Discordance for Ellis-van Creveld syndrome in twins

Thapa R, Mukhopadhyay M, Bhattacharya A
Correspondence: Dr Rajoo Thapa, rajoothapa@yahoo.co.in

ABSTRACT
Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterised by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. It is extremely rare for EVC syndrome to occur in one of a pair of newborn twins. Review of the existing literature revealed that only one such case has been reported so far.

Keywords: chondrodystrophy, chondroecto-dermal dysplasia, Ellis-van Creveld syndrome, twins
Singapore Med J 2008; 49(12): e369-e371