马凡氏综合征1例报告并文献复习

Fazil Ka, R. Castelino, S. Babu, P. Balan, Supriya Bhat
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摘要

马凡氏综合征是一种累及结缔组织的全身性疾病。该综合征通过常染色体显性遗传。患者携带编码纤维蛋白1的基因突变,纤维蛋白1是一种结缔组织蛋白。这种综合症的发病率是万分之一,男女患病率相等。该综合征是累及骨骼、眼睛、心脏、肺和大血管的一系列全身性表现。受此综合征影响的个体通常又高又瘦,并伴有各种全身异常。本文报告一例马凡氏综合征,并回顾
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Marfan syndrome: A case report with review of literature -
Marfan syndrome is a systemic condition involving the connective tissue. The syndrome is inherited by autosomal dominant trait. Affected persons carry a mutation in the gene that encodes fibrillin-1 which is a connective tissue protein. The incidence of this syndrome is one in ten thousand live births with an equal predilection for both the genders. The syndrome is a collection of generalized manifestations involving the skeleton, eyes, heart, lungs, and the large blood vessels. The individual affected by this syndrome is usually tall and lean with various systemic abnormalities. A case of Marfan syndrome is reported here with review of
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