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EEC syndrome and genitourinary anomalies: An update

✍ Scribed by Maas, Saskia M.; de Jong, Tom P. V. M.; Buss, Paul; Hennekam, Raoul C. M.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 70 KB
Volume: 63
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960614)63:3<472::aid-ajmg11>3.0.co;2-j

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✦ Synopsis

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.

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