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Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency

Patient: Female, fetus Final Diagnosis: Antley-Bixler syndrome Symptoms: Craniosynostosis • midface hypoplasia • femoral bowing • radiohumeral synostosis Medication: None Clinical Procedure: Prenatal diagnosis of severe fetal bone disease using detailed ultrasonography and computed tomography Specia...

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Detalles Bibliográficos
Autores principales: Oldani, Elena, Garel, Catherine, Bucourt, Martine, Carbillon, Lionel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4687943/
https://www.ncbi.nlm.nih.gov/pubmed/26670660
http://dx.doi.org/10.12659/AJCR.895526