Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi |
2010, Cilt 24, Sayı 3, Sayfa(lar) 205-204 |
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Shortening of The Distal Extremities and a Single Atrium Appeared a Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome) Case |
Sabahattin ERTUĞRUL, Ali ANNAGÜR, Hüseyin ALTUNHAN, Rahmi ÖRS |
Selçuk Üniversitesi, Meram Tıp Fakültesi, Neonatoloji Bilim Dalı, Konya, TÜRKİYE |
Keywords: Ellis-van Creveld syndrome, chondroectodermal dysplasia, polydactyly, single atrium |
Ellis-van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive
disorder. It was first described by Ellis and van Creveld in 1940. It is a chondral and ectodermal
dysplasia characterized by short ribs, postaxial polydactyly, growth retardation, and ectodermal
(dysplastic teeth and nails) and congenital heart defects. Approximately 60% of patients have a
cardiac defect, most commonly an atrial septal defect, often with a single atrium. In this article, we
presented a case of Ellis-van Creveld syndrome associated with single atrium as well as rare distal
limb shortening.
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