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

作者信息

Dugoff L, Thieme G, Hobbins J C

机构信息

Department of Obstetrics and Gynecology, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Campus Box B198, Denver, Colorado 80262, USA.

出版信息

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

DOI:10.1046/j.1469-0705.2001.00255.x

PMID:11244665

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.

摘要