title: Late survival in Ellis-van Creveld syndrome - a case report.
abstract: Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by chondrodystrophy, 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.
authors.affiliation: Department of Cardiology, SCB Medical College, Cuttack, Odisha, India. drtkmishra@yahoo.com
authors.forename: Trinath
authors.initials: T
authors.lastname: Mishra
authors.forename: Satya N
authors.initials: SN
authors.lastname: Routray
authors.forename: Biswajit
authors.initials: B
authors.lastname: Das
mesh_terms: D001827:Body Height; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D056304:Genu Valgum; D006325:Heart Atria / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D008875:Middle Aged; D017741:Survivors; D014463:Ultrasonography