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