Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling

• Main Authors: Chih-Ping Chen (Author), Yi-Ning Su (Author), Chin-Yuan Hsu (Author), Schu-Rern Chern (Author), Fuu-Jen Tsai (Author), Pei-Chen Wu (Author), Po-Tsang Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2010-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld (EvC) syndrome. Materials, Methods and Results: A 33-year-old woman, gravida 3, para 1, was referred for genetic counseling at 18 gestational weeks because of recurrent fetal skeletal d...