First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound

Ultrasound Obstet Gynecol. 2001 Jan;17(1):86-8. doi: 10.1046/j.1469-0705.2001.00255.x.

Abstract

Chondroectodermal dysplasia (Ellis-van Creveld syndrome) is an autosomal recessive condition characterized by short-limb dwarfism, postaxial polydactyly, ectodermal defects, and congenital heart disease. This condition is most prevalent in the Amish population of Lancaster, Pennsylvania, USA, occurring in 1/5000 births and in 1/60,000 births in the general population. This report presents a case of ultrasonographic detection of chondroectodermal dysplasia at 12 weeks of gestation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ellis-Van Creveld Syndrome / diagnostic imaging*
  • Ellis-Van Creveld Syndrome / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Pregnancy
  • Pregnancy Trimester, First
  • Ultrasonography, Prenatal*