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The American College of Medical Genetics has a medical genetics database you can use to find a knowledgeable geneticist in your area. Helpful search terms include: connective tissue, bone/skeletal disorders, cardiovascular/connective tissue, adult congenital heart disease, adult medical genetics, pediatric genetics, and genetics counseling.
Related Resources
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a genetic disorder of connective tissue. Because connective tissue is found throughout the body, Loeys-Dietz syndrome features can occur in the heart, blood vessels, bones, joints, skin, and internal organs, such as the intestines, spleen, and uterus. Some Loeys-Dietz syndrome features are easy to see. Others features, such as heart and blood […]
Neonatal Marfan Syndrome Fact Sheet
Neonatal Marfan syndrome (also called infantile Marfan syndrome) is a term used to designate a severe presentation of Marfan syndrome that is evident in early infancy and shows rapid progression during childhood. Importantly, there are no specific criteria for use of this term. As a result, it is difficult to make broad generalizations about the diagnosis, […]
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