Microcefalia congênita isolada é uma condição rara caracterizada por cabeça significativamente menor que o normal ao nascer. Pode apresentar atraso no desenvolvimento motor, problemas oculares (esotropia, nistagmo), anomalias dentárias e renais, além de hipoplasia dos lobos frontais.
Introdução
O que você precisa saber de cara
Visão geral
Sinais e sintomas
As manifestações neurológicas e do neurodesenvolvimento incluem microcefalia progressiva, habilidade atrasada de andar, morfologia cerebral anormal, morfologia anormal do cerebelo, atrofia cerebral, anormalidade do córtex cerebral, hipoplasia dos lobos frontais e morfologia neuronal anormal.[1][2]
Podem ocorrer alterações craniofaciais e oftálmicas como esotropia alternada, nistagmo horizontal, glaucoma, ptose, telecanto, sinofris, columela pendente, orelha proeminente, boca aberta e agenesia dentária.[1][2]
Entre outros achados musculoesqueléticos e sistêmicos, relatam-se baixa estatura grave, morfologia anormal do osso cortical, talipes equinovarus bilateral, contratura em flexão do joelho, polegar aduzido, agenesia renal unilateral e refluxo vesicoureteral.[1][2]
Causas genéticas
Diagnóstico
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A microencefalia é uma condição congênita em que a cabeça e o cérebro do bebê não se desenvolvem como esperado, manifestando-se antes do parto ou logo nos primeiros dias de vida. As famílias costumam notar alterações como atraso no desenvolvimento motor, rigidez nos membros e particularidades nos olhos ou na face. Não existe um medicamento que cure a condição, mas o SUS disponibiliza o atendimento de reabilitação e exames genéticos na rede pública de saúde.
Microcefalia congênita isolada é uma condição rara caracterizada por cabeça significativamente menor que o normal ao nascer. Pode apresentar atraso no desenvolvimento motor, problemas oculares (esotropia, nistagmo), anomalias dentárias e renais, além de hipoplasia dos lobos frontais.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 79 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 216 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
38 genes identificados com associação a esta condição.
Meckel syndrome 12
A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
An autosomal recessive disorder characterized by global developmental delay, short stature, severely impaired intellectual development, microcephaly, poor or absent speech, and behavioral abnormalities including autistic features and aggressive behavior.
Leukodystrophy, hypomyelinating, 10
An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume.
Neurodevelopmental disorder with microcephaly, ataxia, and seizures
An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, seizures apparent in infancy, impaired speech, and aggressive behavior. Additional features include microcephaly, ataxia, and muscle weakness.
Familial paroxysmal ventricular fibrillation 2
A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity.
Intellectual developmental disorder, autosomal recessive 60
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly.
Intellectual developmental disorder, autosomal recessive 72
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features.
Neuronopathy, distal hereditary motor, autosomal dominant 9
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND9 is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs.
Microcephaly 10, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation.
Microcephaly 24, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly.
Microcephaly 25, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH25 patients additionally manifest global developmental delay, severe intellectual disability with speech impairment, attention deficit-hyperactivity disorder, and reduced white matter and thin corpus callosum on brain imaging.
Microcephaly 18, primary, autosomal dominant
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH18 affected individuals manifest microcephaly with mild to moderate intellectual disability.
Microcephaly 23, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 11, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 13, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 29, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH29 is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures.
Microcephaly 19, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination.
Microcephaly 28, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH28 is an autosomal recessive form characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood.
Microcephaly 12, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 6, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Microcephaly 16, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 22, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 14, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 30, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH30 is characterized by small head, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals may also have variable congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth.
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
A disease characterized by microcephaly, moderate to severe intellectual disability, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.
Microcephaly 17, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH17 is a severe form characterized by lissencephaly, enlarged ventricles, agenesis of the corpus callosum, cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features.
Microcephaly 1, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.
Microcephaly 9, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
An autosomal recessive disorder characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death.
Microcephaly 8, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Microcephaly 3, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Partial acquired lipodystrophy
A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Intellectual disability in some cases. APLD is a sporadic disorder of unknown etiology.
Microcephaly 21, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly.
Microcephaly 5, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis.
Variantes genéticas (ClinVar)
273 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
110 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 — Microencefalia
Centros de Referência SUS
24 centros habilitados pelo SUS para Microencefalia
Centros para Microencefalia
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
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 UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
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 Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
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 São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
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 Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
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 Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
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
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
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
[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].
