Marfan syndrome masked by Down syndrome?

被引：4

作者：

Vis, J. C. ^{[1
]}

van Engelen, K. ^{[1
,3
]}

Timmermans, J. ^{[3
]}

Hamel, B. C. ^{[4
]}

Mulder, B. J. M. ^{[1
,2
]}

机构：

[1] Acad Med Ctr, Dept Cardiol, NL-1100 DD Amsterdam, Netherlands

[2] Univ Med Ctr Utrecht, Dept Cardiol, Utrecht, Netherlands

[3] Acad Med Ctr, Dept Clin Genet, NL-1100 DD Amsterdam, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

来源：

NETHERLANDS HEART JOURNAL | 2009年 / 17卷 / 09期

关键词：

Marfan syndrome; Down syndrome; trisomy; 21; coexistence; FBN1; MUTATIONS; CHILDREN;

D O I：

10.1007/BF03086281

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.)

引用

页码：345 / 348

页数：4

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