TITLE:
Autopsy Findings in a Case of Ellis Van Creveld Syndrome with Review of Literature
AUTHORS:
Asaranti Kar, Dilleswari Pradhan, Jagannath Pahi, Mrunmayee Patra, Pranati Mohanty, Gayatri Rath, Susmita Behera
KEYWORDS:
Ellis Van Creveld Syndrome, Perinatal Autopsy, Polydactyly
JOURNAL NAME:
International Journal of Clinical Medicine,
Vol.5 No.14,
July
23,
2014
ABSTRACT: Ellis Van Creveld
(EVC) syndrome is one of the congenital anomalies not compatible with life. It
is also known as chondroectodermal dysplasia. The most common manifestations of
this syndrome are short ribs, postaxial polydactyly, growth retardation, and
ectodermal and cardiac defects. It has an incidence of one in every 60,000 live
births and equal sex predisposition. In our case, perinatal autopsy was
performed in a stillborn baby of 32 weeks of gestation having syndactyly, polydactyly
and short forearms to know the cause of death and the diagnosis emerged as EVC
syndrome. It is important to diagnose EVC syndrome as it is transmitted as an
autosomal recessive disorder, so genetic counseling is required to make parents
aware of the risk of recurrence.