کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9179168 | 1578941 | 2005 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Noonan syndrome and related disorders
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
کاردیولوژی و پزشکی قلب و عروق
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چکیده انگلیسی
Noonan syndrome is a common multiple malformation syndrome seen in children with congenital heart disease. Recently, a mutation in the PTPN11 gene was found to be present in about 50% of individuals with Noonan syndrome. Over 80% of these patients have some form of congenital heart disease with pulmonary stenosis often associated with a dysplastic valve being, by far, the most common lesion. Hypertrophic cardiomyopathy occurs in 20-30%. Characteristic facies, chest deformity, short stature, undescended testes in the male and learning disabilities comprise the Noonan phenotype but there is wide phenotypic variation and a changing phenotype with age. This phenotype is noted in several other syndromes which share similar cardiac defects. These include LEOPARD, neurofibromatosis, Noonan syndrome, cardio-facio-cutaneous syndrome and Costello syndrome. A definitive diagnosis is particularly difficult in infancy.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Progress in Pediatric Cardiology - Volume 20, Issue 2, July 2005, Pages 177-185
Journal: Progress in Pediatric Cardiology - Volume 20, Issue 2, July 2005, Pages 177-185
نویسندگان
Jacqueline A. Noonan,