Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies.

  title={Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies.},
  author={Jan J J Aalberts and Chris H L Thio and Agnes G. Schuurman and Irene Marijke Van Langen and B van der Pol and J Peter van Tintelen and Maarten P. van den Berg},
  journal={American journal of medical genetics. Part A},
  volume={158A 5},
Marfan syndrome (MFS) is diagnosed according to the Ghent nosology, which has recently been revised. In the Netherlands, evaluation for possible MFS is performed in specialized Marfan outpatient clinics. We investigated the diagnostic yield in our clinic and the impact of the 2010 nosology. All adult patients (n = 343) who visited our clinic between 1998 and 2008 were included. We analyzed their reasons for referral, characteristics, and established diagnoses. In addition, we applied the 2010… CONTINUE READING

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