کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4153727 | 1607047 | 2015 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome](/preview/png/4153727.png)
چکیده انگلیسی
Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian child who was admitted for cyanosis and acute heart failure. On clinical examination, he presented with typical features of EvC, cyanosis and dyspnea. EvC was confirmed by genetic tests, and echocardiography showed a partial atrioventricular canal defect with supra-systemic pulmonary artery pressure. The patient was treated; however, the evolution was fatal.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatrics and Adolescent Medicine - Volume 2, Issues 3–4, September–December 2015, Pages 161–165
Journal: International Journal of Pediatrics and Adolescent Medicine - Volume 2, Issues 3–4, September–December 2015, Pages 161–165
نویسندگان
Houda Ajmi, Victor L. Ruiz Perez, Saida Hassayoun, Sameh Mabrouk, Sana Mahdoui, Essia Boughzela, Noura Zouari, Saoussan Abroug,