PMC3466859_01
Positive wrist sign and arachnodactily
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The patient's tall stature and arachnodactily (Figures 2 & 3) arouse the suspicion of MFS and he was referred to a cardiologist for further investigation.
Positive thumb sign
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The patient's tall stature and arachnodactily (Figures 2 & 3) arouse the suspicion of MFS and he was referred to a cardiologist for further investigation.
Parasternal view of echocardiography, showing aortic root dilatation AO, Aorta; LA, Left atrium; LV, Left ventricle; RA, Right atrium; RV, Right ventricle
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Echocardiography further established the diagnosis of MFS by demonstrating aortic root dilation and mitral valve prolapse (Figure 4).
Pedigree of the family
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In total, there are 11 individuals with MFS in this family, and we think MFS with such severe genetic penetration is rare (Figure 5).