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   Articles with "van creveld" as a keyword



A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.

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recommendations! 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

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recommendations! 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

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recommendations! 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

Anesthetic management challenges in a pediatric patient with Ellis Van Creveld syndrome and complex cardiac anomalies: A case report

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recommendations! Published in 2025 at "Saudi Journal of Anaesthesia"

DOI: 10.4103/sja.sja_485_24

Abstract: The case report discusses the anesthetic management and postoperative course of a 4-month-old girl with Ellis Van Creveld syndrome. Key challenges included an abnormal chest wall, tracheal abnormalities, and complex cardiac issues, requiring tailored anesthetic… read more here.

Keywords: creveld syndrome; case report; anesthetic management; complex cardiac ... See more keywords