| |
Clinically-detected, n = 17
|
Screen-detected, n = 4
|
P value
|
|---|
|
n
|
%
|
n
|
%
|
|---|
|
Hepatic nodules
|
17
|
100
|
2
|
50.0
|
0.029
|
|
Rickets
|
11
|
64.7
|
1
|
25.0
|
0.272
|
|
Hepatomegaly
|
10
|
58.8
|
1
|
25.0
|
0.311
|
|
Renomegaly
|
10
|
58.8
|
1
|
25.0
|
0.311
|
|
Ascites
|
9
|
52.9
|
0
|
0
|
0.104
|
|
Splenomegaly
|
6
|
35.3
|
0
|
0
|
0.281
|
|
CNS findings
|
3a
|
21.4
|
0
|
0
|
0.999
|
|
Cardiac findings
|
2b
|
13.3
|
0
|
0
|
0.999
|
|
No findings
|
0
|
0
|
1
|
25.0
|
0.190
|
- The conducted imaging studies included wrist X-ray, abdominal, cardiac and cranial ultrasound and liver and brain magnetic resonance imaging or computer tomography. Cardiac ultrasound was available for 19 patients, Central nervous system (CNS) imaging was done for 16 patients and the other imaging studies for all 21 patients
- aTwo cases with resolving cerebral atrophy and one craniopharyngioma
- bOne mild mitral regurgitation and one atrium septum defect
