Greenberg F, Stein F, Gresik M V, Finegold M J, Carpenter R J, Riccardi V M, Beaudet A L
Am J Med Genet. 1986 May;24(1):101-10. doi: 10.1002/ajmg.1320240112.
In 1973, Perlman et al described a familial syndrome of bilateral renal hamartomas with or without nephroblastomatosis, macrosomia, islet cell hypertrophy, unusual facies, and early lethality. Two additional sibs were recently reported by Neri et al [1984]. We report on two sibs with polyhydramnios, fetal ascites, and abdominal muscular hypoplasia, visceromegaly, and subsequent development of Wilms tumor in one of them. Delineated features of this syndrome include visceromegaly, macrosomia, renal hamartomas, nephroblastomatosis, cryptorchidism in males, unusual facial appearance, polyhydramnios, fetal ascites, and Wilms tumor but do not include hemihypertrophy, omphalocele or umbilical abnormalities, aniridia, or other conditions known to be associated with Wilms tumor. This condition should be considered primarily in the differential diagnosis of fetal ascites without hydrops and possibly in the differential diagnosis of familial Wilms tumor, polyhydramnios, congenital hepatomegaly, or nephromegaly.
1973年，佩尔曼等人描述了一种家族性综合征，其特征为双侧肾错构瘤，伴或不伴有肾母细胞瘤病、巨体症、胰岛细胞肥大、特殊面容以及早期致死性。内里等人[1984年]最近又报告了另外两名患病同胞。我们报告了两名同胞，其中一人患有羊水过多、胎儿腹水、腹部肌肉发育不全、内脏肿大，随后发生了肾母细胞瘤。该综合征的明确特征包括内脏肿大、巨体症、肾错构瘤、肾母细胞瘤病、男性隐睾、特殊面容、羊水过多、胎儿腹水以及肾母细胞瘤，但不包括半侧肥大、脐膨出或脐部异常、无虹膜或其他已知与肾母细胞瘤相关的病症。在鉴别诊断无水肿的胎儿腹水时应首先考虑这种病症，在鉴别诊断家族性肾母细胞瘤、羊水过多、先天性肝肿大或肾肿大时也可能需要考虑。
