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Pediatria pre prax 6/2022
Loeys-Dietz syndrome
oeys-Dietz syndrome is a rare and heterogeneous autosomal dominant connective tissue disorder, characterized by severe vascular pathology, skin and skeletal abnormalities such as pectus carinatum/excavatum, scoliosis, arachnodactyly and typical craniofacial features. It is associated with increased risk of arterial aneurysms in variable location of the arterial tree, but mainly in aorta. Significant morbidity and mortality have been reported in individuals with Loeys-Dietz syndrome due to arterial (particularly aortic) dissection and rupture.
Keywords: connective tissue disorder, aortic aneurysm, arterial tortuosity, arachnodactyly
