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

DUGOFF, L.
THIEME, G.
HOBBINS, J. C.

Department of Obstetrics and Gynecology and ^*Department of Radiology, University of Colorado Health Sciences Center, Denver, Colorado, USA

Correspondence: Dr L. Dugoff, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Campus Box B198, Denver, Colorado 80262, USA (e-mail: [email protected])

Received 7-2-00, Revised 27-4-00, Accepted 7-8-00

Ultrasound in Obstetrics & Gynecology 17(1):p 86-88, January 2001.

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.