Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis
2010; Elsevier BV; Volume: 12; Issue: 6 Linguagem: Inglês
10.1097/gim.0b013e3181e074f0
ISSN1530-0366
AutoresMaureen Murphy‐Ryan, Apostolos Psychogios, Noralane M. Lindor,
Tópico(s)Hip disorders and treatments
ResumoPurposeTo 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.MethodsWe searched the medical literature for distinct clinical entities that shared clinical features with Marfan syndrome and other classical inherited disorders of connective tissue.ResultsThirty-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.ConclusionsA 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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