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2008-02-20-14 Achondrogenesis, type II © Cuillier www.thefetus.net/
Achondrogenesis, type II  

Fabrice Cuillier, MD*; J. Durandeu, MD**; J. L. Alessandri, MD***.

*

Gynecologist, Hôpital Félix Guyon, 97400  Saint-Denis, Ile de la Réunion, France. Telephone: 0262 90 55 22; fax: 0262 90 77 30;

**

Radiologist, 97400 Saint-Denis, Ile de la Réunion, France;

***

Department of Neonatology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion.

 

Case report

A 25-year-old woman (G3P2), with non-contributive family history and negative anamnesis of exposure to teratogens, was referred to our antenatal unit at 11 weeks of pregnancy due to detection of fetal anomalies. Our sonographic examination discovered following anomalies:

  • Abnormal nuchal translucency and anasarca;

  • Severe micromelia;

  • Ventricular septal defect of the heart;

  • Normal ossification of the skull, lack of ossification of the spine and pelvic bones, and polydactyly;

  • Narrow thorax with no fractures of the ribs;

  • Protuberant abdomen

The findings were suggestive of achondrogenesis type II. An interruption of pregnancy was done at 15 weeks and the diagnosis was confirmed.

Images 1, 2: Images show increased nuchal translucency and enlarged skull with flat nasal bridge of the fetus.

 

Images 3, 4: Images show anasarca of the fetus (Image 3) and severe micromelia (Image 4).

 

Images 5, 6: Images show polydactyly.

 

Images 7, 8: Images show severe micromelia.

  

Images 9, 10: Images show ventricular septal defect of the heart.

 

Image 11: 3D image showing enlarged fetal skull and increased nuchal translucency.

 

Image 12: Post mortem radiogram.

 

Videos 1, 2: Videos show the enlarged skull of the fetus with increased nuchal translucency, anasarca and severe micromelia.

 

 

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