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.
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
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Dugoff
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Thieme
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Hobbins
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