Raras
Buscar doenças, sintomas, genes...
Síndrome de microbraquicefalia grave-transtorno do desenvolvimento intelectual-paralisia cerebral atetoide
ORPHA:1236CID-10 · Q87.8PCDT · SUSDOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura parcialScore: 65%
PCDT disponívelCentros em: PA, PE, CE, DF, SP +5CID-10: Q87.8
🇧🇷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

Partes do corpo afetadas

😀
Face
9 sintomas
🦴
Ossos e articulações
5 sintomas
🧠
Neurológico
4 sintomas
👁️
Olhos
2 sintomas
🧬
Pele e cabelo
2 sintomas
👂
Ouvidos
2 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

90%prev.
Braquicefalia
Muito frequente (99-80%)
90%prev.
Hipertelorismo
Muito frequente (99-80%)
90%prev.
Hipodontia
Muito frequente (99-80%)
90%prev.
Dermatoglifos anormais
Muito frequente (99-80%)
90%prev.
Comprometimento cognitivo
Muito frequente (99-80%)
90%prev.
Bossas frontais
Muito frequente (99-80%)
32sintomas
Muito frequente (19)
Frequente (13)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.

BraquicefaliaBrachycephaly
Muito frequente (99-80%)90%
HipertelorismoHypertelorism
Muito frequente (99-80%)90%
HipodontiaHypodontia
Muito frequente (99-80%)90%
Dermatoglifos anormaisAbnormal dermatoglyphics
Muito frequente (99-80%)90%
Comprometimento cognitivoCognitive impairment
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202239 papers
Linha do tempo
2026Hoje · 2026📈 2022Ano 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 — 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

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

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Publicações mais relevantes

🥈Melhor nível de evidência: Ensaio clínico
Timeline de publicações
0 papers (10 anos)
#1

The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.

Frontiers in pediatrics2026

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.

#2

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

medRxiv : the preprint server for health sciences2026 Mar 06

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.

#3

[Clinical analysis of neurologic complications in neonates during extracorporeal membrane oxygenation support].

Zhonghua er ke za zhi = Chinese journal of pediatrics2026 Feb 02

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。.

#4

Standard work tools for managing pediatric baclofen pump infections and withdrawal.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2026 Mar 21

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.

#5

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 Society2026 Mar 18

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.

Publicações recentes

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📚 EuropePMCmostrando 200

2026

The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.

Frontiers in pediatrics
2026

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

medRxiv : the preprint server for health sciences
2026

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

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

West Nile Virus Lineage 2 Neuroinvasive Infection Presenting as Intraparenchimal Cerebral Hemorrage.

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Effects of ultrasound-guided stellate ganglion block in poststroke bulbar palsy: a double-blind placebo-controlled trial.

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Recurrent Severe Hypothermia as a Manifestation of Central Thermoregulatory Dysfunction in a Patient With Cerebral Palsy and Shaken Baby Syndrome.

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Severe maternal morbidity is associated with increased risk of cerebral palsy in offspring.

American journal of obstetrics and gynecology
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Early onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.

Journal of clinical orthopaedics and trauma
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[Clinical analysis of neurologic complications in neonates during extracorporeal membrane oxygenation support].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2025

Breastfeeding initiation and duration: links to physical, mental and behavioural health in US children aged 3-5 years.

BMJ nutrition, prevention &amp; health
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Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.

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Neurodevelopmental outcomes in children and adults associated with antenatal corticosteroid exposure: a narrative review.

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Lennox-Gastaut syndrome: Comorbidities and clinical implications.

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[Benefits and risks of antenatal corticosteroids].

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[Epileptic encephalopathy associated with a mutation in the KCNT1 gene].

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Indications and timings for caffeine initiation in preterm infants.

The Cochrane database of systematic reviews
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Risk Estimates of Five Adverse Outcomes Following Hip and Spine Surgery Among Children with Cerebral Palsy to Inform Peri-operative Care.

