Greenberg F, Copeland K, Gresik M V
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.
Am J Med Genet. 1988 Apr;29(4):773-6. doi: 10.1002/ajmg.1320290406.
We report on an infant with manifestations of Perlman syndrome including polyhydramnios, macrosomia, bilateral nephromegaly with nephroblastomatosis, visceromegaly and cryptorchidism. Other findings in this infant not seen in previous patients were diaphragmatic hernia, interrupted aortic arch, hypospadias and polysplenia. This infant meets the diagnostic criteria for Perlman syndrome, suggesting that diaphragmatic hernia and cardiac defects may be additional findings in this disorder.
我们报告了一名患有佩尔曼综合征表现的婴儿，包括羊水过多、巨大儿、双侧肾肿大伴肾母细胞瘤病、内脏肿大和隐睾症。该婴儿还有一些之前患者未出现的其他发现，即膈疝、主动脉弓中断、尿道下裂和多脾症。这名婴儿符合佩尔曼综合征的诊断标准，提示膈疝和心脏缺陷可能是该疾病的额外表现。
