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Table 2 Summary of clinical findings in the last assessment

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