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2010-03-03-16 Case the week #263 © Julien


Case of the week #263

March 4, 2010 - March 18, 2010.

Emmanuel Julien, MD., Philippe Juhel, MD. 

Centre hospitalier Le Mans, France. 


Case report

The following images represent a rare skeletal dysplasia. A 23-year-old healthy G1P0 was referred to our hospital for the ultrasound scan at 22 weeks of her pregnancy. There was no contributive personal or family history.
The first trimester scan and biochemistry were normal. The ultrasound findings included marked shortening of all long bones, less than 1st percentile. Patient opted for pregnancy termination and our diagnosis was confirmed by the pathologist.


Images 1-8: Ultrasound scan at 23 weeks.










Images 9-12: Ultrasound scan at 23 weeks, long bones measure less than 1st percentile.





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