Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis.
OBJECTIVE
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.
Murphy-Ryan
Maureen
M
Mayo Medical School, Rochester, Minnesota, USA.
Psychogios
Apostolos
A
Lindor
Noralane M
NM
D003238:Connective Tissue / Q000473:pathology*; D003937:Diagnosis, Differential; D017408:Guidelines as Topic; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics