The Loeys-Dietz syndrome

February 2007
Archives of Disease in Childhood;Feb2007, Vol. 92 Issue 2, p119
Academic Journal
The article discusses the nature and causes of Loeys-Dietz syndrome. The disease was known to be an autosomal dominant syndrome which is described by aortic and peripheral aneurysms and arterial contortion, bifid uvula or cleft palate and hypertelorism. It is caused by gene mutations for the transforming growth factor beta receptors 1 or 2. The differential diagnosis of the syndrome includes atypical Marfan syndrome, vascular Ehlers-Danlos syndrome and familial thoracic aortic aneurysm.


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