Patients with Marfan syndrome and related conditions (MASS phenotype, mitral valve prolapse syndrome, familial aortic dissection), Ehlers-Danlos syndrome and Stickler syndrome are being seen in the NHGRI Genetics Clinic. Clinical data collected include detailed information on skeletal, ocular and cardiovascular manifestations in each patient. Skin biopsies and blood samples for DNA analysis are being collected to enable correlation of clinical observations with specific biochemical and molecular findings. Additionally, clinical data will be analyzed to assess the validity of proposed new diagnostic criteria for Marfan syndrome. In collaboration with Iain McIntosh at Johns Hopkins, mutational analysis of DNA from patients with Nail-Patella syndrome has been performed.
