstructive sleep apnea syndrome in a child.
SAGE open medical case reportsTreating Aggression and Self-destructive Behaviors by Stimulating the Nucleus Accumbens: A Case Series.
Frontiers in neurologyDevelopment Delay in a Child with Microcephaly and Birth Asphyxia: Explore Diagnosis beyond Hypotonic Cerebral Palsy.
Journal of pediatric neurosciencesClinical Spectrum and Neuroimagistic Features in Hospitalized Patients with Neurological Disorders and Concomitant Coronavirus-19 Infection.
Brain sciencesNAC and Vitamin D Improve CNS and Plasma Oxidative Stress in Neonatal HIE and Are Associated with Favorable Long-Term Outcomes.
Antioxidants (Basel, Switzerland)Reversible cerebral vasoconstriction syndrome with basilar artery stenosis: A case report.
MedicineNeurodevelopmental Trajectories of Preterm Born Survivors of Twin-Twin Transfusion Syndrome: From Birth to 5 Years of Age.
The Journal of pediatricsAcute colonic pseudo-obstruction (Ogilvie syndrome) leading to respiratory compromise and death.
Journal of forensic sciencesMolecular pathology and synaptic loss in primary tauopathies: an 18F-AV-1451 and 11C-UCB-J PET study.
Brain : a journal of neurologyIsolated acute pseudobulbar palsy with infarction of artery of percheron: case report and literature review.
African health sciencesHip Displacement in MECP2 Disorders: Prevalence and Risk Factors.
Journal of pediatric orthopedicsNeonatal encephalopathy: Focus on epidemiology and underexplored aspects of etiology.
Seminars in fetal & neonatal medicineRisks of covid-19 hospital admission and death for people with learning disability: population based cohort study using the OpenSAFELY platform.
BMJ (Clinical research ed.)[Refeeding syndrome in a girl with cerebral palsy].
Anales del sistema sanitario de NavarraClinical Characteristics and Outcomes of COVID-19 in Children in Northern Iran.
International journal of pediatricsAutism medical comorbidities.
World journal of clinical pediatricsSleep-related breathing disorders associated with intrathecal baclofen therapy to treat patients with cerebral palsy: A cohort study and discussion.
NeuroRehabilitation[Simultaneous Bilateral Femoral Osteotomies in Neurogenic Hip Instability: a Feasibility Study].
Acta chirurgiae orthopaedicae et traumatologiae CechoslovacaThe Impact of Eye-gaze Controlled Computer on Communication and Functional Independence in Children and Young People with Complex Needs - A Multicenter Intervention Study.
Developmental neurorehabilitationSpeech and Language in 5-year-olds with Different Neurological Disabilities and the Association between Early and Later Consonant Production.
Developmental neurorehabilitationOphthalmic complications of Lemierre syndrome.
Acta ophthalmologicaMuscle Tone Assessment under General Anesthesia for Sjögren-Larsson Syndrome and Spasticity.
Pediatric neurosurgeryMelatonin for the prevention of fetal injury associated with intrauterine inflammation.
American journal of reproductive immunology (New York, N.Y. : 1989)Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome.
Human genomicsTreatment of dental caries in a patient with Joubert syndrome without the use of sedatives: A case study.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryDiagnosis and patterns of hearing loss in children with severe developmental delay.
American journal of otolaryngologyIsolated Bilateral Cerebral Peduncular Infarction Manifesting Pseudobulbar Palsy and Quadriparesis: a Case Report.
Brain & NeuroRehabilitationNeurologic Outcomes After Prenatal Treatment of Twin-Twin Transfusion Syndrome.
Clinics in perinatologyMultidisciplinary clinic for care of children with complex obstructive sleep apnea.
International journal of pediatric otorhinolaryngologyGross Motor Function in Children with Congenital Zika Syndrome.
NeuropediatricsThird Cranial Nerve Palsy Presenting with Unilateral Diplopia and Strabismus in a 24-Year-Old Woman with COVID-19.
The American journal of case reportsUpdate on Neurological Manifestations of SARS-CoV-2.
The western journal of emergency medicineDevelopment of a community-based, one-stop service centre for children with developmental disorders: changing the narrative of developmental disorders in sub-Saharan Africa.
The Pan African medical journalThe neurodevelopmental spectrum of congenital Zika infection: a scoping review.
Developmental medicine and child neurologyThe impact of botulinum toxin type A in the treatment of drooling in children with cerebral palsy secondary to Congenital Zika Syndrome: an observational study.
Neurological researchOptimal timing of antenatal corticosteroid administration and preterm neonatal and early childhood outcomes.
American journal of obstetrics & gynecology MFMDopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review.
Medicine[Twin pregnancy and polymalformative syndrome by Enterovirus].
Revue medicale de LiegeAdvanced Progression of Scoliosis After Intrathecal Baclofen in an Adult With Stiff Person Syndrome: A Case Report.
A&A practiceA genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.
Brain & developmentDoes Whole-Body Vibration Treatment Make Children's Bones Stronger?
Current osteoporosis reportsNovel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.
International journal of molecular sciencesCongenital anomalies in children with pre- or perinatally acquired cerebral palsy: an international data linkage study.
Developmental medicine and child neurologyAntenatal corticosteroids and preterm offspring outcomes in hypertensive disorders of pregnancy: A Japanese cohort study.
Scientific reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de microbraquicefalia grave-transtorno do desenvolvimento intelectual-paralisia cerebral atetoide.
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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.
- The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
- Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.
- [Clinical analysis of neurologic complications in neonates during extracorporeal membrane oxygenation support].
- Standard work tools for managing pediatric baclofen pump infections and withdrawal.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2026· PMID 41863662mais citado
- Putamen Atrophy as a Predictive Factor of Efficacy of GPi-DBS in Dystonia-Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41851006mais citado
- Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex.
- Two-year results from Onyx ONE clear in patients with high bleeding risk on one-month DAPT with and without intracoronary imaging.
- Early management of sight threatening retinopathy in incontinentia pigmenti.
- Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects.
- A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1236(Orphanet)
- MONDO:0015252(MONDO)
- Esclerose Lateral Amiotrofica(PCDT · Ministério da Saúde)
- GARD:3482(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q51796815(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