Growth retardation is a consistent finding in Williams-Beuren syndrome. The
cause of short stature in this syndrome is unknown. Endocrine studies have
failed to reveal abnormalities in the growth hormone - insulin-like growth
factor I axis. We report a boy with confirmed Williams-Beuren syndrome, wh
o was found to have classical growth hormone deficiency and responded well
to growth hormone therapy.
Conclusion Although growth hormone deficiency is not likely to be a common
cause of Short stature in Williams-Beuren syndrome, we nevertheless recomme
nd evaluation of the growth hormone - insulin-like growth factor I axis in
all cases.