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AI Accurately Diagnoses Genetic Condition from Facial Photographs

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Credit: Pixabay/CC0 Public Domain

A Yale School of Medicine team reports in a new study that an artificial intelligence (AI) model was able to reliably diagnose people living with Marfan syndrome from a simple facial photograph.

Marfan syndrome is a genetic disorder, affecting about 1 in 3,000 people, which impacts the body’s connective tissues. “Patients living with Marfan syndrome are usually very tall and thin,” said John Elefteriades, MD, professor of surgery at Yale School of Medicine and senior author of the study. “They have long faces and are prone to spine and joint issues. However, many are not diagnosed.”

Marfan syndrome increases the risk for aortic dissection, where the aorta splits suddenly after becoming enlarged...

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