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Shortening of the Distal Extremities and a Single Atrium Appeared a Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome) Case
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نویسنده
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ERTUĞRUL Sabahattin ,ANNAGÜR Ali ,ALTUNHAN Hüseyin ,ÖRS Rahmi
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منبع
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fırat university medical journal of health sciences - 2010 - دوره : 24 - شماره : 3 - صفحه:205 -207
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چکیده
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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.
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کلیدواژه
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Ellis-van Creveld syndrome ,chondroectodermal dysplasia ,polydactyly ,single atrium
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آدرس
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Selçuk Üniversitesi, Meram Tıp Fakültesi, Neonatoloji Bilim Dalı, TÜRKİYE, Selçuk Üniversitesi, Meram Tıp Fakültesi, Neonatoloji Bilim Dalı, TÜRKİYE, Selçuk Üniversitesi, Meram Tıp Fakültesi, Neonatoloji Bilim Dalı, TÜRKİYE, Selçuk Üniversitesi, Meram Tıp Fakültesi, Neonatoloji Bilim Dalı, TÜRKİYE
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Authors
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