Abstract
Ellis-van Creveld syndrome (EVCS) or meso/chondroectodermal dysplasia is a rare congenital, autosomal recessive disorder. It is caused by mutation of EVC gene (both EVC1 and EVC2) on locus 4p16. The incidence of EVCS in general population is low but a high prevalence has been reported among Amish community of USA. There are more than 300 cases of EVCS reported in the literature. The characteristic features are bilateral postaxial polydactyly, chondroectodermal dysplasia, congenital heart defects and hypoplastic nails and teeth. Here we describe a case of EVCS in a newborn male child with the tetrad of cardinal features along with additional systemic features. The diagnosis of EVCS is important because it is transmitted by autosomal recessive manner, so genetic counselling has to be offered to make the parents aware of the risk of recurrence.
KEYWORDS: Ellis-van Creveld syndrome, polydactyly, Chondroectodermal dysplasia
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Corresponding Author
Dr Ashok Garg
Address: House no. 35, Ward no. 2, Village Anu kalan, PO/Teh/ Distt. Hamirpur (HP)-177001
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DOI: https://dx.doi.org/10.18535/jmscr/v5i8.141
