A group of genetic disorders affecting collagen synthesis; patient is at risk for rupture of colon and large arteries, retinal detachment and diaphragmatic hernia. Which syndrome is described?

A group of genetic disorders affecting collagen synthesis; patient is at risk for rupture of colon and large arteries, retinal detachment and diaphragmatic hernia. Which syndrome is described?

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

Answer: (A)

Defects in collagen synthesis weaken connective tissue throughout the body. The vascular form of this syndrome causes extreme tissue fragility, so major vessels and hollow organs are prone to rupture, explaining the risk of colon and large-artery rupture. Ocular involvement like retinal detachment also fits due to fragile scleral collagen, and diaphragmatic hernia can occur from weakened fascial and diaphragmatic tissues. This combination is characteristic of Ehlers-Danlos syndrome. Marfan syndrome arises from a defect in fibrillin-1, not collagen itself, and features tall stature, arachnodactyly, aortic root dilation, and lens dislocation typically upward. Osteogenesis imperfecta mainly presents with bone fragility from type I collagen defects, blue sclerae, and hearing loss, rather than a pattern of widespread vascular rupture. Homocystinuria can mimic marfan features with lens subluxation and thrombotic risk but stems from methionine metabolism abnormalities, not a collagen synthesis disorder.

Defects in collagen synthesis weaken connective tissue throughout the body. The vascular form of this syndrome causes extreme tissue fragility, so major vessels and hollow organs are prone to rupture, explaining the risk of colon and large-artery rupture. Ocular involvement like retinal detachment also fits due to fragile scleral collagen, and diaphragmatic hernia can occur from weakened fascial and diaphragmatic tissues. This combination is characteristic of Ehlers-Danlos syndrome.

Marfan syndrome arises from a defect in fibrillin-1, not collagen itself, and features tall stature, arachnodactyly, aortic root dilation, and lens dislocation typically upward. Osteogenesis imperfecta mainly presents with bone fragility from type I collagen defects, blue sclerae, and hearing loss, rather than a pattern of widespread vascular rupture. Homocystinuria can mimic marfan features with lens subluxation and thrombotic risk but stems from methionine metabolism abnormalities, not a collagen synthesis disorder.