Signs |
Case Status |
MPS II |
MPS I |
MPS III |
Coarse Facial features |
Present/ frontal bossing, thick eyebrows,
depressed nasal bridge, broad lip, malocclusion of teeth, oral ulcer,
short neck and small stubby fingers [Figure 1(a,c,d)]
|
++ |
++ |
+ |
Macrocephaly |
Present/ OFC 58 cm |
++ |
++ |
+ |
Communicating hydrocephalus |
Not assessed |
+ |
+ |
─ |
Dental abnormalities |
Present |
++ |
+ |
─ |
Cognitive/ developmental delay |
Present |
+ (Severe patients only) |
+
(Severe patients only) |
++ |
Spinal cord compression |
Not assessed |
+ |
+ |
─ |
Carpal tunnel syndrome |
Absent |
++ |
++ |
─ |
Hyperactivity, aggression, impulsivity |
Present |
+ |
─ |
++ |
Seizures |
Absent |
+ |
─ |
+ |
Hearing loss |
Mild |
++ |
++ |
+ |
Recurrent ear infection |
Present |
++ |
++ |
+ |
Persistent rhinorrhea |
Present |
++ |
++ |
+ |
Frequent respiratory infections |
Present |
++ |
++ |
+ |
Respiratory obstruction |
Present |
++ |
++ |
─ |
Sleep apnea |
Present |
++ |
++ |
+ |
Hepatosplenomegaly |
Present/ hepatomegaly 6 cm from subcostal margin in
right sub clavicular line. |
++ |
++ |
+ |
Umbilical hernia |
Present [Figure 1(b)]
|
++ |
++ |
+ |
Chronic diarrhea |
Absent |
++ |
+ |
+ |
Dystosis multiplex |
Present (bullet shaped meta-phalanges, spatulated
ribs) [Figure 2(a,b)]
|
++ |
++ |
+ |
Growth retardation |
Present |
++ |
++ |
─ |
Claw hands |
Absent |
++ |
++ |
─ |
Joint stiffness |
Present |
++ |
++ |
+ |
Cardiac valve disease |
Not assessed |
++ |
++ |
+ |
Corneal clouding |
Absent |
─ |
++ |
─ |
“+” = Present, “─” = Absent |
“+” = Present, “─” = Absent |
“+” = Present, “─” = Absent |
“+” = Present, “─” = Absent |
“+” = Present, “─” = Absent |
Structure of this table is modified upon the work of Burton, B.K.,
Giugliani, R. Diagnosing Hunter syndrome in pediatric practice:
practical considerations and common pitfalls. Eur J Pediatr 171,
631–639 (2012).
https://doi.org/10.1007/s00431-012-1703-y
|
Structure of this table is modified upon the work of Burton, B.K.,
Giugliani, R. Diagnosing Hunter syndrome in pediatric practice:
practical considerations and common pitfalls. Eur J Pediatr 171,
631–639 (2012).
https://doi.org/10.1007/s00431-012-1703-y
|
Structure of this table is modified upon the work of Burton, B.K.,
Giugliani, R. Diagnosing Hunter syndrome in pediatric practice:
practical considerations and common pitfalls. Eur J Pediatr 171,
631–639 (2012).
https://doi.org/10.1007/s00431-012-1703-y
|
Structure of this table is modified upon the work of Burton, B.K.,
Giugliani, R. Diagnosing Hunter syndrome in pediatric practice:
practical considerations and common pitfalls. Eur J Pediatr 171,
631–639 (2012).
https://doi.org/10.1007/s00431-012-1703-y
|
Structure of this table is modified upon the work of Burton, B.K.,
Giugliani, R. Diagnosing Hunter syndrome in pediatric practice:
practical considerations and common pitfalls. Eur J Pediatr 171,
631–639 (2012).
https://doi.org/10.1007/s00431-012-1703-y
|