Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome

Am J Med Genet. 1992 Feb 1;42(3):276-80. doi: 10.1002/ajmg.1320420303.

Abstract

We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz-Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Ectodermal Dysplasia / complications*
  • Eye Abnormalities / complications
  • Female
  • Focal Dermal Hypoplasia / classification*
  • Humans
  • Infant
  • Limb Deformities, Congenital
  • Mouth Abnormalities / complications
  • Syndrome
  • Urogenital Abnormalities