Skip to main content

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

From: Inflammatory arthritis complicating galactosialidosis: a case report

Musculoskeletal involvement
Coarse facial features
Short stature
Vertebral deformity
- lumbar kyphosis based on L2 hypoplasia
Joint dysplasia
- hips, shoulders, knees and wrists
- 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