Lapunzina P, Badia I, Galoppo C, De Matteo E, Silberman P, Tello A, Grichener J, Hughes-Benzie R
Department of Paediatrics, Hospital de Niños de Buenos Aires, University of Buenos Aires, Argentina.
J Med Genet. 1998 Feb;35(2):153-6. doi: 10.1136/jmg.35.2.153.
Simpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for developing neoplasia, mainly embryonic, such as Wilms tumour. We report a 3 year old male patient with SGBS and hepatocellular carcinoma, a previously undescribed tumour associated with the syndrome.
辛普森-戈拉比-贝梅尔综合征（SGBS）是一种X连锁疾病，其特征为出生前和出生后的过度生长、面部特征粗糙以及内脏和骨骼异常。与其他过度生长综合征一样，SGBS患者发生肿瘤的风险增加，主要是胚胎性肿瘤，如肾母细胞瘤。我们报告了一名3岁男性SGBS患者，其患有肝细胞癌，这是一种此前未被描述过的与该综合征相关的肿瘤。
