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...

We study the role of electronic structure (band gaps) and long-range van der Waals (vdW) interactions on the stability and mobility of point defects in silicon and heavier semiconductors. Density functional theory calculations with hybrid functionals that contain part of the Hartree-Fock exchange energy are essential to achieve a reasonable description of defect electronic levels, leading to ac...

We empirically analyze the welfare effects of cross-firm bundling in the pharmaceutical industry. Physicians often treat patients with "cocktail" regimens that combine two or more drugs. Firms cannot price discriminate because each drug is produced by a different firm and a physician creates the bundle in her office from the component drugs. We show that a less competitive equilibrium arises wi...

The Bonhöffer-van der Pol (BvdP) equation is considered as an important model for studying dynamics in a single neuron. In this paper, we investigate bifurcations of periodic solutions in model equations of four and five BvdP neurons coupled through the characteristics of synaptic transmissions with a time delay. The model can be considered as a dynamical system whose solution includes jumps de...

The Medical Journal of Australia, Sydney, NSW. Ruth M Armstrong, BMed, Deputy Editor; Helen M Randall, BSc, DipOT, Senior Assistant Editor; Martin B Van Der Weyden, MD, FRACP, FRCPA, Editor. Reprints will not be available from the authors. Correspondence: Dr Ruth M Armstrong, The Medical Journal of Australia, Locked Bag 3030, Strawberry Hills, NSW 2012. [email protected] The Medical Journal...

Sensitive dependence of the electronic structure on the number of layers in few-layer phosphorene raises a question about the true nature of the interlayer interaction in so-called "van der Waals (vdW) solids". We performed quantum Monte Carlo calculations and found that the interlayer interaction in bulk black phosphorus and related few-layer phosphorene is associated with a significant charge...

Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss-of-func...