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Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.

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Prevalence of Fragile X syndrome in Georgian patients with autism spectrum disorder and/or intellectual disability: cross-sectional study and review of current approaches.

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[Diagnosis and treatment dyskinesias in pediatrics].

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Neuroanatomical normative modelling in frontotemporal lobar degeneration: higher heterogeneity in the behavioural variant.

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Case Report of a Neonate with Severe Perinatal Asphyxia: A Multidisciplinary Approach Involving Therapeutic Hypothermia and Physiotherapy.

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Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

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Prevalence and Potential Risk Factors of Ocular Disorders Among Institutionalised Adults With Intellectual Disabilities-A City-Wide Survey in Taipei City.

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Sleep Disturbances and Obstructive Sleep Apnea in Children and Adolescents with Cerebral Palsy: An Observational Study.

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Perinatal Stroke and Cerebral Sinovenous Thrombosis Caused by Congenital Nephrotic Syndrome NPSH1 (Finnish Type): A Case Report.

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Comprehensive Examination of Upper-Extremity Spasticity.

The Journal of hand surgery
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The Attenuated Phenotype of CNTNAP1-Related Neuropathy Mimics Spastic-Dystonic Cerebral Palsy.

American journal of medical genetics. Part A
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Intrapartum Sildenafil to Improve Perinatal Outcomes: A Randomized Clinical Trial.

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Investigation of Sleep Patterns and Electroencephalographic Characteristics in Children With Microcephaly Associated With Congenital Zika Syndrome and Severe Cerebral Palsy.

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Hexasomy of the 15q11q13 region: a detailed report and review of the literature.

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Macrophage Activation Syndrome Revealing Hodgkin Lymphoma: A Pediatric Case Report.

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Arginase 1 deficiency: a treatable form of spastic paraplegia.

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Prediction Models for Risk of Cardiorespiratory Morbidity/Mortality and Fracture Among Young Adults With Cerebral Palsy.

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Prevalence, Socio-Demographic Characteristics, and Co-Morbidities of Autism Spectrum Disorder in US Children: Insights from the 2020-2021 National Survey of Children's Health.

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Primitive reflexes in infants with cerebral palsy due to Congenital Zika Syndrome and its relationship with other motor features.

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Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features.

American journal of medical genetics. Part A
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A Case Report of a Child With Rare Phosphatidylinositol Glycan Anchor Biosynthesis Class N (PIGN) Gene Mutation With Hypotonia, Epilepsy, and Global Developmental Delay.

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Successful treatment with teduglutide for an adolescent with cerebral palsy accompanied by short bowel syndrome.

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Hydranencephaly: exploring the role of CT features in the diagnosis of 22 cases.

Malawi medical journal : the journal of Medical Association of Malawi
2025

Outpatient Management of Clinical Comorbidities in Children With Cerebral Palsy in Low- and Middle-Income Countries.

Child: care, health and development
2024

Comparison of Chairside Cooperative Ability with Social Quotient of Mentally Challenged Children.

International journal of clinical pediatric dentistry
2024

Posterior Reversible Encephalopathy Syndrome in the Context of McCune-Albright Syndrome: A Case Report.

Cureus
2025

Human umbilical cord mesenchymal stem cell-derived exosomes combined with mouse nerve growth factor can more effectively ameliorate the motor disorder and brain pathological injury in mice with cerebral palsy.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University
2024

Disabilities and Disparities in Oral Health-Related Quality of Life: A Systematic Review and Meta-Analysis in Saudi Arabia.

Medicina (Kaunas, Lithuania)
2025

Translation, Cross-Cultural Adaptation and Validation of the Karaduman Chewing Performance Scale for the Italian Paediatric Population.

Journal of evaluation in clinical practice
2024

Neurodevelopment of Critical ILL Neonates at the Age of 12 Months.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2025

Prevalence and Characteristics of Developmental Disabilities Among Children Who Receive Hearing Health Care.

American journal of audiology
2024

Multimodal surgical strategy for mixed refractory hypertonia in a patient with cerebral palsy: C1-2 puncture and pectoral pocket for baclofen pump implantation following lumbosacral ventral-dorsal rhizotomy. Illustrative case.

Journal of neurosurgery. Case lessons
2024

Aquatic Therapy in Children and Adolescents with Disabilities: A Scoping Review.

Children (Basel, Switzerland)
2024

Unique Clinical and Psychiatric Challenges in Elderly Patients With Guillain-Barré Syndrome: A Case Series.

Cureus
2026

Neurotoxicity associated with chimeric antigen receptor T-cell therapy: a real-world study leveraging the FDA Adverse Event Reporting System.

Expert opinion on drug safety
2024

Clinical features of Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuritis associated with SLE.

Lupus science &amp; medicine
2024

Life-threatening presentation of an acute cerebellar ischemic stroke secondary to a protein C deficiency.

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

Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.

International journal of molecular sciences
2024

A case report of spastic diplegic cerebral palsy in a late preterm child with hypoplastic left heart syndrome.

Translational pediatrics
2025

Successful Electroconvulsive Therapy in Aicardi-Goutières Syndrome Presenting Psychiatric Symptoms: An Unprecedented Clinical Case.

The journal of ECT
2024

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants.

Molecular syndromology
2024

Clinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development.

Revista da Sociedade Brasileira de Medicina Tropical
2024

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

Medicine
2024

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.

HGG advances
2025

Assessing aspects of early social communication in non-speaking children with bilateral cerebral palsy.

Disability and rehabilitation
2025

Long-term developmental outcomes of children with congenital Zika syndrome.

Pediatric research
2025

Veno-venous extracorporeal membrane oxygenation in managing acute respiratory distress syndrome associated with hemolytic uremic syndrome and septic shock: a case report.

Journal of artificial organs : the official journal of the Japanese Society for Artificial Organs
2024

Clinical characteristics, associated comorbidities and hospital outcomes of neonates with sleep disordered breathing: a retrospective cohort study.

BMJ paediatrics open
2024

Long-Term Pulmonary and Neurodevelopmental Outcomes of Meconium Aspiration Syndrome Affected Infants: A Retrospective National Population-Based Study in Taiwan.

Neonatology
2024

Electroacupuncture stimulation modulates functional brain connectivity in the treatment of pediatric cerebral palsy: a case report.

Frontiers in psychiatry
2024

Botulinum Toxin Type A in the Treatment of Raynaud's Syndrome: A Case Report.

Cureus
2024

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

Genes
2024

Association of congenital heart disease and neurodevelopmental disorders: an observational and Mendelian randomization study.

Italian journal of pediatrics
2024

Cervical dorsal rhizotomy for upper limbs spasticity. Case report.

Acta neurochirurgica
2024

Pediatric Spastic Wrist Contractures Can Be Well Managed With Wrist Arthrodesis.

Journal of pediatric orthopedics
2024

Staging of progressive supranuclear palsy-Richardson syndrome using MRI brain charts for the human lifespan.

Brain communications
2024

Identifying and Evaluating Young Children with Developmental Central Hypotonia: An Overview of Systematic Reviews and Tools.

Healthcare (Basel, Switzerland)
2024

Respiratory Severity Score and Neurodevelopmental Outcomes at Age 3 Years in Extremely Preterm Infants.

American journal of perinatology
2024

Case report: Lateral medullary syndrome with eight-and-a-half syndromes.

Medicine
2025

The Association of Quality of Life with Psychosocial Factors in Adolescents with Tourette Syndrome.

Child psychiatry and human development
2024

Distinct manifestations and potential mechanisms of seizures due to cortical versus white matter injury in children.

