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

2001/01/01 by L. Dugoff, Lorraine Dugoff, G. Thieme +2
Biochemistry, Genetics and Molecular Biology · #Genetic Syndromes and Imprinting #Genetic and Kidney Cyst Diseases #Renal and related cancers

paper · pdf · doi:10.1046/j.1469-0705.2001.00255.x

openalex publication_date 2001/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/30

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.

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