Long extremities and kyphosis with mitral valve prolapse and aortic dilation/dissection are characteristic of which syndrome?

Long extremities and kyphosis with mitral valve prolapse and aortic dilation/dissection are characteristic of which syndrome?

• A. Turner syndrome
• B. Osteogenesis imperfecta
• C. Marfan syndrome
• D. Ehlers-Danlos syndrome

Answer: (C)

The main idea is recognizing a systemic connective tissue disorder that produces an tall, slender habitus with skeletal and vascular involvement. In Marfan syndrome, a defect in fibrillin-1 leads to abnormal connective tissue and predisposes to dilation of the aortic root and risk of dissection, as well as mitral valve prolapse. The long extremities and kyphosis reflect the characteristic skeletal manifestations, while MVP paired with aortic dilation/dissection is a classic combination in this condition. Turner syndrome would more likely show short stature and other neck/heart features; osteogenesis imperfecta centers on bone fragility with blue sclera rather than tall habitus; Ehlers-Danlos can involve vascular rupture but typically presents with hypermobile joints and skin fragility.

The main idea is recognizing a systemic connective tissue disorder that produces an tall, slender habitus with skeletal and vascular involvement. In Marfan syndrome, a defect in fibrillin-1 leads to abnormal connective tissue and predisposes to dilation of the aortic root and risk of dissection, as well as mitral valve prolapse. The long extremities and kyphosis reflect the characteristic skeletal manifestations, while MVP paired with aortic dilation/dissection is a classic combination in this condition. Turner syndrome would more likely show short stature and other neck/heart features; osteogenesis imperfecta centers on bone fragility with blue sclera rather than tall habitus; Ehlers-Danlos can involve vascular rupture but typically presents with hypermobile joints and skin fragility.