1.
J Med Genet
; 37(9): 719-21, 2000 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11182936
2.
Eur J Pediatr
; 158(6): 451-4, 1999 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-10378390
RESUMO
UNLABELLED: 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, who 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 recommend evaluation of the growth hormone-insulin-like growth factor I axis in all cases.