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Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities.
Cloacal dysgenesis sequence occurs as a result of complete developmental failure of the urorectal septum. Typically, the sequence is featured by a smooth perineum, without any urethral, genital or anal openings. Its clinical manifestation differs throughout gestation. We report an interesting case of first trimester megacystis with associated umbilical cord abnormalities in a female fetus having cloacal dysgenesis sequence. This rare association reflecting high urinary pressure should first suggest urethral atresia. Our case highlights the importance of routine inspection of umbilical cord in the workup of early megacystis in terms of both etiology and fetal diagnosis.
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