Axenfeld-Rieger syndrome/anomaly (ARS) is a rare genetic disorder with an autosomal dominant inheritance pattern, characterized by dysgenesis of the anterior segment of the eye. It may present with systemic anomalies (Axenfeld-Rieger syndrome) or without (Axenfeld anomaly) and may sometimes be associated with multiple congenital malformations. The estimated prevalence ranges from 1 in 50,000 to 1 in 200,000 live births, with an approximate rate of 1 in 100,000, but no epidemiological studies have been conducted to date. A clinical diagnosis of Axenfeld-Rieger syndrome requires the presence of both Axenfeld and Rieger ocular anomalies, accompanied by extraocular systemic features. Ocular manifestations include iris abnormalities, posterior embryotoxon, juvenile-onset glaucoma (a common complication), and dysgenesis of the iridocorneal angle with iridocorneal adhesions. The most commonly observed systemic anomalies include: umbilical defects; craniofacial dysmorphism; dentofacial abnormalities, such as Class III malocclusion due to maxillary hypoplasia, oligodontia, dental malformations (taurodontism, root dysplasia), microdontia, hypodontia, and anodontia; hearing impairment (partial or complete sensorineural hearing loss); and cardiac anomalies, including non-congenital heart disease and mitral valve insufficiency. Additional anomalies may include hypospadias in males, anal stenosis, endocrine disorders (notably growth retardation) secondary to pituitary dysfunction, psychomotor delay, and various neurological malformations such as Dandy-Walker malformation, mega cisterna magna, posterior fossa cysts, cerebellar vermis hypoplasia, ventriculomegaly, aprosencephaly, cerebral atrophy, microcephaly, arteriovenous malformations (AVM), and digital anomalies such as camptodactyly. Diagnosis is typically made in infancy, based on iris anomalies such as corectopia (displacement of the pupil), polycoria (multiple pupils), and iris hypoplasia. Posterior embryotoxon is frequently observed upon slit-lamp examination. Given the clinical variability, a comprehensive pediatric assessment is essential to identify systemic anomalies and distinguish Axenfeld-Rieger syndrome from the isolated Axenfeld anomaly.
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.
ATP6AP2 splicing variants cause syndromic X-linked intellectual disability Hedera type (XPDS; OMIM#300423) and X-linked parkinsonism with spasticity (MRXSH; OMIM#300911). Alternatively, ATP6AP2 missense variants lead to hepatopathy, immunological abnormalities, cutis laxa and only mild intellectual disability with N-/O-glycosylation defects (ATP6AP2-CDG; OMIM#301045). The disparity between neurological and hepatic ATP6AP2-related disease entities is an ongoing puzzle. We aimed to investigate whether patients with an isolated neurological presentation of ATP6AP2-related disease, consistent with XPDS/MRXSH, also have abnormal glycosylation biomarkers, potentially implicating this as part of the pathological mechanism. We identified three males and one female from three families with ATP6AP2 splicing variants and ID/DD, epilepsy, axial hypotonia, axonal neuropathy and microcephaly; the heterozygous female has a milder phenotype. RNA-Seq in patient-derived fibroblasts validated defective splicing, correlated with lowered ATP6AP2 protein levels in fibroblasts alongside glycosylation abnormalities. We describe defective glycosylation alongside ATP6AP2 splicing variants in four patients, including the first female with ATP6AP2-related disease. This connects more closely the phenotypes of XPDS/MRXSH and ATP6AP2-CDG and indicates that abnormal glycosylation markers may be a consistent feature of splicing variants, and potentially part of the pathological mechanism underlying ATP6AP2-related disease caused by abnormal splicing. We also provide additional evidence that neurodevelopment is uniquely sensitive to the gene dosage of ATP6AP2, linked to the isolated neurological phenotype found in patients with splice variants and the attenuated, but still severe, phenotype of the female in our study. Glycosylation defects can be found in "splicing" forms of ATP6AP2-related diseases, bridging the gap between XPDS, MRXSH and ATP6AP2-CDG.
Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.
