Al-Nemri A R, Kilani R A, Salih M A, Al-Ajlan A A
Department of Pediatrics, Division of Neonatal-Perinatal Medicine, King Khaled University Hospital-King Saud University, Riyadh, Saudi Arabia.
Am J Med Genet. 2000 May 15;92(2):107-10. doi: 10.1002/(sici)1096-8628(20000515)92:2<107::aid-ajmg5>3.0.co;2-l.
We report on a newborn girl with Dubowitz syndrome (DS) and embryonal rhabdomyosarcoma (ERMS), with multiple chromosomal breakage (MCB). The tumor was resected but recurred in a few months, resulting in the infant's death. Malignancy and chromosomal breakage have been reported previously in DS. However, ERMS has not been reported among the malignant tumors diagnosed in DS. To our knowledge, concurrence of DS, ERMS, and MCB has not been reported previously. This is the first observation of DS in the Arab ethnic group.
我们报告了一名患有杜波维茨综合征（DS）、胚胎性横纹肌肉瘤（ERMS）且伴有多处染色体断裂（MCB）的新生女婴。肿瘤已被切除，但在几个月后复发，导致婴儿死亡。此前已有报道称DS患者存在恶性肿瘤和染色体断裂情况。然而，在诊断为DS的恶性肿瘤中尚未有ERMS的报道。据我们所知，DS、ERMS和MCB同时出现的情况此前尚未见报道。这是在阿拉伯族群中首次观察到DS病例。
