Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling
β Scribed by Chih-Ping Chen; Yi-Ning Su; Chin-Yuan Hsu; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Po-Tsang Chen; Wayseen Wang
- Book ID
- 117697514
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 993 KB
- Volume
- 49
- Category
- Article
- ISSN
- 1028-4559
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Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. A woman underwent sonographic examination at 27 weeks' menstrual age to rule out anomalies because
We report a personal experience of first-trimester prenatal diagnosis of Ellis-van Creveld (EvC) syndrome based on typing of microsatellite markers flanking the EvC locus. An heterozygous fetus was diagnosed with a diagnostic accuracy of 96 per cent. The DNA prediction was confirmed by ultrasound at