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马凡综合征(MS)是一种遗传性结缔组织病。法国医生Marfan于1896年首次描述。目前,该综合征的诊断依据除家族史外,还有骨骼、眼、心血管、皮肤、中枢神经和呼吸系统受累的表现。若无明确的家族史,确诊须有骨骼系统及至少两个其它系统受累的表现。长期以来,人们认为该综合征是常染色体显性遗传和明显的表现型变异,无家族史者可能由双亲生殖细胞自发突变而引起(占15%~35%)。这种散发病例比家族遗传的马凡综合征受侵袭更严重。
Marfan syndrome (MS) is a hereditary connective tissue disease. French doctor Marfan first described it in 1896. Currently, the syndrome is diagnosed on the basis of family history as well as skeletal, ocular, cardiovascular, dermal, central nervous and respiratory involvement. Without a clear family history, a confirmed skeletal system and at least two other systems involved in the performance. For a long time, it is considered that the syndrome is autosomal dominant and obvious phenotypic variation, no family history may be caused by spontaneous mutation of the parents germ cells (15% to 35%). This sporadic case of Marfan syndrome than the family inheritance affected more severely.