[HTML][HTML] Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis
M Murphy-Ryan, A Psychogios, NM Lindor - Genetics in Medicine, 2010 - Elsevier
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 …
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 …