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Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis
Maureen Murphy-Ryan1, Apostolos Psychogios, Noralane M Lindor
1Mayo Medical School, Rochester, Minnesota, USA.
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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