A RARE CASE OF PREGNANCY IN WOMAN WITH SINGLE ATRIUM

Abstract

Ellis-van Creveld syndrome is a rare genetic
disorder. About 300 cases have
been reported worldwide. Amongst the
affected population more than half do not
survive beyond infancy or childhood.
Thus we are presenting this case of a 28
year old short primigravida with 8 months
gestation with positive family history with
complaints of breathlessness and chest
pain and an echocardiography revealing
common atrium with severe pulmonary
hypertension. Associated clinical features
of short limbs, postaxial polydactyly
and narrow chest led to the diagnosis of
Ellis-van Creveld syndrome.