European Journal of Human Genetics

FIGURE 2

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Marfan syndrome: clinical diagnosis and management

John C S Dean

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Figure 2.

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Boy aged 12 years 3 months with tall stature, joint hypermobility, a high arched palate with dental crowding, arachnodactyly and pes plenus. As he has no other clinical signs (particularly no eye signs), the diagnosis using the Ghent criteria can only be assured following echocardiography (showing a dilated aortic root), and with knowledge of his positive family history.

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