Maas S M, de Jong T P, Buss P, Hennekam R C
Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
Am J Med Genet. 1996 Jun 14;63(3):472-8. doi: 10.1002/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J.
We report on a large family with the ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome. The clinical manifestations in this family show great variability. Specific genitourinary anomalies were found. The propositus with micturition problems is discussed in detail. A dysplastic bladder epithelium might be the cause of these problems. A remarkable improvement of the complaints was achieved upon treatment with synthetic sulfonated glycosaminoglycans.
我们报告了一个患有缺指（趾）-外胚层发育不良-腭裂（EEC）综合征的大家族。该家族中的临床表现具有很大的变异性。发现了特定的泌尿生殖系统异常。详细讨论了患有排尿问题的先证者。发育异常的膀胱上皮可能是这些问题的原因。使用合成磺化糖胺聚糖治疗后，症状有了显著改善。
