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Sudan J Paed. 2013; 13(1): 53-5


Marfan syndrome affecting a whole Sudanese family.

Laila M Elmahdi; Sulafa Km Ali.




Abstract

Marfan syndrome (MS, OMIM 154700) is an autosomal dominant disorder of fibrous connective tissue with striking pleiotropism and clinical variability. The cardinal features occur in skeletal, ocular, and cardiovascular systems. We describe a Sudanese family with the father and all his 4 children manifesting the syndrome. To our knowledge, there were no previously reported MS cases from Sudan.

Key words: Echocardiography; Fibrillin-1 gene; Marfan syndrome






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