A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2183
Abstract: BACKGROUND Ellis-van Creveld (EvC) syndrome, caused by variants in EVC, is a rare genetic skeletal dysplasia. Its clinical phenotype is highly diverse. EvC syndrome is rarely reported in prenatal stages because its presentation overlaps with… read more here.
Keywords: van creveld; ellis van; syndrome; fetus ... See more keywords
First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Progress in Pediatric Cardiology"
DOI: 10.1016/j.ppedcard.2022.101508
Abstract: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and… read more here.
Keywords: patient; covid infection; van creveld; ellis van ... See more keywords
Exotropia in a case of Ellis Van Creveld syndrome: A rare case report
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_2551_21
Abstract: A 4‐year‐old boy presented with a deviation of the right eye along with involuntary movements of both eyes. An ocular examination revealed right exotropia of 90 prism diopters (D) deviation, bilateral nystagmus with both eyes… read more here.
Keywords: case ellis; exotropia case; ellis van; van creveld ... See more keywords