The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood. We go on to review the literature on the diagnosis and management of genitourinary malformations in EEC syndrome.

中文翻译：

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泌尿生殖道畸形：外生殖器，外胚层发育异常和唇left裂综合征的认识不足。

外胚层发育不良和唇裂/ pal裂（EEC）综合征描述了外胚层发育不良，外胚层发育不良和口面部裂隙的相关性。与许多常染色体显性遗传疾病一样，表达也存在差异，并非所有这三个核心特征都存在于这种情况下。此外，可能还有一些其他的相关功能，这些功能并未得到充分认识。其中之一是泌尿生殖系统异常的存在，其中一些会引起严重的发病率。该报告详细介绍了另外两名EEC综合征和泌尿生殖系统受累患者，包括伴有逼尿肌衰竭的松弛性大囊肿，双侧肾积水和大输尿管，在儿童时期需要大量肾脏和泌尿系统受累。