The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

• Main Authors: Marialuigia Spinelli (Author), Carmine Sica (Author), Bruno Dallapiccola (Author), Antonio Novelli (Author), Letizia Di Meglio (Author), Pasquale Martinelli (Author)
• 格式: 图书
• 出版: Hindawi Limited, 2015-01-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unles...