Williams syndrome and growth hormone deficiency

Growth hormone treatment in a child with Williams-Beuren syndrome: a case report

“…To our knowledge our patient is the ®rst case of con®rmed WBS with GHD. In the literature only one case of presumed WBS with GHD has been reported [21]. This study, however, neither stated the growth hormone levels after a provocation test nor con®rmed the clinical diagnosis of WBS by FISH or by analysis of the molecular markers in the elastin region.…”

Endocrine manifestations in children with Williams–Beuren syndrome

“…The diagnosis was confirmed by GH stimulation tests. There are few case reports of GH deficiency in children with WBS . Therefore, we recommend evaluation of the GH‐IGF1 axis when growth deviates when plotted on WBS‐specific growth charts.…”

Growth hormone deficiency in the Rothmund‐Thomson syndrome

“…The reason for the occurrence of growth hormone deficiency in patients with diverse chromosome abnormalities [Brook, 1978;Kauli et al, 1979;Faggiano et al, 1975;Leisti et al, 1973;Ruvalcaba et al, 1972;Stelling et al, 1980;Koivisto et al, 1976;Holmes and Atkins, 19681 and in other syndrome complexes [Stelling et al, 1980;Hall, 1978;Eeckels et al, 1970;Stogmann et al, 1978;Costin et al, 1972;Clarke and Weldon, 1975;Pochedly et al, 1971;Zachmann et al, 1971;Kodama et al, 1981;Spadoni et al, 1983;Hall et al, 1980b;Leisti et al, 1973;Fleisher et al, 1980;Villee et al, 19691 is not apparent. No consistent chromosome abnormality or anatomic defect has been described in these conditions.…”