سندرم cornelia de lange و معرفی یک مورد شیرخوار مبتلا
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abstract
سندرم کورنلیا دلانژه (cornelia de lange) یک سندرم نادر مادرزادی همراه با ناهنجاری های متعدد از جمله ناهنجاری های صورت، رویش غیرعادی مو (hirsutism)، اختلال رشد قدی و وزنی و دور سر، نقایص قلبی، نقایص گوارشی، کلیوی و ناهنجاری اندام ها می باشد. شیوع بیماری 1 به 30000 تا 1 به 50000 می باشد. تشخیص این سندرم اساسا بر مبنای علایم بالینی است و اصولا بیماری به دو شکل اتوزوم غالب و وابسته به کروموزوم x می باشد و جهش در ژن های nipbl و smc1l1 دیده می شود. هدف از این مقاله، معرفی یک مورد از سندرم فوق می باشد.
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OBJECTIVES Cornelia de Lange syndrome (CdLS) is a genetic syndrome with multisystem abnormalities. Infections are a significant cause of morbidity and mortality. The goals of our study were to identify the frequency and types of infections in CdLS and to determine if underlying immunodeficiency contributes to the clinical spectrum of this syndrome. METHODS We assessed infectious histories in ...
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Journal title:
مجله دانشگاه علوم پزشکی مازندرانجلد ۱۷، شماره ۶۰، صفحات ۱۱۶-۱۲۱
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