Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects

• Main Authors: Ting-Ying Lei (Author), Ru Li (Author), Fang Fu (Author), Jun-Hui Wan (Author), Yong-Ling Zhang (Author), Xiang-Yi Jing (Author), Can Liao (Author)
• Format: Book
• Published: Elsevier, 2016-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical lit...