Nelson Rachel A, McNamara Michelle, Ellis William, Stein-Wexler Rebecca, Moghaddam Billur, Zwerdling Theodore
Department of Pediatrics, University of California at Davis, Sacramento, California 95817, USA.
Am J Med Genet A. 2009 Oct;149A(10):2265-9. doi: 10.1002/ajmg.a.33014.
We report on a 5-year-old male with expressive language delay, developmental delay, short stature, and facial anomalies consistent with Floating-Harbor syndrome (FHS). In addition, he developed an intramedullary ganglioglioma. This is the first reported case of a tumor associated with FHS, and may represent an as yet undefined genetic link between spinal cord tumors and FHS, adding this syndrome to the growing list of disorders with a predisposition for tumor development.
我们报告了一名5岁男性，患有表达性语言延迟、发育迟缓、身材矮小以及与漂浮港综合征（FHS）相符的面部异常。此外，他还患上了髓内神经节胶质瘤。这是首例报道的与FHS相关的肿瘤病例，可能代表脊髓肿瘤与FHS之间尚未明确的遗传联系，使该综合征加入到易患肿瘤的疾病名单中，且这一名单还在不断增加。
