Studies on the pathogenesis of Costello syndrome
نویسندگان
چکیده
منابع مشابه
Studies on the pathogenesis of Costello syndrome.
Costello syndrome is characterised by high birth weight, early psychomotor and growth retardation, cardiomyopathy, relative macrocephaly, coarse face, and laxity of the small joints. Skin abnormalities include nasal and perianal papillomata, acanthosis nigricans, cutis laxa, and curly and sparse scalp hair. 2 Increased paternal age and sporadic occurrence have suggested autosomal dominant de no...
متن کاملCostello syndrome.
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to no...
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Costello syndrome is a rare genetic disorder characterised by growth and mental retardation, macrocephaly, short neck and macroglossia. Cardiac involvement can also occur in Costello syndrome and is presented in the form of hypertrophic cardiomyopathy, tachyarrythmias and valvular dysfunction. Nervous system involvement including ventriculomegaly, hydrocephaly and Chiari type 1 malformation are...
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قاعده مقتضی و مانع در متون فقهی کم و بیش مستند احکام قرار گرفته و مورد مناقشه فقهاء و اصولیین می باشد و مشهور معتقند مقتضی و مانع، قاعده نیست بلکه یکی از مسائل ذیل استصحاب است لذا نگارنده بر آن شد تا پیرامون این قاعده پژوهش جامعی انجام دهد. به عقیده ما مقتضی دارای حیثیت مستقلی است و هر گاه می گوییم مقتضی احراز شد یعنی با ماهیت مستقل خودش محرز گشته و قطعا اقتضاء خود را خواهد داشت مانند نکاح که ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.4.e37