EEC syndrome and genitourinary anomalies: an update

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.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Ectodermal Dysplasia / complications
  • Ectodermal Dysplasia / genetics
  • Female
  • Foot Deformities, Congenital
  • Glycosaminoglycans / therapeutic use
  • Hand Deformities, Congenital
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Pregnancy
  • Urinary Bladder / abnormalities
  • Urinary Bladder / pathology*
  • Urination Disorders / drug therapy
  • Urination Disorders / genetics*

Substances

  • Glycosaminoglycans