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

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...

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Bibliographic Details
Main Authors: Marialuigia Spinelli, Carmine Sica, Bruno Dallapiccola, Antonio Novelli, Letizia Di Meglio, Pasquale Martinelli
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Case Reports in Obstetrics and Gynecology
Online Access:http://dx.doi.org/10.1155/2015/830108
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