Williams-Beuren syndrome (WBS) is a rare disorder caused by chromosome 7q11.23 deletion. Clinical manifestations are a happy looking dysmorphism, moderate mental retardation, growth retardation, and congenital heart defects (CHD). Short stature is found in about 50% of children with WBS, however, it is generally not severe. Here, we report a case of WBS associated with growth hormone deficiency (GHD).
The patient was the first child of healthy, non-consanguineous parents. He was born at term with weight of 2500 g (3p), length 48 cm (3p), and head circumference (HC) of 33 cm (3p). At age 3 years, he was referred for the first time because of dysmorphism and CHD. Serum calcium levels were elevated. He had severe growth retardation. His height was 73.6 cm (≤3p), weight 7300 g (≤3p), and HC was 43.5 cm (below -2 SDS). The karyotype was normal. FISH analysis showed hemizygously deleted 7q11.23. Measures yielded during endocrine evaluation were indicative of severe GHD. Treatment with hGH 1 U/day was started to which our patient responded well.
Short stature is found in about 50% of children with WBS. It is usually not severe and the postnatal overall growth is frequently along the 3p. For some WBS patients on the contrary, growth retardation is severe. To the best of our knowledge, there are only 3 patients with WBS reported to have associated GHD. The pathogenesis of GHD is unclear. A hypothalamic rather than pituitary defect is suggested. We recommend evaluation of growth hormone or at least screening by IGF-I measurements in all patients with microdeletions and unexplained short stature.