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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Detalles Bibliográficos
Autores principales: Spinelli, Marialuigia, Sica, Carmine, Dallapiccola, Bruno, Novelli, Antonio, Di Meglio, Letizia, Martinelli, Pasquale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4434197/
https://www.ncbi.nlm.nih.gov/pubmed/26064728
http://dx.doi.org/10.1155/2015/830108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4434197/
https://www.ncbi.nlm.nih.gov/pubmed/26064728
http://dx.doi.org/10.1155/2015/830108

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