A CASE REPORT OF LATE SURVIVAL IN ELLIS: VAN CREVELD SYNDROME

CORRESPONDING AUTHOR:
Dr. Hemant Narayan Ray,
Department of Cariology,
Rajendra Institute of Medical Sciences,
Bariatu Road, Ranchi-834009,
Jharkhan, India.
Email: hemantnarayanray@yahoo.com

ABSTRACT: Ellis–van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by chondro-dystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Acromelic shortening of upper and lower limbs, genu valgum, multiple frenula, deformed teeth, short ribs and narrow thorax and congenital heart diseases complete the picture. The patients with the syndrome rarely survive into adulthood. Here, we report a lady with EVC presenting for the first time in middle age.

KEYWORDS: Ellis–van Creveld syndrome, Ciliopathy, Short rib narrow thorax syndromes