کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2178122 1549639 2010 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Ellis–van Creveld syndrome with facial dysmorphic features in an Egyptian child
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیولوژی سلول
پیش نمایش صفحه اول مقاله
Ellis–van Creveld syndrome with facial dysmorphic features in an Egyptian child
چکیده انگلیسی

Ellis–van Creveld syndrome (EVC) is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. We report a patient with the typical features of the syndrome but with facial dysmorphic features (upward slant of eyes, megalocornea and high forehead), for the first time in the literature.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Egyptian Journal of Medical Human Genetics - Volume 11, Issue 2, November 2010, Pages 181–185
نویسندگان
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