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2005-04-27-10 Answer to Case of the week #146 © Quiroga www.TheFetus.net
Answer to Case of the week #146

June 30 - July 14, 2005

Hector Quiroga, MD

Hospital Central Universitario “Antonio María Pineda”. Barquisimeto. Estado Lara. Venezuela

This is the scan of a 26-year-old woman G5, P4. She had earlier ultrasound scans at 6 and 10 weeks that were reported as normal. The following findings were noted: absent nasal bones, micrognathia, hypertelorism, and absent lower and upper limbs. 

 

The other findings that were noted and not included in the images above include dysplastic ears and a large penis. Further evaluation could not be carried out especially of the heart due to patient refusal. A diagnosis of Robert"s syndrome was suggested.  

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