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Updated: Jun 5, 2026

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse
Published on: December 16, 2022
Aphallia, lung agenesis and multiple defects of blastogenesis
Marion Gérard-Blanluet1, Véronique Lambert, Suonavy Khung-Savatovsky
1Department of Medical Genetics, APHP Robert Debré Hospital, Paris, France. marion.gerard@rdb.aphp.fr
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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