Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

• Main Authors: Chih-Ping Chen (Author), Tsang-Ming Ko (Author), Tung-Yao Chang (Author), Schu-Rern Chern (Author), Shin-Wen Chen (Author), Shih-Ting Lai (Author), Tzu-Yun Chuang (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2018-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3). Case report: A 29-year-old, primigravid woman was referred for genetic counseling...