The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features.

Abstract

Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial… (More)
DOI: 10.1002/ca.23034

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