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Aphallia, lung agenesis and multiple defects of blastogenesis.

作者信息

Gérard-Blanluet Marion, Lambert Véronique, Khung-Savatovsky Suonavy, Perrin-Sabourin Laurence, Passemard Sandrine, Baumann Clarisse, Delezoide Anne-Lise, Verloes Alain

机构信息

Department of Medical Genetics, APHP Robert Debré Hospital, Paris, France.

出版信息

Fetal Pediatr Pathol. 2011;30(1):22-6. doi: 10.3109/15513815.2010.494698.

Abstract

We report the association of aphallia, with imperforate anus, bilateral renal dysplasia and complete right lung agenesis in a fetus born of non-consanguineous parents. No maternal diabetes was present. The multiple mesodermal anomalies present in this male fetus, with a severe form of Uro-Rectal-Septum Malformation Sequence associated with unilateral lung agenesis, and rib segmentation anomaly is consistent with an extended defect of blastogenesis, with apparent common timing of the malformations around the 5th to 7th weeks of gestation.

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