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2009-07-29-11 Case of the week #250 © Julien





Case of the week #250

August 20-September 3, 2009




Emmanuel Julien, MD.


Case report

A 37-year-old woman (G1P0), from a non-consanguineous couple (50 year old husband), with a non-contributive history, was referred to our center at 35 week due to the short fetal femurs. Her first and second trimester scans were normal.

Our ultrasound examination revealed macrocephaly (90th percentile) and micromelia averaging around the 1st percentile (femur 58 mm; tibia 49 mm; humerus 52 mm; and radius 44 mm). The fetal face was flat. The chest looked normal and no other anomaly was found. The amount of amniotic fluid was normal.

An amniocentesis was done and excluded the FGFR3 related anomalies. Fetal X-ray images showed characteristic anomalies indicating our final diagnosis.

Because of the lack of propriate images, the following images represent a mix of two cases representing the same anomaly.

Images 1, 2


Images 3, 4, 5, 6, and 7



Images 8, 9, 10, 11, 12, and 13




Image 11:

Images 12, 13, and 14 



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