Table 1 Clinical characteristics scored in the patient cohort
Clinical characteristic | Number of patients in whom information was available | p-value |
|---|---|---|
Respiratory manifestations | ||
Signs and symptoms of upper respiratory tract obstruction | 19 | <0.01 |
Herniae | ||
Umbilical hernia | 18 | 0.6 |
Inguinal hernia | 19 | <0.05 |
Organomegaly | ||
Hepatomegaly | 1 | X |
Splenomegaly | 1 | X |
Musculoskeletal manifestations | ||
Stiff joints/contractures | 2 | X |
Kyphosis | 1 | X |
Scoliosis | 1 | X |
Hip dysplasia | 1 | X |
Other | ||
Hearing impairment | 3 | X |
Hydrocephalus | 0 | X |
Cardiomyopathy | 0 | X |
Macrocephaly | 1 | X |
Corneal clouding | 0 | X |