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Articles » Skeletal » Achondrogenesis
2010-10-28-13 Achondrogenesis, type I © Contarin
Achondrogenesis, type I


Francesco Contarin, MD.*, Rafael Carballido, MD.**

* Clinica Sanatrix. Caracas. Venezuela.
** Clinica Avila. Caracas.Venezuela.

Case report

This is a case of a lethal skeletal dysplasia diagnosed at 14 weeks of gestation. Ultrasound examination showed increased nuchal translucency, severe micromelic shortening of all extremities, short, narrow thorax, protuberant abdomen. The vertebral bodies were not ossified. Calvarium was enlarged with bulging forehead and depressed nasal bridge. Patient decided for the termination of the pregnancy. The final diagnosis based on the ultrasound findings and X-ray images was Achondrogenesis, type I.

Images 1,2: Image 1 shows an axial view of the fetal head. Image 2 shows a parasagittal view, note small thorax and protuberant abdomen.


Images 3,4: Image 3 shows an increased nuchal translucency (image is not taken in the neutral position of the head). Image 4 shows radius and ulna.


Images 5,6: Image 5 show humerus. Image 6 shows femur. Note shortening of all long bones, less than 2nd percentile.

Images 7,8: Images show short, narrow thorax and protuberant abdomen.

Images 9,10
: Fetus after the pregnancy termination, note shortening of upper and lower extremities.

Images 11,12: Profile of the fetus with depressed nasal bridge, bulging forehead and micrognathia.

Images 13,14
: X-ray images of the fetus, note that vertebral bodies are non-ossified and skull is poorly mineralized.

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