Gérard-Blanluet Marion, Lambert Véronique, Khung-Savatovsky Suonavy, Perrin-Sabourin Laurence, Passemard Sandrine, Baumann Clarisse, Delezoide Anne-Lise, Verloes Alain
Department of Medical Genetics, APHP Robert Debré Hospital, Paris, France.
Fetal Pediatr Pathol. 2011;30(1):22-6. doi: 10.3109/15513815.2010.494698.
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.