Ectodermal dysplasias are clinically and genetically heterogeneous congenital disorders characterized by abnormal development of at least two of the four ectodermal tissues: teeth, hair, nails, and sweat glands. In this study, we summarized the clinical and molecular characteristics of the patients and contributed to the genotype-phenotype correlation. For genetic diagnosis, single-gene testing, clinical exome sequencing, whole-exome sequencing, and variant confirmation analyses were performed. In this study, 30 ectodermal dysplasia patients from 18 families and six patients with isolated ectodermal anomalies from three families were analyzed. A total of 21 unique variants were identified, five of which were novel. Of these, seven were classified as pathogenic, 11 as likely pathogenic, and three as variants of uncertain significance (LIPH, TSPEAR, HR). Hypohidrotic ectodermal dysplasia was the most frequently identified subtype, with variants in the EDAR gene found in 10 patients and in the EDA gene in seven patients. Two patients harbored WNT10A variants. Variants in the CDH3 gene were identified in six patients with macular degeneration. Additionally, variants in the LIPH and LPAR6 genes were detected in three patients presenting with woolly hair. In the remaining eight patients, variants were identified in the HR, TSPEAR, TP63, DSG1, and CST6 genes. Microcephaly was observed in 47% (8/17) of patients in the hypohidrotic ectodermal dysplasia group (EDA, EDAR) and in 66% (4/6) of patients carrying CDH3 variants. The patient with a TSPEAR variant also had Beckwith-Wiedemann syndrome. Our clinical findings, together with the identification of novel variants in EDAR, LIPH, LPAR6, HR, and TP63, expand the clinical and molecular spectrum of ectodermal dysplasias. A potential association between microcephaly and ectodermal dysplasia is discussed. This study highlights the genetic heterogeneity of ectodermal dysplasias and emphasizes the importance of combining detailed clinical evaluation with molecular diagnostics. • Ectodermal dysplasias (EDs) are congenital disorders characterized by abnormal development of at least two of four ectodermal structures, such as hair, nails, teeth, and sweat glands. EDs represent a clinically and genetically heterogeneous group of disorders with over 200 distinct types described. • In the current study, we report the clinical and molecular genetic analysis of 36 patients and contribute to the genotype-phenotype correlation. Five novel variants were identified. Microcephaly was observed in 47% of patients in the hypohidrotic ectodermal dysplasia group and in 66% of patients carrying CDH3 variants. The patient with a TSPEAR variant also had Beckwith-Wiedemann syndrome.
Isolated, severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus infection in a late preterm neonate.
This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine. The patient was started on valganciclovir for 6 months, and despite the significant cerebellar hypoplasia, the clinical course was benign, with normal respiratory and feeding functions. Physical examination showed microcephaly, hypotonia and partial bilateral hearing loss. Follow-up showed persistent hypotonia but normal developmental progression otherwise. This case is notable for isolated cerebellar hypoplasia without other common cCMV-related radiological abnormalities, highlighting the need for further exploration into the atypical presentations of cCMV.
Long-term impact of congenital Zika virus infection on the rat hippocampus: Neuroinflammatory, glial alterations and sex-specific effects.
Congenital Zika Syndrome (CZS) is a condition that arises when a neonate presents with abnormalities resulting from Zika virus infection during gestation. While microcephaly is a prominent feature of the syndrome, other forms of brain damage are also observed, often accompanied by significant neurological complications. It is therefore essential to investigate the long-term effects of CZS, with special attention to sex differences, particularly concerning hippocampal function, given its vulnerability to viral infections. The aim of this study was to evaluate the long-term impacts on cognitive and memory functions, as well as neuroinflammatory and glial alterations in the hippocampus, in offspring of both sexes exposed to a model of congenital Zika virus infection. Pregnant rats were subcutaneously inoculated with ZIKV-BR at a dose of 1 × 10^7 plaque-forming units (PFU mL^-1) of ZIKV isolated in Brazil (ZIKV-BR) on gestational day 18 (G18). From postnatal day 70, the animals underwent behavioral tests. On postnatal day 80, the animals were euthanized, and hippocampal samples were collected for biochemical and histological analyses. In the open field test, females displayed more exploratory behavior and less grooming, while no significant differences in locomotion were observed between the sexes. Additionally, ZIKV-exposed females showed a reduction in grooming behavior compared to ZIKV-exposed males. In the memory test, males in the ZIKV group exhibited greater memory impairment, spending more time to locate the correct quadrant, while females showed relatively better performance. Neuroinflammatory markers, such as TNF-α, were significantly elevated in the hippocampus of ZIKV-exposed animals, regardless of sex. However, microglial and astrocytic responses, indicated by higher IBA1 and GFAP density, were only observed in male ZIKV rats. In conclusion, our findings suggest that congenital ZIKV exposure leads to sex-specific behavioral and neuroinflammatory alterations. While both males and females exhibited some behavioral changes, males were more significantly impacted in memory performance. Additionally, increased neuroinflammatory markers and glial activation were observed in the hippocampus of ZIKV-exposed animals, with a pronounced response in males. These results highlight the long-term impact of ZIKV infection on neurodevelopment, emphasizing the importance of considering sex differences in studies of congenital ZIKV syndrome.
