Novak R W, Robinson H B
Children's Hospital Medical Center, Akron, OH 44308-1062.
Am J Med Genet. 1994 May 1;50(4):311-2. doi: 10.1002/ajmg.1320500402.
We describe 2 cases of DiGeorge anomaly with bilateral renal agenesis-one, who also had hemivertebrae, in an infant of an insulin-dependent diabetic mother (IDDM). In a review we identified 2 other instances of this combination, both in IDDMs. The currently accepted notion that DiGeorge anomaly and renal agenesis are developmental field defects, coupled with their coincidence in IDDM, suggests that this combination is an association.
我们描述了2例患有双侧肾缺如的DiGeorge异常病例——其中1例还患有半椎体畸形,患儿母亲为胰岛素依赖型糖尿病(IDDM)患者。在文献回顾中,我们又发现了另外2例这种情况的病例,患者母亲均为IDDM患者。目前公认的观点认为,DiGeorge异常和肾缺如是发育场缺陷,再加上它们在IDDM患者中同时出现,提示这种情况是一种关联。