Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

• Main Authors: Chih-Ping Chen (Author), Tung-Yao Chang (Author), Chen-Yu Chen (Author), Tao-Yeuan Wang (Author), Fuu-Jen Tsai (Author), Pei-Chen Wu (Author), Schu-Rern Chern (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2012-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type II short rib-polydactyly syndrome (SRPS) (Majewski). Case Report: A 34-year-old woman with a past history of fetal SRPS was referred to the hospital at 16 weeks of gestation bec...