Publicações recentes
Analysis of neuromuscular blockade use and prognosis in resuscitation of isolated congenital diaphragmatic hernia: data from Japanese CDH Study Group.
A missing roof: Congenital orbital dystopia secondary to orbital roof defect.
Growth-Based Decision-Making in Congenital Scoliosis with Multiple Vertebral Anomalies.
Giant Isolated Congenital Left Atrial Appendage Aneurysm Complicated by Thrombus: Multimodality Imaging Assessment.
"Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".
📚 EuropePMCmostrando 199
[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].
Journal francais d'ophtalmologieA rare case of mosaic monosomy 21 in a Moroccan patient: clinical findings and insights from a systematic review.
Clinical dysmorphologyATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.
Journal of inherited metabolic diseaseEctodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.
European journal of pediatricsA New Threat on the Rise: Oropouche Viral Infection.
Annals of African medicineChromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.
Case reports in geneticsEpidemiological Surveillance of Genetically Determined Microcephaly in Latin America: A Narrative Review.
Epidemiologia (Basel, Switzerland)Quantification of Zika virus using a colloidal gold nanoparticle-based immunosensor and Fourier-transform infrared spectroscopy.
Journal of virological methodsAudiological Outcomes of Cytomegalovirus Saliva PCR-Positive Newborns in Support of Universal Screening.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryThe first trimester human placenta responds to Zika virus infection inducing an interferon (IFN) and antiviral interferon stimulated gene (ISG) response.
Virology journalRoutine 36-week scan: diagnosis of fetal abnormalities.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyAn outbreak of Zika virus in western India in the metropolis of Pune in the monsoon of 2024.
Journal of infection and public healthScreening frequency for congenital cytomegalovirus in Flanders, Belgium - a multicentre retrospective study.
Acta clinica BelgicaIsolated, severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus infection in a late preterm neonate.
BMJ case reportsLong-term impact of congenital Zika virus infection on the rat hippocampus: Neuroinflammatory, glial alterations and sex-specific effects.
Brain researchNewborns with microcephaly in Brazil and potential vertical transmission of Oropouche virus: a case series.
The Lancet. Infectious diseasesOropouche Virus (OROV) in Pregnancy: An Emerging Cause of Placental and Fetal Infection Associated with Stillbirth and Microcephaly following Vertical Transmission.
VirusesDiagnostic Utility of Preserved Dried Umbilical Cord Polymerase Chain Reaction in Intrauterine Herpes Simplex Virus Infection: A Case Report and Literature Review.
NeonatologyClinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development.
Revista da Sociedade Brasileira de Medicina TropicalPfAgo-Based Zika Virus Detection.
VirusesGenetic Counseling of Fetal Microcephaly.
Journal of medical ultrasoundPrenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Ocular immunology and inflammationNeuroinflammation, blood-brain barrier dysfunction, hippocampal atrophy and delayed neurodevelopment: Contributions for a rat model of congenital Zika syndrome.
Experimental neurologyClinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Molecular neurobiologyCongenital Zika Virus Infection Impairs Corpus Callosum Development.
VirusesThe Zika virus: an opportunity to revisit reproductive health needs and disparities.
GermsAssessing the role of Ndel1 oligopeptidase activity in congenital Zika syndrome: Potential predictor of congenital syndrome endophenotype and treatment response.
Journal of neurochemistryLens Coloboma: A Rare Association of Congenital Rubella Syndrome.
CureusSleep in children from northeastern Brazil with congenital Zika syndrome: assessment using polysomnography.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineAn effective live-attenuated Zika vaccine candidate with a modified 5' untranslated region.
NPJ vaccinesAstrocytes derived from neural progenitor cells are susceptible to Zika virus infection.
PloS oneExpanded targeted screening for congenital cytomegalovirus infection.
Congenital anomaliesCongenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
CellsNovel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
American journal of medical genetics. Part AFetal hemivertebra: a rare form of 18q deletion prenatal presentation.
BMJ case reportsPredicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features.
Fetal diagnosis and therapyEnhanced mosquito vectorial capacity underlies the Cape Verde Zika epidemic.
PLoS biologyA recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Clinical geneticsDemographics and histopathological characteristics of enucleated microphthalmic globes.
Scientific reportsPeculiarities of Zika Immunity and Vaccine Development: Lessons from Dengue and the Contribution from Controlled Human Infection Model.
Pathogens (Basel, Switzerland)A very rare cause of arthrogryposis multiplex congenita: a novel mutation in TOR1A.
Journal of pediatric endocrinology & metabolism : JPEMSpecialized care services for children with congenital zika virus syndrome in Rio de Janeiro, Brazil: a social network analysis.
