Vanderschueren-Lodeweyckx M, Fryns J P, Van den Berghe H, Eggermont E, Eeckels R
Am J Dis Child. 1984 Sep;138(9):812-6. doi: 10.1001/archpedi.1984.02140470012004.
We treated two patients with Bloom's syndrome and conducted extensive endocrine studies. In one patient, we studied longitudinal growth and pubertal development and the effect of exogenous human growth hormone on growth velocity. Establishing a diagnosis of Bloom's syndrome is difficult in clinical practice. Measurement of the frequency of sister chromatid exchanges is essential in patients with growth retardation of intrauterine origin.
我们治疗了两名患有布卢姆综合征的患者，并进行了广泛的内分泌研究。在一名患者中，我们研究了纵向生长和青春期发育以及外源性人生长激素对生长速度的影响。在临床实践中，布卢姆综合征的诊断很困难。对于宫内起源生长迟缓的患者，测量姐妹染色单体交换频率至关重要。
