Late presentation of Ellis van Creveld Syndrome with Common atrium anomaly: A case report in a Nepalese Adult

Abstract

Ellis Van Creveld syndrome (EVC) is a rare genetic disorder having autosomal recessive inheritance characterized by chondrodystrophy, polydactyly, ectodermal dysplasia, and various cardiac anomalies. Acromelic shortening of upper and lower limbs, genu valgum, deformed teeth, short ribs and narrow thorax and other systemic anomalies complete the picture of this syndrome. The patients with the syndrome rarely survive into adulthood. Here, we report a 30 year old male with EVC presenting for the first time in middle age with Common atrium anomaly.

Ellis-van Creveld Syndrome

“…These changes included the presence of extra fingers (polydactyly), dwarfism (Figure 1), nail hypoplasia (Figure 2), and facial abnormalities such as asymmetry of the right or the left side of the face. 1,[5][6] Radiological prenatal ultrasound during the gestational period was the main diagnostic tool. Nevertheless, panoramic radiography could also be used at a certain age.…”