Which condition presents with tall stature, scoliosis, pectus excavatum, arachnodactyly, and lens dislocation?

Which condition presents with tall stature, scoliosis, pectus excavatum, arachnodactyly, and lens dislocation?

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

Answer: (B)

This constellation is characteristic of Marfan syndrome, a systemic connective tissue disorder due to fibrillin-1 defects. The tall stature with arachnodactyly, scoliosis, and pectus excavatum all reflect the abnormal connective tissue scaffolding that allows the skeleton to grow long and develop deformities. Lens dislocation is a classic feature because weakened zonules let the lens sublux, typically upward and outward in Marfan. There’s also a heightened risk of aortic root dilation and dissection from the same connective tissue weakness. Other conditions don’t fit this combination as neatly. Homocystinuria can also have tall stature and lens dislocation, but the lens usually dislocates downward and inward and it often comes with thromboembolic events and intellectual disability. Ehlers-Danlos presents mainly with joint hypermobility and skin hyperextensibility rather than the specific skeletal and ocular pattern described. Achondroplasia results in short stature, not tall, so it doesn’t match. So the described features best align with Marfan syndrome.

This constellation is characteristic of Marfan syndrome, a systemic connective tissue disorder due to fibrillin-1 defects. The tall stature with arachnodactyly, scoliosis, and pectus excavatum all reflect the abnormal connective tissue scaffolding that allows the skeleton to grow long and develop deformities. Lens dislocation is a classic feature because weakened zonules let the lens sublux, typically upward and outward in Marfan. There’s also a heightened risk of aortic root dilation and dissection from the same connective tissue weakness.

Other conditions don’t fit this combination as neatly. Homocystinuria can also have tall stature and lens dislocation, but the lens usually dislocates downward and inward and it often comes with thromboembolic events and intellectual disability. Ehlers-Danlos presents mainly with joint hypermobility and skin hyperextensibility rather than the specific skeletal and ocular pattern described. Achondroplasia results in short stature, not tall, so it doesn’t match.

So the described features best align with Marfan syndrome.