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

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.
AuthorsE S Rodini, A Nardi, M L Guion-Almeida, A Richieri-Costa
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 42 Issue 3 Pg. 276-80 (Feb 01 1992) ISSN: 0148-7299 [Print] United States
PMID1536161 (Publication Type: Case Reports, Journal Article)
Topics
  • 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

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