Epilepsy research
2023

Malignant Middle Cerebral Artery Infarct Caused by Eagle's Syndrome.

Cureus
2023

Morphological and functional cardiac alterations in children with congenital Zika syndrome and severe neurological deficits.

PLoS neglected tropical diseases
2023

Abdominal Compartment Syndrome Secondary to Constipation in an Adult Patient With Cerebral Palsy.

Cureus
2024

Death of children with Down syndrome by gestational age and cause.

Pediatric research
2023

Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe.

Neurology
2023

Chronic fatigue syndrome in caregivers of children with cerebral palsy and affecting factors.

Northern clinics of Istanbul
2024

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.

The journal of gene medicine
2023

Adverse Fetal Outcomes and Histopathology of Placentas Affected by COVID-19: A Report of Four Cases.

Cureus
2023

Sentence Length Effects on Intelligibility in Two Groups of Older Children With Neurodevelopmental Disorders.

American journal of speech-language pathology
2023

Chronic Neurological Disorders and Predisposition to Severe COVID-19 in Pediatric Patients in the United States.

Pediatric neurology
2023

Imaging of developmental delay in black African children: A hospital-based study in Yaoundé-Cameroon.

African health sciences
2023

A Probable Association of Aseptic Meningoencephalitis, Complicated With Cerebral Salt Wasting Syndrome Following COVID-19 Vaccination: A Case Report.

Cureus
2023

Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy.

Global medical genetics
2023

Prescription Opioid Use for Adolescents With Neurocognitive Disability Undergoing Surgery: A Pilot Study.

The Journal of surgical research
2023

Striatal dopamine transporter binding differs between dementia with Lewy bodies and Parkinson's disease with dementia.

Journal of the neurological sciences
2023

Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report.

Biomedicines
2023

Parents of Children Diagnosed with Congenital Anomalies or Cerebral Palsy: Identifying Needs in Interaction with Healthcare Services.

Children (Basel, Switzerland)
2023

Methods and results of neurosurgical treatment of cerebral palsy.

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2023

Indomethacin Prophylaxis Is Associated with Reduced Risk of Intraventricular Hemorrhage in Extremely Preterm Infants Born in the Context of Amniotic Infection Syndrome.

Neonatology
2023

Exploring 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)
2023

Neonatal and developmental outcomes of very preterm twins according to the chorionicity and weight discordance.

Scientific reports
2023

Thyroid function and associated mood changes after COVID-19 vaccines in patients with Hashimoto thyroiditis.

Frontiers in immunology
2023

Dimensional Assessment of Depression and Anxiety in a Clinical Sample of Adults With Chronic Tic Disorder.

The Journal of neuropsychiatry and clinical neurosciences
2023

Chorionicity and neurodevelopmental outcomes at 5½ years among twins born preterm: the EPIPAGE2 cohort study.

BJOG : an international journal of obstetrics and gynaecology
2023

Health-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 Paulo
2023

Meconium-stained amniotic fluid.

American journal of obstetrics and gynecology
2023

MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report.

The Journal of international medical research
2023

Co-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 diseases
2022

Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort.

Annals of Indian Academy of Neurology
2023

Investigation of Neurological Complications after COVID-19 Vaccination: Report of the Clinical Scenarios and Review of the Literature.

Vaccines
2023

Causes of death in children with congenital Zika syndrome in Brazil, 2015 to 2018: A nationwide record linkage study.

PLoS medicine
2023

GERD 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 pediatrics
2023

Laparoscopic Repair of Morgagni Hernia in Children.

Journal of pediatric surgery
2023

Impaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function.

bioRxiv : the preprint server for biology
2022

Acquired Hip Dysplasia in Children with Congenital Zika Virus Infection in the First Four Years of Life.

Viruses
2023

Neurological Complications Following COVID-19 Vaccination.

Current neurology and neuroscience reports
2023

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Clinical genetics
2022

Vertebral artery dissection induced lateral medullary syndrome characterized with severe bradycardia: a case report and review of the literature.

