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Pediatrics Disorders of Amino acid Metabolism 12cb59fa

A child presented with tall stature, long spider leg like fingers, chest deformity and some vision problems. His eye examination shows the following: What is your diagnosis?

A
Marfan syndrome
B
Lowe syndrome
C
Homocystinuria
D
GM1 gangliosidosis
High-Yield Explanation
The skeletal abnormalities like tall stature, long spider leg like fingers, chest deformity and presence of eye lens dislocation in the superolateral direction, points to a diagnosis of Marfan syndrome. Homocystinuria- inferonasal dislocation of lens + marfanoid features Lowe syndrome- cataract GM1 gangliosidosis- macular cherry red spots

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