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First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis–van Creveld syndrome) with ultrasound
Author(s) -
Dugoff L.,
Thieme G.,
Hobbins J. C.
Publication year - 2001
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2001.00255.x
Subject(s) - medicine , polydactyly , dysplasia , dwarfism , prenatal diagnosis , population , ectodermal dysplasia , obstetrics , obstetrics and gynaecology , pediatrics , pregnancy , anatomy , dermatology , fetus , pathology , genetics , environmental health , biology , gene
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. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology