Loeys-Dietz syndrome: a primer for diagnosis and management.

Genet Med

1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA [2] Howard Hughes Institute, Chevy Chase, Maryland, USA.

Published: August 2014

Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys-Dietz syndrome.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131122PMC
http://dx.doi.org/10.1038/gim.2014.11DOI Listing

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