EEC syndrome: report on 20 new patients, clinical and genetic considerations

Am J Med Genet. 1990 Sep;37(1):42-53. doi: 10.1002/ajmg.1320370112.

Abstract

We report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Ectodermal Dysplasia / genetics*
  • Female
  • Foot Deformities, Congenital / genetics
  • Genes, Dominant
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Lacrimal Apparatus / abnormalities
  • Limb Deformities, Congenital
  • Male
  • Mouth Abnormalities / diagnosis
  • Mouth Abnormalities / genetics*
  • Pedigree
  • Syndrome