Annals of palliative medicine
2023

Neurodevelopmental outcome after antenatal therapy for fetal supraventricular tachyarrhythmia: 3-year follow-up of multicenter trial.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

What Radiographic and Clinical Factors Ultimately Necessitate a C2-Sacrum Instrumented Posterior Spinal Fusion?

Global spine journal
2022

Central Pontine Myelinolysis: A Case Report of Persistent Hyperglycemia With Normal Serum Sodium.

Cureus
2022

The 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).

Genomics
2022

Difficult intubation and postoperative aspiration pneumonia associated with Moebius syndrome: a case report.

BMC anesthesiology
2022

Risk of COVID-19 hospitalizations among school-aged children in Scotland: A national incident cohort study.

Journal of global health
2022

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Movement disorders : official journal of the Movement Disorder Society
2022

SARS-CoV-19-associated Rhino-orbital and cerebral mucormycosis: clinical and radiological presentations.

Medical mycology
2023

Multisystem Inflammatory Syndrome in a Newborn (MIS-N): Clinical Evidence and Neurodevelopmental Outcome.

Current pediatric reviews
2022

Long-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 &amp; adolescent health
2022

ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.

Neuropediatrics
2022

The feasibility, safety, and efficacy of Paxlovid treatment in SARS-CoV-2-infected children aged 6-14 years: a cohort study.

Annals of translational medicine
2022

The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series.

Frontiers in neurology
2022

Longitudinal Follow-Up of Gross Motor Function in Children with Congenital Zika Virus Syndrome from a Cohort in Rio de Janeiro, Brazil.

Viruses
2022

A Case of Pathologically Confirmed Corticobasal Degeneration Initially Presenting as Progressive Supranuclear Palsy Syndrome.

Journal of Korean medical science
2022

Pathologically Verified Corticobasal Degeneration Mimicking Richardson's Syndrome Coexisting with Clinically and Radiologically Shunt-Responsive Normal Pressure Hydrocephalus.

Movement disorders clinical practice
2022

At-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 health
2022

Infants prenatally exposed to SARS-CoV-2 show the absence of fidgety movements and are at higher risk for neurological disorders: A comparative study.

PloS one
2022

Predictors of hospitalisation and death due to SARS-CoV-2 infection in Finland: A population-based register study with implications to vaccinations.

Vaccine
2022

Hypoxic Ischemic Encephalopathy (HIE) in Term and Preterm Infants.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2022

Aureobasidium melanigenum catheter-related bloodstream infection: a case report.

BMC infectious diseases
2022

Neurodevelopment in Children Exposed to Zika in utero: Clinical and Molecular Aspects.

Frontiers in genetics
2022

Simple 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 biomechanics
2022

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.

The Tohoku journal of experimental medicine
2022

Unusual presentation of acute encephalopathy with biphasic seizures and late reduced diffusion in Miller-Dieker syndrome.

BMJ case reports
2022

Prevention of perinatal depression with counseling in adolescents: a cost-effectiveness analysis.

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
2022

Antenatal Betamethasone Every 12 Hours in Imminent Preterm Labour.

Journal of clinical medicine
2022

Lemierre's syndrome complicated by cerebral venous sinus thrombosis: A life threatening and rare disease successfully treated with empiric antimicrobial therapy and conservative approach.

Intractable &amp; rare diseases research
2024

Prediction of Cerebral Palsy or Death among Preterm Infants Who Survive the Neonatal Period.

American journal of perinatology
2022

Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies.

Developmental medicine and child neurology
2022

Children with severe disabilities: adaptation, virtual education, and prospects. Experiences of three Peruvian mothers, COVID-19 context.

Journal of medicine and life
2022

Racial-ethnic inequities in age at death among adults with/without intellectual and developmental disability in the United States.

