Genetic Diseases of Connective Tissue

A tall, thin 19-year-old man is found to have ectopia lentis on slit-lamp examination and a dilated aortic root on echocardiography. Mutations in which gene are most likely responsible?

A 28-year-old woman with thin, translucent skin and easy bruising suffers a spontaneous sigmoid colon perforation and, two years later, a splenic artery rupture. Which Ehlers-Danlos subtype and gene are most consistent with this presentation?

According to the 2022 ACC/AHA aortic disease guideline, at what aortic root diameter is prophylactic aortic root replacement recommended for a patient with Marfan syndrome who has NO additional high-risk features?

Which Ehlers-Danlos syndrome subtype is the most common (80–90% of cases) AND the only subtype for which no causative gene has been identified, making it a purely clinical diagnosis?

In patients with osteogenesis imperfecta who survive beyond childhood, what is the leading cause of death?