Ciencia & saude coletivaCongenital Zika Syndrome: Genetic Avenues for Diagnosis and Therapy, Possible Management and Long-Term Outcomes.
Journal of clinical medicineAutosomal Recessive Primary Microcephaly: Not Just a Small Brain.
Frontiers in cell and developmental biologyProteomic profiles of Zika virus-infected placentas bearing fetuses with microcephaly.
Proteomics. Clinical applicationsProteomics of ZIKV infected amniotic fluids of microcephalic fetuses reveals extracellular matrix and immune system dysregulation.
Proteomics. Clinical applicationsFlavonoids as Molecules With Anti-Zika virus Activity.
Frontiers in microbiologyCauses of Microcephaly in the Zika Era in Argentina: A Retrospective Study.
Global pediatric healthFirst Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly.
Molecular syndromologyCardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.
Cardiology in the youngInhibition of Tryptophan Catabolism Is Associated With Neuroprotection During Zika Virus Infection.
Frontiers in immunologyMicrocephaly, an etiopathogenic vision.
Pediatrics and neonatologyEvidence of Zika virus circulation in asymptomatic pregnant women in Northeast, Brazil.
PLoS neglected tropical diseasesAfrican-Lineage Zika Virus Replication Dynamics and Maternal-Fetal Interface Infection in Pregnant Rhesus Macaques.
Journal of virologyA Label and Probe-Free Zika Virus Immunosensor Prussian Blue@carbon Nanotube-Based for Amperometric Detection of the NS2B Protein.
BiosensorsA Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3' - Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay.
Journal of pediatric geneticsPlasma lipidome profiling of newborns with antenatal exposure to Zika virus.
PLoS neglected tropical diseasesZika-exposed microcephalic neonates exhibit higher degree of inflammatory imbalance in cerebrospinal fluid.
Scientific reportsThree-Year Clinical Follow-Up of Children Intrauterine Exposed to Zika Virus.
VirusesNeurological involvement in monogenic podocytopathies.
Pediatric nephrology (Berlin, Germany)Prevalence of congenital microcephaly and its risk factors in an area at risk of Zika outbreaks.
BMC pregnancy and childbirthFirst probable case of congenital Zika syndrome in Lao People's Democratic Republic.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesZika-related adverse outcomes in a cohort of pregnant women with rash in Pernambuco, Brazil.
PLoS neglected tropical diseasesReassessment of the risk of birth defects due to Zika virus in Guadeloupe, 2016.
PLoS neglected tropical diseasesRecent progresses and remaining challenges for the detection of Zika virus.
Medicinal research reviewsConjugation of Hemoglobin and Mannan Markedly Improves the Immunogenicity of Domain III of the Zika Virus E Protein: Structural and Immunological Study.
Bioconjugate chemistryPopulation-based surveillance of severe microcephaly and congenital Zika syndrome in Canada.
Archives of disease in childhoodEpilepsy surveillance in normocephalic children with and without prenatal Zika virus exposure.
PLoS neglected tropical diseasesAbnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy.
Journal of clinical medicineMicrocephaly in Australian children, 2016-2018: national surveillance study.
Archives of disease in childhoodChildren with special health care needs attending emergency department in Italy: analysis of 3479 cases.
Italian journal of pediatricsPrenatal ultrasound-assisted identification of multiple malformations caused by a deletion in the long-arm end of chromosome 7 and review of the literature.
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 ObstetriciansPunica granatum Leaf Ethanolic Extract and Ellagic Acid as Inhibitors of Zika Virus Infection.
Planta medicaAssociation Between Congenital Cytomegalovirus and the Prevalence at Birth of Microcephaly in the United States.
JAMA pediatricsA novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.
Clinical dysmorphologyTreatment of Acute Toxoplasmosis in Pregnancy: Influence in the Mother-to-Child Transmission.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCZika virus infection in pregnancy and adverse fetal outcomes in São Paulo State, Brazil: a prospective cohort study.
Scientific reportsCase Report: Multiorgan Involvement with Congenital Zika Syndrome.
The American journal of tropical medicine and hygieneAn update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Molecular genetics & genomic medicine24-hour Holter findings in infants with in-utero exposure to the Zika virus: a series of cases.
Revista do Instituto de Medicina Tropical de Sao PauloRole of microglia in the dissemination of Zika virus from mother to fetal brain.
PLoS neglected tropical diseasesClinical characteristics of children with congenital Zika syndrome: a case series.
