Author/Authors :
ERTUĞRUL, Sabahattin Selçuk Üniversitesi - Meram Tıp Fakültesi - Neonatoloji Bilim Dalı, TÜRKİYE , ANNAGÜR, Ali Selçuk Üniversitesi - Meram Tıp Fakültesi - Neonatoloji Bilim Dalı, TÜRKİYE , ALTUNHAN, Hüseyin Selçuk Üniversitesi - Meram Tıp Fakültesi - Neonatoloji Bilim Dalı, TÜRKİYE , ÖRS, Rahmi Selçuk Üniversitesi - Meram Tıp Fakültesi - Neonatoloji Bilim Dalı, TÜRKİYE
Title Of Article :
Shortening of The Distal Extremities and a Single Atrium Appeared a Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome) Case
Abstract :
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 distallimb shortening.
NaturalLanguageKeyword :
Ellis , van Creveld syndrome , chondroectodermal dysplasia , polydactyly , single atrium
JournalTitle :
Fırat University Medical Journal Of Health Sciences
