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BMJ Case Rep
; 14(3)2021 Mar 24.
Article
in English
| MEDLINE
| ID: mdl-33762274
ABSTRACT
Ellis-van Creveld (EVC) syndrome is a relatively rare chondroectodermal dysplasia considered mainly as a generalised disorder of the maturation of endochondral ossification. Congenital heart disease occurs in approximately half of the patients with EVC syndrome, 60% of which is a common atrium. Common atrium is a rare variety of interatrial communication characterised by absence or virtual absence of the atrial septum. Patients with this syndrome rarely survive to an old age. We report a case of EVC who presented for the first time at 60 years of age, as survival to an advanced age is exceptional in case of EVC.