Preventive medicine
2022

Home mechanical ventilation for children with severe neurological impairment: Parents' perspectives on clinician counselling.

Developmental medicine and child neurology
2022

Severe 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 Diseases
2022

Predicting the impact of intraoperative halo-femoral traction from preoperative imaging in neuromuscular scoliosis.

Spine deformity
2022

Epilepsy and EEG Abnormalities in Congenital Zika Syndrome.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2022

Symptom 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 Medicine
2021

The impact of asymmetry on the radiographical outcomes following hip reconstruction in patients with cerebral palsy.

Journal of children's orthopaedics
2021

Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.

Epilepsy &amp; behavior : E&amp;B
2021

Nasal trumpet as a long-term remedy for obstructive sleep apnea syndrome in a child.

SAGE open medical case reports
2021

Treating Aggression and Self-destructive Behaviors by Stimulating the Nucleus Accumbens: A Case Series.

Frontiers in neurology
2021

Development Delay in a Child with Microcephaly and Birth Asphyxia: Explore Diagnosis beyond Hypotonic Cerebral Palsy.

Journal of pediatric neurosciences
2021

Clinical Spectrum and Neuroimagistic Features in Hospitalized Patients with Neurological Disorders and Concomitant Coronavirus-19 Infection.

Brain sciences
2021

NAC and Vitamin D Improve CNS and Plasma Oxidative Stress in Neonatal HIE and Are Associated with Favorable Long-Term Outcomes.

Antioxidants (Basel, Switzerland)
2021

Reversible cerebral vasoconstriction syndrome with basilar artery stenosis: A case report.

Medicine
2022

Neurodevelopmental Trajectories of Preterm Born Survivors of Twin-Twin Transfusion Syndrome: From Birth to 5 Years of Age.

The Journal of pediatrics
2021

Acute colonic pseudo-obstruction (Ogilvie syndrome) leading to respiratory compromise and death.

Journal of forensic sciences
2022

Molecular pathology and synaptic loss in primary tauopathies: an 18F-AV-1451 and 11C-UCB-J PET study.

Brain : a journal of neurology
2021

Isolated acute pseudobulbar palsy with infarction of artery of percheron: case report and literature review.

African health sciences
2021

Hip Displacement in MECP2 Disorders: Prevalence and Risk Factors.

Journal of pediatric orthopedics
2021

Neonatal encephalopathy: Focus on epidemiology and underexplored aspects of etiology.

Seminars in fetal &amp; neonatal medicine
2021

Risks of covid-19 hospital admission and death for people with learning disability: population based cohort study using the OpenSAFELY platform.

BMJ (Clinical research ed.)
2021

[Refeeding syndrome in a girl with cerebral palsy].

Anales del sistema sanitario de Navarra
2021

Clinical Characteristics and Outcomes of COVID-19 in Children in Northern Iran.

International journal of pediatrics
2021

Autism medical comorbidities.

World journal of clinical pediatrics
2021

Sleep-related breathing disorders associated with intrathecal baclofen therapy to treat patients with cerebral palsy: A cohort study and discussion.

NeuroRehabilitation
2021

[Simultaneous Bilateral Femoral Osteotomies in Neurogenic Hip Instability: a Feasibility Study].

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca
2021

The Impact of Eye-gaze Controlled Computer on Communication and Functional Independence in Children and Young People with Complex Needs - A Multicenter Intervention Study.

Developmental neurorehabilitation
2021

Speech and Language in 5-year-olds with Different Neurological Disabilities and the Association between Early and Later Consonant Production.

Developmental neurorehabilitation
2022

Ophthalmic complications of Lemierre syndrome.

Acta ophthalmologica
2021

Muscle Tone Assessment under General Anesthesia for Sjögren-Larsson Syndrome and Spasticity.

Pediatric neurosurgery
2021

Melatonin for the prevention of fetal injury associated with intrauterine inflammation.

