唐氏综合征掩盖的马凡综合征？
Marfan syndrome masked by Down syndrome?
机构信息
Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands.
出版信息
Neth Heart J. 2009 Sep;17(9):345-8. doi: 10.1007/BF03086281.
Abstract
Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;17:345-8.).
摘要
唐氏综合征是最常见的染色体异常。同时患有马凡综合征的情况极为罕见。我们报告了一例 28 岁女性唐氏综合征患者，携带纤维连接蛋白 1 基因突变。该患者表现出明显较少的马凡综合征表现。虽然已知马凡综合征存在可变表达，但我们患者的马凡综合征表型表达可能因唐氏综合征的同时发生而被掩盖。（荷兰心脏杂志 2009 年；17:345-8.）。
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