Ellis Van Creveld Syndrome - A perinatal autopsy case report

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.