PMC3350259_01
Proband with hepatomegaly at 4 years of age.
CRIM.PEDIATRICS2011-564868.001.jpg
PMC3350259_01_CRIM.PEDIATRICS2011-564868.001.jpg
fig1
Ultrasound scanning at this time showed an enlarged liver measuring 15.5 cm in size (Figure 1).
(a) X-ray of RT T/F AP/LAT shows osteoporosis and fractures. (b) X-ray of RT humerus shows severe osteoporosis.
CRIM.PEDIATRICS2011-564868.002.jpg
PMC3350259_01_CRIM.PEDIATRICS2011-564868.002.jpg
fig2
X-ray of the right tibia/fibula anteroposterior and lateral view revealed osteoporosis and fracture (Figure 2(a)) and X-ray of the right humerus revealed severe osteoporosis with cortical irregularity and fracture seen along midshaft of the humerus (Figure 2(b)).