نتایج جستجو برای: ellis van creveld syndrome

تعداد نتایج: 689663  

2015
Sergey Kiselev

The aim of this study was to assess whether age-related differences in reaction time can be explained satisfactorily in terms of a global age-related differences in processing speed alone. We investigated the age-related differences in simple, discrimination and choice reaction time in 4to 6-year-old children and young adults using approach proposed by Madden et al. and Ridderinkhoff & van der ...

Journal: :Kathmandu University medical journal 2008
M M Shenoy K Gopa B S Girisha J Pinto V Shetty

Two male siblings aged 12 and 15 years (Figure 1) presented with growth retardation, limb abnormalities and, defective teeth and nail since childhood. There was no history of similar defects in other family members. On examination their height was 114 cm and 130 cm (expected height; 169 cm and 150 cm) respectively. There were hypoplastic and dystrophic nails, and microdontia and hypodontia on d...

Journal: :Journal of advances in medical and biomedical research 2023

2013
Ozlem Marti Akgun Fidan Sabuncuoglu Ayberk Altug Ceyhan Altun

The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. ...

2015
Maria Valencia Lara Tabet Nadine Yazbeck Alia Araj Victor L Ruiz-Perez Khalil Charaffedine Farah Fares Rebecca Badra Chantal Farra

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 ...

Journal: :World journal of pediatrics : WJP 1958
A ALVAREZ-BORJA

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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