First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound.
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.
Dugoff
L
L
Department of Obstetrics and Gynecology, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Campus Box B198, Denver, Colorado 80262, USA. Lorraine.Dugoff@uchsc.edu
Thieme
G
G
Hobbins
J C
JC
D000328:Adult; D004613:Ellis-Van Creveld Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal