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.
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.
Authors: Natalia I Dmitrieva; Avram D Walts; Dai Phuong Nguyen; Alex Grubb; Xue Zhang; Xujing Wang; Xianfeng Ping; Hui Jin; Zhen Yu; Zu-Xi Yu; Dan Yang; Robin Schwartzbeck; Clifton L Dalgard; Beth A Kozel; Mark D Levin; Russell H Knutsen; Delong Liu; Joshua D Milner; Diego B López; Michael P O'Connell; Chyi-Chia Richard Lee; Ian A Myles; Amy P Hsu; Alexandra F Freeman; Steven M Holland; Guibin Chen; Manfred Boehm Journal: J Clin Invest Date: 2020-08-03 Impact factor: 14.808
Authors: Jacob Steinle; Waheeda A Hossain; Olivia J Veatch; Samuel P Strom; Merlin G Butler Journal: Am J Med Genet A Date: 2022-07-29 Impact factor: 2.578
Authors: Patrick R Blackburn; Zhi Xu; Kathleen E Tumelty; Rose W Zhao; William J Monis; Kimberly G Harris; Jennifer M Gass; Margot A Cousin; Nicole J Boczek; Mario V Mitkov; Mark A Cappel; Clair A Francomano; Joseph E Parisi; Eric W Klee; Eissa Faqeih; Fowzan S Alkuraya; Matthew D Layne; Nazli B McDonnell; Paldeep S Atwal Journal: Am J Hum Genet Date: 2018-03-29 Impact factor: 11.025
Authors: N Riise; B R Lindberg; M A Kulseth; S O Fredwall; R Lundby; M-E Estensen; L Drolsum; E Merckoll; K Krohg-Sørensen; B Paus Journal: BMC Med Genet Date: 2018-08-31 Impact factor: 2.103