Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome

Prenat Diagn. 1993 Jun;13(6):519-22. doi: 10.1002/pd.1970130614.

Abstract

Transvaginal ultrasonography performed at 14 weeks' gestation demonstrated a bilateral cleft lip and lobster-claw deformities of the hands and feet, in keeping with the diagnosis of EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate). The fetus was aborted and the diagnosis of EEC syndrome was confirmed.

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Cleft Palate / diagnostic imaging
  • Ectodermal Dysplasia / diagnostic imaging
  • Female
  • Foot Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / diagnostic imaging
  • Humans
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal*
  • Vagina