نتایج جستجو برای: microcephaly
تعداد نتایج: 3104 فیلتر نتایج به سال:
Many proteins associated with the phenotype microcephaly have been localized to the centrosome or linked to it functionally. All the seven autosomal recessive primary microcephaly (MCPH) proteins localize at the centrosome. Microcephalic osteodysplastic primordial dwarfism type II protein PCNT and Seckel syndrome (also characterized by severe microcephaly) protein ATR are also centrosomal prote...
In April, the CDC declared Zika the cause of microcephaly in Brazil [1], but questions remain, as outside of Brazil a similar number of cases have not been seen. In Colombia cases of Zika have been identified in August, 2015, and the outbreak grew rapidly from October. As of June 15 2016, the WHO reports 7 Zika associated microcephaly cases in Columbia in contrast to over 1,500 confirmed cases ...
BACKGROUND Starting in August 2015, there was an increase in the number of cases of neonatal microcephaly in Northeast Brazil. These findings were identified as being an epidemic of microcephaly related to Zika virus (ZIKV) infection. The present study aims to analyse the spatial distribution of microcephaly cases in Recife (2015-2016), which is in Northeast Brazil, and its association with the...
A large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped...
Human microcephaly comprises a heterogeneous group of conditions that are characterized by a failure of normal brain growth. Microcephaly can be caused by many injurious or degenerative conditions, or by developmental malformations in which the growth of the brain is impaired as a result of defects in pattern formation, cell proliferation, cell survival, cell differentiation, or cell growth. Th...
OBJECTIVES To describe the prevalence and characteristics of microcephaly in a geographically defined Australian population. DESIGN, SETTING AND PARTICIPANTS Descriptive epidemiological study of microcephaly cases ascertained by the Western Australian Register of Developmental Anomalies, 1980-2015, defining microcephaly as an occipito-frontal head circumference below the third percentile or m...
INTRODUCTION: Seckel syndrome is a rare case. It belongs to an autosomal recessive disorder. commonly leads osteodysplastic, microcephaly, and dwarfism, which are proportional prenatal onset. Microcephaly, bird-headed-like appearance, mental retardation common dysmorphic in the future. This case report present patient with this will be discussed comprehensively. CASE REPORT: A 9-month-old girl ...
A 7 year old boy with DeSanctis-Cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.
The recent Zika virus outbreak, which began in Brazilin 2015, has been linked to microcephaly in fetuses and newborns. The virus has spread rapidly through South, Central, and even North America; hence, it has been declared a public health emergency of international concern. Presently, a specific prenatal biomarker screen for microcephaly is not in place because the cranial defect usually appea...
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