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Table 4 The 27 items occurring in the 20 case histories, in ascending order of frequency

From: Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Items Frequency of occurrence (%)
1. Disturbed pulmonary function 5
2. Hypertrichosis 5
3. Sternum protruded 5
4. Cardiomyopathy 10
5. Macroglossia 10
6. Growth retardation 15
7. Hypotonia in infancy 15
8. Hydrocephalus 20
9. Carpal tunnel syndrome 25
10. OSAS 25
11. Hip dysplasia 30
12. Large head/frontal bossing* 35
13. Valvular heart disease 40
14. Early diagnosis (<1.5 yr)* 40
15. Inguinal hernia 40
16. Hearing problems 40
17. Developmental delay* 55
18. Dysostosis multiplex* 55
19. Kyphosis* 65
20. Abdominal hernia 70
21. Coarse facial features* 70
22. Early onset of symptoms (<1.5 yr)* 75
23. Joint stiffness/arthropathy/contractures 80
24. Hepatosplenomegaly 75
25. Corneal clouding 85
26. Recurrent otitis media 85
27. Recurrent upper airway infection 90
  1. For the items marked with an*, there was a statistically significant difference in the median expert score between the cases with and without this item.