Abstract
Purpose: To create a practical desk reference for clinicians focused on the differential diagnosis of individuals presenting with features that suggest an inherited disorder of connective tissue. Methods: We searched the medical literature for distinct clinical entities that shared clinical features with Marfan syndrome and other classical inherited disorders of connective tissue. Results: Thirty-six distinct heritable disorders of connective tissue were identified that have overlapping features. These disorders were organized into two matrices according to clinical characteristics and according to causative genes. Conclusions: A broad differential diagnosis is emerging for individuals presenting with features suggestive of altered connective tissue. Recent advances in molecular genetics have aided in the delineation of these disorders.
Original language | English (US) |
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Pages (from-to) | 344-354 |
Number of pages | 11 |
Journal | Genetics in Medicine |
Volume | 12 |
Issue number | 6 |
DOIs | |
State | Published - Jun 2010 |
Keywords
- aneurysm
- aorta
- connective tissue
- dissection
- vascular disease
ASJC Scopus subject areas
- Genetics(clinical)