Arquivos de neuro-psiquiatriaGestational outcomes in women infected by Zika virus during pregnancy in Mato Grosso do Sul, Brazil: A cross-sectional study.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesForced Zika Virus Infection of Culex pipiens Leads to Limited Virus Accumulation in Mosquito Saliva.
VirusesClinical profile of symptomatic congenital cytomegalovirus infection: cases from a tertiary hospital in north India.
Tropical doctor'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.
Journal of medical geneticsOptimization of Small-Scale Production of Zika Virus Envelope Glycoprotein by Transient Expression in HEK293 Cells for ELISA.
Methods in molecular biology (Clifton, N.J.)A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.
Hormone research in paediatricsA combination of two human monoclonal antibodies limits fetal damage by Zika virus in macaques.
Proceedings of the National Academy of Sciences of the United States of AmericaNeurological outcomes of congenital Zika syndrome in toddlers and preschoolers: a case series.
The Lancet. Child & adolescent healthMaternal Zika Virus (ZIKV) Infection following Vaginal Inoculation with ZIKV-Infected Semen in Timed-Pregnant Olive Baboons.
Journal of virologyClinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceAntenatal imaging and clinical outcome in congenital CMV infection: A field-wide systematic review and meta-analysis.
The Journal of infectionBrain abnormalities on neuroimaging in Children with Congenital Zika Syndrome in Salvador, Brazil, and its possible implications on neuropsychological development.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceAbsence of Evidence of Zika Virus Infection in Cord Blood and Urine from Newborns with Congenital Abnormalities, Indonesia.
The American journal of tropical medicine and hygieneHippo Signaling Pathway Has a Critical Role in Zika Virus Replication and in the Pathogenesis of Neuroinflammation.
The American journal of pathologyHow do mothers feel? Life with children with congenital Zika syndrome.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsNeonatal surveillance for congenital Zika infection during the 2016 microcephaly outbreak in Salvador, Brazil: Zika virus detection in asymptomatic newborns.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsSequencing of ZIKV genomes directly from Ae. aegypti and Cx. quinquefasciatus mosquitoes collected during the 2015-16 epidemics in Recife.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseasesStudy protocol for the multicentre cohorts of Zika virus infection in pregnant women, infants, and acute clinical cases in Latin America and the Caribbean: the ZIKAlliance consortium.
BMC infectious diseasesOverlapping Spectrum of Retinochoroidal Scarring in Congenital Zika Virus and Toxoplasmosis Infections.
Ophthalmic surgery, lasers & imaging retinaImpression Cytology Is a Non-invasive and Effective Method for Ocular Cell Retrieval of Zika Infected Babies: Perspectives in OMIC Studies.
Frontiers in molecular neuroscienceZika Virus Infection in the Developing Mouse Produces Dramatically Different Neuropathology Dependent on Viral Strain.
The Journal of neuroscience : the official journal of the Society for NeuroscienceZika virus infects human blood mononuclear cells.
BMC infectious diseasesZika virus: an emerging challenge to public health worldwide.
Canadian journal of microbiologyAsian and African lineage Zika viruses show differential replication and innate immune responses in human dendritic cells and macrophages.
Scientific reportsValue of routine ultrasound examination at 35-37 weeks' gestation in diagnosis of fetal abnormalities.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyCell Death And Zika Virus: An Integrated Network Of The Mechanisms Of Cell Injury.
Infection and drug resistanceZika Virus Pathogenesis: From Early Case Reports to Epidemics.
VirusesThe Transcriptional and Protein Profile From Human Infected Neuroprogenitor Cells Is Strongly Correlated to Zika Virus Microcephaly Cytokines Phenotype Evidencing a Persistent Inflammation in the CNS.
Frontiers in immunologyCohort profile: the Jundiaí Zika cohort (JZC), a pregnancy and birth cohort in São Paulo state, Brazil.
BMJ openFirst report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.
The application of clinical geneticsZIKV Envelope Domain-Specific Antibodies: Production, Purification and Characterization.
VirusesPrevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil.
Jornal de pediatriaDescriptive study of suspected congenital Zika syndrome cases during the 2015-2016 epidemic in Brazil.
Revista da Sociedade Brasileira de Medicina TropicalCorrelation between cephalic circumference at birth and ocular alterations in patients with microcephaly potentially associated with Zika Virus infection.
Revista da Associacao Medica Brasileira (1992)Zika as a cause of spontaneous abortion in endemic areas.
Boletin medico del Hospital Infantil de MexicoAuditory findings associated with Zika virus infection: an integrative review.
Brazilian journal of otorhinolaryngologyWhole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.
