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Aortic root dilation in apparent Lujan-Fryns syndrome by Wittine, Lara M.; Josephson, Kevin D.; Williams, Marc S. is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Aortic root dilation in apparent Lujan-Fryns syndrome about?

We present a patient and his maternal uncle who have a subaortic ventricular septal defect and aortic root dilation. They both have physical anomalies, characteristic behaviors, and cognitive disabilities that are consistent with the diagnosis of Lujan-Fryns syndrome (LFS). Although there have been 4 cases reported in the literature with heart findings, ventricular septal defect and aortic root dilation have not been previously reported in LFS. Differentiation between LFS and Marfan syndrome (MS) is discussed. The pathophysiology of LFS as a connective tissue disorder is also considered. Am. J. Med. Genet. 86:405-409, 1999.

Who reads Aortic root dilation in apparent Lujan-Fryns syndrome?

Author

Wittine, Lara M.; Josephson, Kevin D.; Williams, Marc S.

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1999

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)