American journal of reproductive immunology (New York, N.Y. : 1989)
2021

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome.

Human genomics
2021

Treatment 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 Dentistry
2021

Diagnosis and patterns of hearing loss in children with severe developmental delay.

American journal of otolaryngology
2021

Isolated Bilateral Cerebral Peduncular Infarction Manifesting Pseudobulbar Palsy and Quadriparesis: a Case Report.

Brain &amp; NeuroRehabilitation
2020

Neurologic Outcomes After Prenatal Treatment of Twin-Twin Transfusion Syndrome.

Clinics in perinatology
2020

Multidisciplinary clinic for care of children with complex obstructive sleep apnea.

International journal of pediatric otorhinolaryngology
2021

Gross Motor Function in Children with Congenital Zika Syndrome.

Neuropediatrics
2020

Third Cranial Nerve Palsy Presenting with Unilateral Diplopia and Strabismus in a 24-Year-Old Woman with COVID-19.

The American journal of case reports
2020

Update on Neurological Manifestations of SARS-CoV-2.

The western journal of emergency medicine
2020

Development 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 journal
2020

The neurodevelopmental spectrum of congenital Zika infection: a scoping review.

Developmental medicine and child neurology
2021

The 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 research
2020

Optimal timing of antenatal corticosteroid administration and preterm neonatal and early childhood outcomes.

American journal of obstetrics &amp; gynecology MFM
2020

Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review.

Medicine
2020

[Twin pregnancy and polymalformative syndrome by Enterovirus].

Revue medicale de Liege
2020

Advanced Progression of Scoliosis After Intrathecal Baclofen in an Adult With Stiff Person Syndrome: A Case Report.

A&amp;A practice
2020

A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.

Brain &amp; development
2020

Does Whole-Body Vibration Treatment Make Children's Bones Stronger?

Current osteoporosis reports
2020

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.

International journal of molecular sciences
2021

Congenital anomalies in children with pre- or perinatally acquired cerebral palsy: an international data linkage study.

Developmental medicine and child neurology
2020

Antenatal corticosteroids and preterm offspring outcomes in hypertensive disorders of pregnancy: A Japanese cohort study.

Scientific reports

Associações

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Ainda não temos associações cadastradas para Síndrome de microbraquicefalia grave-transtorno do desenvolvimento intelectual-paralisia cerebral atetoide.

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
    Frontiers in pediatrics· 2026· PMID 41867922mais citado
  2. Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.
    medRxiv : the preprint server for health sciences· 2026· PMID 41867234mais citado
  3. [Clinical analysis of neurologic complications in neonates during extracorporeal membrane oxygenation support].
    Zhonghua er ke za zhi = Chinese journal of pediatrics· 2026· PMID 41539955mais citado
  4. 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
  5. 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
  6. Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex.
    Orphanet J Rare Dis· 2024· PMID 38409029recente
  7. Two-year results from Onyx ONE clear in patients with high bleeding risk on one-month DAPT with and without intracoronary imaging.
    Cardiovasc Revasc Med· 2024· PMID 37550123recente
  8. Early management of sight threatening retinopathy in incontinentia pigmenti.
    Orphanet J Rare Dis· 2020· PMID 32854719recente
  9. Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects.
    Orphanet J Rare Dis· 2017· PMID 28088251recente
  10. A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7.
    Orphanet J Rare Dis· 2016· PMID 27333979recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1236(Orphanet)
  2. MONDO:0015252(MONDO)
  3. Esclerose Lateral Amiotrofica(PCDT · Ministério da Saúde)
  4. GARD:3482(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Compêndio · Raras BR

Síndrome de microbraquicefalia grave-transtorno do desenvolvimento intelectual-paralisia cerebral atetoide

ORPHA:1236 · MONDO:0015252
🇧🇷 Brasil SUS
Geral
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
No data available
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5190778
Wikidata
Evidência
🥈 Ensaio clínico
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