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arterial tortuosity syndrome
Pathology:
- tortuosity & elongation of major arteries
- common features
a) aneurysms of large arteries
b) stenosis of the pulmonary artery
- fragmentation of elastic fibers in the tunica media of large arteries
Genetics:
- autosomal recessive
- associated with defects in SLC2A10
Clinical manifestations:
- death at young age is common
- facial features
- connective tissue manifestations including soft skin & joint laxity
General
genetic syndrome (multisystem disorder)
arterial disease
Database Correlations
OMIM 208050
References
OMIM :accession 208050