Nardi A C, Ferreira U, Netto Júnior N R, Magna L A, Rodini E S, Richieri-Costa A
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Am J Med Genet. 1992 Dec 1;44(6):803-6. doi: 10.1002/ajmg.1320440617.
We have evaluated 25 patients (14 isolated and 11 familial cases) with the EEC syndrome for genitourinary (GU) tract anomalies through intravenous pyelogram (IVP), voiding urethrocystography, and sonographic examination. Fifty-two percent of the patients (7 isolated and 6 familial cases) had involvement of the urinary tract, with no significant difference between isolated and familial cases. The present data seem to reflect the best estimate of the prevalence of genitourinary anomalies in patients with the EEC syndrome.
我们通过静脉肾盂造影（IVP）、排尿性尿道膀胱造影和超声检查，对25例患有EEC综合征的患者（14例散发病例和11例家族性病例）的泌尿生殖道异常情况进行了评估。52%的患者（7例散发病例和6例家族性病例）存在尿路受累情况，散发病例和家族性病例之间无显著差异。目前的数据似乎反映了EEC综合征患者泌尿生殖道异常患病率的最佳估计值。
