Ellis–van Creveld Syndrome: A Report of Two Cases

Abstract

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 EVC syndrome in two sisters of Indian origin, ages 8 and 6 years, the products of nonrelated, unaffected parents. The patients had chondrodysplasia of tubular bones resulting in disproportionate dwarfism, polydactyly, severely dystrophic nails, partially absent teeth, and short and bound-down upper lips with multiple frenulae. Other features noted in the girls were syndactyly and mild mitral regurgitation. All four of the classic features of EVC syndrome were present in patient 1 and three in patient 2. Additional findings were ichthyosis and plantar keratoderma in the former and absent clavicles in the latter, which have not been reported previously. The importance of prenatal diagnosis of EVC is stressed and a multidisciplinary approach for the management of these patients is highlighted.

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis–van Creveld syndrome in a Chinese family

“…Tooth abnormalities, multiple oral frenulae, and hypoplastic nails are consistent findings in EvC, and congenital heart defects are present in 40-50% of patients, typically an atrial or atrioventricular septal defect. Mild mental retardation is occasionally found [da Silva et al, 1980;Arya et al, 2001;Ca gdaş et al, 2008;Temtamy et al, 2008]. Some elements of the phenotype of EvC are similar to Weyers acrofacial dysostosis (OMIM 193530), which, like EvC, is associated with mutations in EVC or EVC2 (Table I).…”

Ellis-van Creveld syndrome: report of two cases

“…Very few cases have been reported from India. [4,5] We here present a report of two siblings with features consistent with EVC syndrome.…”

Autopsy Findings in a Case of Ellis Van Creveld Syndrome with Review of Literature

“…Mutation of EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16 have been identified as causative focus [4]. The largest pedigree of EVC syndrome has been described in the old order Amish community in Lancaster country, Pennsylvania [5]. EVC syndrome belongs to the short rib polydactyly [SRP] group.…”