Ellis Van Creveld Syndrome - A perinatal autopsy case report

Abstract

Ellis Van Creveld syndrome is a disease complex where all the three embryonic layers appear to be involved. This disorder is also called chondro ectodermal dysplasia or meso ectodermal dysplasia. It is a part of an emerging class of diseases called ciliopathies due to primary dysfunction of cilia. It is very rare; only about 150 cases have been described in the world literature and rarely been described in the Indian literature. In our case perinatal autopsy was performed of a still born baby of 32 wks gestation having syndactyly and polydactyly and short forearm, to know the cause of death, and the diagnosis was emerged as Ellis Van Creveld syndrome. In India most of the intrauterine death cases remain undiagnosed, but diagnosis of EVC syndrome is important because it is transmitted as autosomal recessive manner so genetic counseling is required to make the parents aware of the risk of recurrence. Keywords - Ellis Van Creveld syndrome, perinatal autopsy, polydactyly I. INTRODUCTION Ellis Van Creveld syndrome is a rare genetic disorder of skeletal dysplasia type. The cardinal features usually present as tetrad of : a) disproportionate small stature with increasing severity from the proximal to distal portions of the limbs. b) Polydactyly, affecting hands and occasionally the feet. c) Hydrotic ectodermal dysplasia mainly affecting the nails, hair and teeth. d) Congenital heart malformations occurring in about 50%- 60% of cases and comprising of single atrium, defects of the mitral and tricuspid valves, patent ductus, ventricular septal defect, atrial septal defect and hypoplastic left heart syndrome. The presence of congenital heart disease may support the diagnosis of the EVC syndrome and appears to be the main determinant of longevity. (1) It is transmitted as autosomal recessive trait and caused by mutation of EVC gene ( both EVC1 and EVC2 ) and the locus is 4p16. (2) The largest pedigree of EVC syndrome has been described in the old order