نتایج جستجو برای: van creveld syndrome
تعداد نتایج: 686722 فیلتر نتایج به سال:
ELLIS-van CREVELD SYNDROME IN A NIGERIAN WOMAN: A CASE STUDY 1 2 1 1 AHMADU MS, TALLEMA, AHIDJO A, TAHIR AA Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare, autosomal recessive th disorder that was first described by Ellis and van Creveld in the mid-20 century.The syndrome is characterized by a tetrad of chondrodystrophy, post axial polydactyly, and hidrotic ectodermal...
The status of mood-congruent free recall bias in anxious individuals was evaluated following incidental encoding of target words. Individuals with high and low levels of trait anxiety completed a modified Stroop task, which revealed an attentional bias for threat-related stimuli in anxious individuals. This group was significantly slower in naming the colour in which threat-related words were d...
Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having ...
Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes E...
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