Cloacal dysgenesis sequence

Khalil Zouiten, MD W.Cecile, MD D.Cahen, MD

Martinique

This is a G1P0 patient with unremarkable history. The examination is performed at 11 weeks 3 days demonstrates a distended bladder in close proximity to another cystic mass. There is also a clubbed hand.

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Axial sections. The arrow points to a small hyperechoic structure.

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There is also a clubbed hand:

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The diagnosis of Cloacal dysgenesis sequence (see also 1 and 2 ) is confirmed at autopsy:

  • Fistula between the rectum and the bladder

  • Imperforated anus

  • Club hand

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The genitalia and imperforated anus:

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The demonstration of the distended bladder and rectum and their communication.

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The karyotype was attempted but the cell culture failed.

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