EEC syndrome without ectrodactyly: report of two new families

J Med Genet. 1990 Mar;27(3):165-8. doi: 10.1136/jmg.27.3.165.

Abstract

In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anodontia / diagnosis
  • Anodontia / genetics
  • Child, Preschool
  • Facial Expression
  • Female
  • Foot Deformities, Congenital / diagnosis
  • Foot Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Syndrome