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2013-10-12-09 Case of the week #357 © Julien www.TheFetus.net 

 
Answer to the case of the week #357

November 07, 2013 - November 21, 2013

 

Emmanuel Julien, MD.

Centre hospitalier Le Mans, France.


Case report

A 40-year-old pregnant woman (G3P2) from a non-consanguineous couple was sent to our center at 12 and 22 weeks. During the first examination, an abnormal nuchal translucency (7 mm) was observed. Amniocentesis found a normal karyotype (46XX). Following examination at 22 weeks revealed:

- intrauterine growth retardation;
- bowed femurs;
- hypoplastic scapulae;
- retrognathia;
- small thorax;
- perimembranous ventricular septal defect;
- bilateral club feet.

Campomelic dysplasia was suspected and the pregnancy was terminated at 24 weeks. The diagnosis of campomelic dysplasia was confirmed by geneticist.

Image 1: 12 weeks of gestation; abnormal nuchal translucency (7 mm).



Images 2, 3, 4, 5, and 6: 22 weeks of gestation; the images show fetal head with retrognathia (micrognathia), relative macrocrania (when compared with other parts of the body), flat fetal profile, slightly prominent eyes (image 3).

 


 



Images 7, 8: 22 weeks of gestation; the images demonstrate small fetal thorax.

 

Images 9, 10, 11: 22 weeks of gestation; the images show small fetal thorax - only 11 pairs of ribs is present (image 11).

 

 


Images 12, 13, 14, and video 1: 22 weeks of gestation; the images and video demonstrate hypoplastic scapulae of the fetus.

 

 


Image 15 and video 2: 22 weeks of gestation; the image and video demonstrate small perimembranous ventricular septal defect.

 

Images 16, 17, 18: 22 weeks of gestation; the images show upper extremity of the fetus with slightly bowed humerus and shortened bones.

 



Images 19, 20, 21, 22, 23: 22 weeks of gestation; the images show lower extremity of the fetus with markedly bowed femurs and shortening of bones. Image 23 shows club foot of the fetus.

 

 


 

Images 24: 22 weeks of gestation; the image shows fetal abdomen and its biometry.



Images 25, 26: Postabortal X-ray and photo of the fetus with campomelic dysplasia.

 

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