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Loeys-Dietz syndrome

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Description

A connective tissue disorder with features similar to those of Marfan syndrome. Common featuress include increased risk of ascending aortic aneurysm and aortic dissection, and abnormally long limbs and fingers. Additional features include widely spaced eyes, a split uvula in the back of the throat, and findings such as easy bruising and scars. Inheritance is autosomal dominant.

Bibliography

Bart L Loeys, Junji Chen, Enid R Neptune, Daniel P Judge, Megan Podowski, Tammy Holm, Jennifer Meyers, Carmen C Leitch, Nicholas Katsanis, Neda Sharifi, F Lauren Xu, Loretha A Myers, Philip J Spevak, Duke E Cameron, Julie De Backer, Jan Hellemans, Yan Chen, Elaine C Davis, Catherine L Webb, Wolfram Kress, Paul Coucke, Daniel B Rifkin, Anne M De Paepe & Harry C Dietz:
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.  Nature Genetics, New York, 2005, 37 (3): 275-281.

C. S. Ki, D. K. Jin, S. H. Chang, J. E. Kim, J. W. Kim, B. K. Park, J. H. Choi, I. S. Park, H. W. Yoo:
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys–Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome
Clinical Genetics, 2005, 68 (6): 561-563.

B. L. Loeys, U. Schwarze, T. Holm, et al:
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
The New England Journal of Medicine, Boston, 2006, 355 (8): 788-798.

S. A. LeMaire, H. Pannu, V. Tran-Fadulu, S. A. Carter, J. S. Coselli, D. M. Milewicz:
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.
Nature Clinical Practice. Cardiovascular Medicine, March 2007, 4 (3): 167–171.

We thank Professor Juan Yara for information submitted.

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