Discordance for Ellis-van Creveld syndrome in twins.
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.
Thapa
R
R
Department of Paediatrics, The Institute of Child Health, 11 Dr Biresh Guha Street, Kolkata 700017, India. rajoothapa@yahoo.co.in
Mukhopadhyay
M
M
Bhattacharya
A
A
D000328:Adult; D004200:Diseases in Twins; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy