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. 2010 Jun;12(6):344-54.
doi: 10.1097/GIM.0b013e3181e074f0.

Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis

Maureen Murphy-Ryan  1 , Apostolos Psychogios, Noralane M Lindor
Affiliations
Free article

Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis

Maureen Murphy-Ryan et al. Genet Med. 2010 Jun.
Free article

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.

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