Case of the Week # 113

Alberto Sosa Olavarria, MD

February 20-March 3, 2004

Perinatology Unit, Carabobo University, Valencia - Venezuela

This 30-year-old primigravida  (ORh+) has no particular family or personal history. Her first examination at 16 weeks was reported as normal. Findings obtained during a repeat examination at 20 weeks result in her referral to our unit. The following images were obtained:

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Both an amniocentesis and FISH studies reported a normal 46XY karyotype.

There are 3 anomalies in this fetus. Of course a 2-vessels cord... but what are the other 2 ones ?

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Answer

This 30-year-old primigravida  (ORh+) has no particular family or personal history. Her first examination at 16 weeks was reported as normal. Findings obtained during a repeat examination at 20 weeks result in her referral to our unit. The following images were obtained:

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These images show the striking cystic structure in the penile urethra and slight distension of the bladder. These 2 findings are characteristic of megalourethra.

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...and these of course represented a horseshoe kidney !

Both an amniocentesis and FISH studies reported a normal 46XY karyotype.

So the final diagnosis was Megalourethra with horseshoe kidney  !

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