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?
Marfan syndrome
Lowe syndrome
Homocystinuria
GM1 gangliosidosis
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
Disorders of Amino acid Metabolism