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2009-08-27-10 Answer to the case of the week #256 © Andreeva

Answer to the case of the week #256

November 12, 2009 - November 26, 2009

Natalia Odegova, MD; Elena Andreeva, MD; Alexander Michin, MD; Olga Savchenko, MD; Irina Marculevich, MD.

Medical genetic center of Gomel.


Case report

The following images represent a case of  multiple hereditary exostoses syndrome (multiple osteochondromatosis) diagnosed at 15 weeks of pregnancy. The fetus showed mild micromelia, short and parallel ribs, hypo-ossification of the spine and multiple bony exostoses. The pregnancy was interrupted and the diagnosis was confirmed by the pathologist.

The anomaly is characterized by multiple bony projections covered by cartilage, predominantly involving the metaphyses of long bones, but also occurring on the diaphyses of long bones. Other bones (vertebrae, ribs or flat bones) can also be affected, but the skull is usually not involved.

Images 1, 2: 15 weeks of pregnancy; the image 1 represents a sagittal scan of the fetus (CRL corresponded to 15+0 weeks of pregnancy); the image 2 shows a transverse scan of the fetal upper abdomen. Short, irregular, dotted ribs (caused by multiple bony exostoses) can be seen.


Images 3, 4: 15 weeks of pregnancy; the images show mild shortening of the humerus (Image 3) and femur (Image 4) of the fetus. The surface of the bones is irregular.


Video 1: 15 weeks of pregnancy; the video shows a bony projection of the fetal tibia irregular surface of the fetal knee caused by multiple bony projections.

Images 5, 6, 7, 8, and 9: 15 weeks of pregnancy; the images shows a series of 3D images of the fetus. Note the irregular surface of the limbs caused by multiple bony projections (images 5, 6, 7, and 8). The surface of the ribs is also irregular due to the multiple bony projections (Image 9).



Image 10: Aborted fetus with multiple bony projections making the surface of the limbs irregular with several spurs.



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