From: Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
Clinical data | Yes | Not | Unknown | ||
---|---|---|---|---|---|
Head and neck | Coarse facies | 10 | 3 | 0 | |
Corneal clouding | 8 | 5 | 0 | ||
Thick eyebrows | 10 | 3 | 0 | ||
Macroglossia | 9 | 4 | 0 | ||
Dental changes | 10 | 3 | 0 | ||
Gum hypertrophy | 9 | 3 | 1 | ||
Short neck | 13 | 0 | 0 | ||
Trunk | Short trunk | 13 | 0 | 0 | |
Kyphosis | 7 | 6 | 0 | ||
Scoliosis | 9 | 4 | 0 | ||
Gibbosity | 7 | 5 | 1 | ||
Pectus carinatum/excavatum | 9 | 4 | 0 | ||
Abdominal protrusion | 11 | 2 | 0 | ||
Hernia | 10 | 1 | 2 | ||
Visceromegaly palpable | Liver | 6 | 6 | 1 | |
Spleen | 5 | 7 | 1 | ||
Limbs | Joint contractures | 6 | 7 | 0 | |
Restricted mobility | 10 | 3 | 0 | ||
Claw hands | 5 | 7 | 1 | ||
Curved fingers | 6 | 6 | 1 | ||
Neurological | Neuromotor development delay | 13 | 0 | 0 | |
Cognitive deficit | 11 | 1 | 1 | ||
Limited vocabulary | 12 | 0 | 1 | ||
Behavior disturbances | 3 | 9 | 1 | ||
Seizures | 1 | 11 | 1 | ||
Radiographic and complementary exams findings | Reduced pulmonary function (CVF) | 0 | 5 | 7 | |
Valvular heart disease | 7 | 3 | 3 | ||
Cardiomyopathy | 0 | 11 | 2 | ||
Dysostosis multiplex | 13 | 0 | 0 | ||
Acetabular dysplasia in the hips | 9 | 2 | 2 | ||
Hepatosplenomegaly | 6 | 5 | 2 |