Table 1 Overview of clinical manifestations of GS (late infantile form) in a 12-year-old patient

Musculoskeletal involvement

Coarse facial features

Short stature

Vertebral deformity

- lumbar kyphosis based on L2 hypoplasia

Joint dysplasia

- hips, shoulders, knees and wrists

Contractures

- knees, elbows, wrists and the 2nd, 3rd and 4th proximal interphalangeal joints

Visceral involvement

Cardiac pathology

- mitral valve regurgitation (mild) and aortic valve regurgitation (mild)

Eye involvement

Macular cherry-red-spots