Molecular genetics & genomic medicineFirst 12 Months of Life for Infants in New York City, New York, With Possible Congenital Zika Virus Exposure.
Journal of the Pediatric Infectious Diseases SocietyDoratoxylon apetalum, an Indigenous Medicinal Plant from Mascarene Islands, Is a Potent Inhibitor of Zika and Dengue Virus Infection in Human Cells.
International journal of molecular sciencesChikungunya Virus and Zika Virus, Two Different Viruses Examined with a Common Aim: Role of Pattern Recognition Receptors on the Inflammatory Response.
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine ResearchAssessing the utility of antivirals for preventing maternal-fetal transmission of zika virus in pregnant mice.
Antiviral researchComparative Analysis of African and Asian Lineage-Derived Zika Virus Strains Reveals Differences in Activation of and Sensitivity to Antiviral Innate Immunity.
Journal of virologyFour human diseases with significant public health impact caused by mosquito-borne flaviviruses: West Nile, Zika, dengue and yellow fever.
Seminars in diagnostic pathologyChildren Born to Mothers with Rash During Zika Virus Epidemic in Brazil: First 18 Months of Life.
Journal of tropical pediatricsTime-scaled phylogeography of complete Zika virus genomes using discrete and continuous space diffusion models.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseasesDetecting Vertical Zika Transmission: Emerging Diagnostic Approaches for an Emerged Flavivirus.
ACS infectious diseasesClinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika.
Brain & developmentA Japanese patient with RAD51-associated Fanconi anemia.
American journal of medical genetics. Part AScreening for Zika virus infection in 1057 potentially exposed pregnant women, Catalonia (northeastern Spain).
Travel medicine and infectious diseaseTemporal trends in diagnoses of congenital microcephaly, Texas Hospital Discharge Diagnoses, 2000-2015.
Birth defects researchCongenital Zika Syndrome: Prevalence of low birth weight and associated factors. Bahia, 2015-2017.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesThe Roles of prM-E Proteins in Historical and Epidemic Zika Virus-mediated Infection and Neurocytotoxicity.
VirusesZika virus infection at mid-gestation results in fetal cerebral cortical injury and fetal death in the olive baboon.
PLoS pathogensImpact of presenting patient characteristics on surgical complications and morbidity in early onset scoliosis.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaRisk factors for congenital microcephaly in the pre-Zika era.
Birth defects researchAn Evolutionary Insight into Zika Virus Strains Isolated in the Latin American Region.
VirusesDeletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes.
European journal of medical geneticsSeroprevalence of Zika virus among asymptomatic pregnant mothers and their newborns in the Najran region of southwest Saudi Arabia.
Annals of Saudi medicineZika Virus Epidemic in Brazil. II. Post-Mortem Analyses of Neonates with Microcephaly, Stillbirths, and Miscarriage.
Journal of clinical medicineCongenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016.
Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletinCase Reports: Prolonged Detection of Zika Virus RNA in Vaginal and Endocervical Samples from a Brazilian Woman, 2018.
The American journal of tropical medicine and hygieneLoss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Human molecular geneticsCongenital Zika Virus Infection with Normal Neurodevelopmental Outcome, Brazil.
Emerging infectious diseasesThe microcephaly epidemic and Zika virus: building knowledge in epidemiology.
Cadernos de saude publicaStrain-Dependent Consequences of Zika Virus Infection and Differential Impact on Neural Development.
VirusesMutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
American journal of medical genetics. Part AFetal Brain Infection Is Not a Unique Characteristic of Brazilian Zika Viruses.
VirusesZika Virus: A Review of Literature.
CureusZika Virus Infection during Pregnancy and Sensorineural Hearing Loss among Children at 3 and 24 Months Post-Partum.
Journal of tropical pediatricsMulti affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation.
Brain & developmentTravel-Associated Zika Cases and Threat of Local Transmission during Global Outbreak, California, USA.
Emerging infectious diseasesRecurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
European journal of medical geneticsPersistent detection of Zika virus RNA from an infant with severe microcephaly - a case report.
BMC infectious diseasesVital Signs: Zika-Associated Birth Defects and Neurodevelopmental Abnormalities Possibly Associated with Congenital Zika Virus Infection - U.S. Territories and Freely Associated States, 2018.
MMWR. Morbidity and mortality weekly reportDevelopment of a novel peptide aptamer-based immunoassay to detect Zika virus in serum and urine.
TheranosticsCNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
European journal of medical geneticsExtract from Aphloia theiformis, an edible indigenous plant from Reunion Island, impairs Zika virus attachment to the host cell surface.
Scientific reportsZika in travellers 1947-2017: a systematic review.
