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2013-12-22-10 Case of the week #361 © Grochal www.TheFetus.net 

 
Answer to the case of the week #361

January 23, 2014 - February 06, 2014

Frantisek Grochal, MD.

Femicare, Center of prenatal ultrasonographic diagnostics, Martin, Slovak republic. Catholic University in Ruzomberok, Faculty of Health Care, Ruzomberok, Slovak Republic.
 

Case report

A 34-year-old woman (G4P2), with non-contributive history, was sent to our office at 36th week of gestation due to growth retardation of the fetus. Our examination revealed following findings:

- macrocrania with midface hypoplasia and low nasal bridge;
- predominantly rhizomelic shortening of fetal extremities;
- slightly narrowed thorax, with thoraco-abdominal ratio 0.87;
- trident hands;
- narrowing of the lumbar spinal canal.

Diagnosis of achondroplasia was postulated and confirmed after birth.


Images 1, 2, 3, and 4: 36 weeks of gestation; the images show fetal macrocrania, midfacial hypoplasia, low nasal bridge and frontal bossing.

 


 

Images 5, 6, and 7: 36 weeks of gestation; the images demonstrate predominantly rhizomelic shortening of fetal extremities (see fetal biometry in the table on the image 7).

 




Images 8, 9, and video 1: 36 weeks of gestation; the images and video show slightly narrowed thorax, with thoraco-abdominal ratio 0.87, and normal cardiac morphology.


 



Images 10, 11: 36 weeks of gestation; the images show normal thoracic spine with normal width of the spinal canal.

 

Images 12, 13, 14, and videos 2, 3: 36 weeks of gestation; the images and videos demonstrate narrowing of the spinal canal in the lumbar region of the spine caused by thickening of vertebral pedicles of the lumbar region. Although this sign of achondroplasia is not very remarkable in prenatal ultrasound and thus not easily assessed, certain degree of narrowing of the lumbar canal can be observed at the images and videos. 

 
 



 
 
Images 15, 16, 17, 18, 19, and 20: 36 weeks of gestation; 3D images showing fetal face with midfacial hypoplasia, low nasal bridge and frontal bossing. Images 19, 20 show trident hand of the fetus.

 

 

 
 

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