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2010-09-24-12 Answer to the case of the week #288 © Andreeva
Answer to the case of the week #288

March 3, 2010 - March 17, 2010.

Moscow regions Research Institute of Obstetrics and Gynecology, Medical-Genetics Department, Moscow, Russia.

Case report

This is a case of a 26-year-old patient, G1P0, who was referred for ultrasound examination at 13 weeks of gestation.
The examination revealed following findings:

  • Hypomineralization of the limbs
  • Micrognathia
  • Increased NT, NT=4.8 mm
  • Scoliosis in the cervical region of the spine
  • Proximally displaced and abducted "Hitchhiker" thumbs
  • Clubfoot
  • Circumvallate placenta
Chorionic villus sampling showed normal karyotype, 46 XX. Our diagnosis according to the ultrasound findings was diastrophic dysplasia. Patients decided for the pregnancy termination. Pathology examination confirmed our diagnosis.

Images 1,2: Images show sagittal view of the fetus, note micrognathia and cervical scoliosis.


Images 3,4: Image 3 shows increased nuchal translucency (NT=4.8 mm). Image 4 shows cervical spine scoliosis and micrognathia, arrow points at nasal bone.


Images 5,6: Image 5 shows cervical spine. Image 6 shows abducted, "hitchhiker" thumb.

Images 7,8: 3D-images of the hands, note the position of the thumbs.

Images 9,10: Images show lower extremities.

Images 11: Circumvallate placenta.

Videos 1,2: Video 1 shows the clubfoot. Video 2 shows the "hitchhiker" thumb.

Video 3: Video shows sagittal view of the fetus, note cervical scoliosis.

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