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Loeys-Dietz syndrome type 2B (LDS2B); Marfan syndrome type 2
Genetics:
- associated with defects in TGFBR2
Pathology:
- aortic aneurysm syndrome with widespread systemic involvement
Clinical manifestations:
- prominent joint laxity
- easy bruising
- wide & atrophic scars
- velvety & translucent skin with easily visible veins
- spontaneous rupture of the spleen or bowel
- diffuse arterial aneurysms & dissections
- catastrophic complications of pregnancy, including rupture of the gravid uterus & the arteries, either during pregnancy or in the immediate postpartum period
- absence of craniofacial abnormalities with the exception of bifid uvula that can be present in some patients
Related
Marfan syndrome
General
Loeys-Dietz syndrome
familial aortic aneurysm
Database Correlations
OMIM 610380]
References
UniProt :accession P36897