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Cornelia De Lange Syndrome: A Case Report
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نویسنده
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Aarabi Moghaddam Mohammad Yousef ,Mortezaian Hojatollah ,Miri Reza
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منبع
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journal of tehran university heart center - 2009 - دوره : 4 - شماره : 4 - صفحه:244 -247
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چکیده
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Cornelia de lange syndrome (cdls) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. the diagnosis of this syndrome is clinical. the patient of the present case report was the second case of cdls from iran; only a few cases of cdls have thus far been reported from countries outside europe and north america. reporting cdls cases of different ethnic backgrounds can add nuances to the phenotypic description of the syndrome and be helpful in diagnosis. furthermore, an increased awareness of this syndrome may result in an early diagnosis and a decrease in morbidity.
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کلیدواژه
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De Lange syndrome • Dyspnea • Heart murmurs • Congenital abnormalities
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آدرس
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iran university of medical sciences, Shaheed Rajaei Cardiovascular Medical and Research Center, ایران, iran university of medical sciences, Shaheed Rajaei Cardiovascular Medical and Research Center, ایران, iran university of medical sciences, Shaheed Rajaei Cardiovascular Medical and Research Center, ایران
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پست الکترونیکی
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godronlym@yahoo.com
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Authors
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