Pregnancy in Ellis Van Creveld syndrome women: a rare case report

Sunanda N.; Talath Aisha

doi:10.18203/2320-1770.ijrcog20222323

Authors

Sunanda N. Department of Obstetrics and Gynaecology, Mysuru Medical College and Research Centre, Mysore, Karnataka, India
Talath Aisha Department of Obstetrics and Gynaecology, Mysuru Medical College and Research Centre, Mysore, Karnataka, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20222323

Keywords:

Heart defects, Polydactyly, Dwarfism, Chondroectodermal dysplasia, Autosomal recessive

Abstract

Ellis Van Creveld (EVC) syndrome also known as chondroectodermal dysplasia is a rare genetic disorder characterized by congenital heart defect, short ribs, polydactyly, dwarfism, deformed teeth and genu valgum. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence in India is not known, but the syndrome seems more common among Amish population of Pennsylvania in the United States of America (USA). Heart defects occur in about 60% of cases. Cognitive and motor development is normal. It shows autosomal recessive trait with variable expression. The patients with this syndrome rarely survive into adulthood but here we report a case of 25 years old pregnant lady with Ellis Van Creveld syndrome.

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Author Biography

Sunanda N., Department of Obstetrics and Gynaecology, Mysuru Medical College and Research Centre, Mysore, Karnataka, India

Associate professor. Dept. Of obstetrics and gynecology

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