Journal of travel medicineMinimum InDel pattern analysis of the Zika virus.
BMC genomicsCase of Microcephaly after Congenital Infection with Asian Lineage Zika Virus, Thailand.
Emerging infectious diseasesClinical and epidemiological aspects of microcephaly in the state of Piauí, northeastern Brazil, 2015-2016.
Jornal de pediatriaIntraamniotic Zika virus inoculation of pregnant rhesus macaques produces fetal neurologic disease.
Nature communicationsZika Virus IgG in Infants with Microcephaly, Guinea-Bissau, 2016.
Emerging infectious diseasesNeurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.
Frontiers in geneticsEstimating the numbers of pregnant women infected with Zika virus and infants with congenital microcephaly in Colombia, 2015-2017.
The Journal of infectionMicrocephaly caused by congenital Zika virus infection and viral detection in maternal urine during pregnancy.
Revista da Associacao Medica Brasileira (1992)Pregnancy Outcomes after ZIKV Infection in French Territories in the Americas.
The New England journal of medicinePublic Health Approach to Addressing the Needs of Children Affected by Congenital Zika Syndrome.
PediatricsZika and Public Health: Understanding the Epidemiology and Information Environment.
PediatricsIntrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.
Clinical geneticsHigher Cytopathic Effects of a Zika Virus Brazilian Isolate from Bahia Compared to a Canadian-Imported Thai Strain.
VirusesCritical neutralizing fragment of Zika virus EDIII elicits cross-neutralization and protection against divergent Zika viruses.
Emerging microbes & infectionsComparison of Four Serological Methods and Two Reverse Transcription-PCR Assays for Diagnosis and Surveillance of Zika Virus Infection.
Journal of clinical microbiology[The Recent Epidemic Spread of Zika Virus Disease].
UirusuHealth and Development at Age 19-24 Months of 19 Children Who Were Born with Microcephaly and Laboratory Evidence of Congenital Zika Virus Infection During the 2015 Zika Virus Outbreak - Brazil, 2017.
MMWR. Morbidity and mortality weekly reportAdverse birth outcomes associated with Zika virus exposure during pregnancy in São José do Rio Preto, Brazil.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious DiseasesZika virus infection in children: epidemiology and clinical manifestations.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAfter the epidemic: Zika virus projections for Latin America and the Caribbean.
PLoS neglected tropical diseasesReplication of early and recent Zika virus isolates throughout mouse brain development.
Proceedings of the National Academy of Sciences of the United States of AmericaConsequences of congenital Zika virus infection.
Current opinion in virologyFollow-up brain imaging of 37 children with congenital Zika syndrome: case series study.
BMJ (Clinical research ed.)Zika virus and reproduction: facts, questions and current management.
Human reproduction updateZika virus congenital syndrome: experimental models and clinical aspects.
The journal of venomous animals and toxins including tropical diseasesZika Virus Encoding Nonglycosylated Envelope Protein Is Attenuated and Defective in Neuroinvasion.
Journal of virologyA new threat to human reproduction system posed by Zika virus (ZIKV): From clinical investigations to experimental studies.
Virus researchTaking the defensive: Immune control of Zika virus infection.
Virus researchMicrocephaly Caused by Lymphocytic Choriomeningitis Virus.
Emerging infectious diseasesNotes from the Field: Zika Virus-Associated Neonatal Birth Defects Surveillance - Texas, January 2016-July 2017.
MMWR. Morbidity and mortality weekly reportCulex quinquefasciatus from areas with the highest incidence of microcephaly associated with Zika virus infections in the Northeast Region of Brazil are refractory to the virus.
Memorias do Instituto Oswaldo CruzZika virus transmission to mouse ear by mosquito bite: a laboratory model that replicates the natural transmission process.
Parasites & vectorsIn Utero Evidence of Impaired Somatic Growth in Hypoplastic Left Heart Syndrome.
Pediatric cardiologyDiagnosis and treatment of herpes simplex 1 virus infection in pregnancy.
Obstetric medicine[Zika virus infection: A review].
Annales de dermatologie et de venereologieInfection-related microcephaly after the 2015 and 2016 Zika virus outbreaks in Brazil: a surveillance-based analysis.
Lancet (London, England)Evaluation of Placental and Fetal Tissue Specimens for Zika Virus Infection - 50 States and District of Columbia, January-December, 2016.
MMWR. Morbidity and mortality weekly reportZika virus: a cause of concern in transplantation?
Current opinion in infectious diseasesVariant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.
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Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
4 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 5 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (2026). Microencefalia. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/microencefalia
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