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2008-05-06-09 Achondrogenesis, type II (Langer-Saldino type) © Volkov www.thefetus.net/
Achondrogenesis, type II (Langer-Saldino type)

Andrey Volkov, MD, PhD*; Alexander Rymashevsky, MD, PhD**; Lukach A., MD, PhD***.

*    Department of Obstetric and Gynecology. Rostov Medical University, Rostov on Don, Russia.
**   Maternity Hospital 5, Rostov on Don, Russia.
***  Department  of surgery. Rostov Medical University, Rostov on Don, Russia.

 

Case report

A 24-year-old woman (G2P1), with non-contributive family history and negative anamnesis of exposure to teratogens, was referred to our antenatal unit at 18 weeks of pregnancy due to detection of fetal anomalies. Our sonographic examination discovered following anomalies:

• Flat nasal bridge;
• Severe micromelia;
• Normal ossification of the skull, lack of ossification of the spine and pelvic bones;
• Narrow thorax with no fractures of the ribs and protuberant abdomen.

The findings were suggestive of achondrogenesis type II (Langer-Saldino type). An interruption of pregnancy was done at 18 weeks and the diagnosis was confirmed.

Images 1, 2: Image one shows sagittal scan of the fetal head with flat nasal bridge. Image 2 shows abnormally short bones of fetal legs.

 

Images 3, 4: Image 3 shows sagittal scan of the fetal thorax and abdomen. The thorax is narrow and the abdomen markedly protrudes above the level of the thorax. The lumbar spine is poorly ossified. Image 4 shows severe micromelia of fetal upper extremity. Adjacent fetal skull shows relatively good degree of ossification.

 

Images 5, 6: Images 5 represents coronal scan of the protuberant fetal abdomen and narrow thorax. Polyhydramnios was also present. Image 6 shows the appearance of the fetus post abortion and the right part of the image shows a radiogram of the fetus.

 

 

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