Table 1 Clinical presentation of our case
Physical Examination | Positive Findings |
|---|---|
General appearance | Facial dysmorphism and stunted growth |
Anthropometry | Height -2.2 SDS, Weight -4 SDS |
Skin | Dry skin and mild dehydration |
Abdominal | Liver ≈ 5 cm below the costal margin and firm |
Neuromuscular | Bilateral and symmetrically reduced muscle power (4/5) in both upper and lower limbs |